Genetic disorder: Difference between revisions

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{{SI}}
{{Infobox medical condition
| name            = Genetic disorder
| image          = [[File:Human_chromosome_diseases_set_en.svg|250px]]
| caption        = Diagram showing various [[chromosome]] abnormalities
| field          = [[Medical genetics]]
| symptoms        = Varies widely depending on the specific disorder
| complications  = [[Developmental delay]], [[intellectual disability]], [[physical disability]], [[chronic illness]]
| onset          = [[Congenital disorder|Congenital]] or later in life
| duration        = Lifelong
| causes          = [[Genetic mutation]], [[chromosomal abnormality]]
| risks          = [[Family history]], [[consanguinity]], [[advanced parental age]]
| diagnosis      = [[Genetic testing]], [[prenatal screening]], [[newborn screening]]
| differential    = [[Acquired disorder]]
| prevention      = [[Genetic counseling]], [[preimplantation genetic diagnosis]]
| treatment      = [[Symptomatic treatment]], [[gene therapy]], [[enzyme replacement therapy]]
| prognosis      = Varies widely
| frequency      = Varies by specific disorder
}}
[[File:Autosomal_recessive_inheritance_for_affected_enzyme.png|Autosomal Recessive Inheritance for Affected Enzyme|thumb|left]]
[[File:Human_karyotype_with_bands_and_sub-bands.png|Human Karyotype with Bands and Sub-bands|thumb]]
[[File:Down_Syndrome_Karyotype.png|Down Syndrome Karyotype|thumb|left]]
[[File:Personal_genomics_gene_therapy_flowchart.png|Personal Genomics Gene Therapy Flowchart|thumb]]
A genetic disorder refers to a condition that is caused in part or in whole by changes, or mutations, in the DNA sequence of a specific gene or set of genes. These genetic changes can be inherited from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and function of the body, and abnormalities can result in a wide range of health problems.
A genetic disorder refers to a condition that is caused in part or in whole by changes, or mutations, in the DNA sequence of a specific gene or set of genes. These genetic changes can be inherited from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and function of the body, and abnormalities can result in a wide range of health problems.
== Types of Genetic Disorders ==
== Types of Genetic Disorders ==
Genetic disorders are classified into four primary categories based on the way they are inherited:
Genetic disorders are classified into four primary categories based on the way they are inherited:
* [[Single-gene disorders]]: These are caused by mutations in a single gene. Examples include [[sickle cell disease]], [[cystic fibrosis]], and [[Huntington's disease]].
* [[Single-gene disorders]]: These are caused by mutations in a single gene. Examples include [[sickle cell disease]], [[cystic fibrosis]], and [[Huntington's disease]].
* [[Chromosomal disorders]]: These occur when chromosomes, or parts of chromosomes, are missing or changed. Examples include [[Down syndrome]], [[Turner syndrome]], and [[Klinefelter syndrome]].
* [[Chromosomal disorders]]: These occur when chromosomes, or parts of chromosomes, are missing or changed. Examples include [[Down syndrome]], [[Turner syndrome]], and [[Klinefelter syndrome]].
* [[Multifactorial disorders]]: These disorders are caused by a combination of genetic and environmental factors. Examples include [[heart disease]], [[diabetes]], and [[cancer]].
* [[Multifactorial disorders]]: These disorders are caused by a combination of genetic and environmental factors. Examples include [[heart disease]], [[diabetes]], and [[cancer]].
* [[Mitochondrial disorders]]: These rare disorders are caused by mutations in the non-chromosomal DNA of mitochondria. Examples include [[Leber's hereditary optic neuropathy]] (LHON) and [[mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes]] (MELAS).
* [[Mitochondrial disorders]]: These rare disorders are caused by mutations in the non-chromosomal DNA of mitochondria. Examples include [[Leber's hereditary optic neuropathy]] (LHON) and [[mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes]] (MELAS).
== Diagnosis and Treatment ==
== Diagnosis and Treatment ==
Genetic disorders can be diagnosed through genetic testing, which includes methods such as gene sequencing and chromosomal analysis. Prenatal testing is available for some genetic disorders to identify risks in unborn children.
Genetic disorders can be diagnosed through genetic testing, which includes methods such as gene sequencing and chromosomal analysis. Prenatal testing is available for some genetic disorders to identify risks in unborn children.
Treatment varies widely depending on the specific disorder and its severity. Some genetic disorders can be managed with medication or dietary modification, while others may require surgery or physical therapy. Genetic counselling is often recommended for families affected by genetic disorders to understand the risk of recurrence in future pregnancies.
Treatment varies widely depending on the specific disorder and its severity. Some genetic disorders can be managed with medication or dietary modification, while others may require surgery or physical therapy. Genetic counselling is often recommended for families affected by genetic disorders to understand the risk of recurrence in future pregnancies.
== Future Perspectives ==
== Future Perspectives ==
Advancements in the field of genetics and genomics, including gene therapy and CRISPR gene-editing technologies, offer potential for future treatments and possibly cures for some genetic disorders.
Advancements in the field of genetics and genomics, including gene therapy and CRISPR gene-editing technologies, offer potential for future treatments and possibly cures for some genetic disorders.
== List of genetic diseases ==
== List of genetic diseases ==
{{div col|colwidth=25em}}
{{div col|colwidth=25em}}
* [[17β-Hydroxysteroid dehydrogenase III deficiency]]
* [[17β-Hydroxysteroid dehydrogenase III deficiency]]
* [[2-Hydroxyglutaric aciduria]]
* [[2-Hydroxyglutaric aciduria]]
* [[2-Methylbutyryl-CoA dehydrogenase deficiency]]
* [[2-Methylbutyryl-CoA dehydrogenase deficiency]]
* [[3-Methylcrotonyl-CoA carboxylase deficiency]]
* [[3-Methylcrotonyl-CoA carboxylase deficiency]]
* [[3C syndrome]]
* [[3C syndrome]]
* [[6-Pyruvoyltetrahydropterin synthase deficiency]]
* [[6-Pyruvoyltetrahydropterin synthase deficiency]]
* [[ALG1-CDG]]
* [[ALG1-CDG]]
* [[ALOX12B]]
* [[ALOX12B]]
* [[Abdallat–Davis–Farrage syndrome]]
* [[Abdallat–Davis–Farrage syndrome]]
* [[Abderhalden–Kaufmann–Lignac syndrome]]
* [[Abderhalden–Kaufmann–Lignac syndrome]]
* [[Abetalipoproteinemia]]
* [[Abetalipoproteinemia]]
* [[Ablepharon macrostomia syndrome]]
* [[Ablepharon macrostomia syndrome]]
* [[Acatalasia]]
* [[Acatalasia]]
* [[Aceruloplasminemia]]
* [[Aceruloplasminemia]]
* [[Acheiropodia]]
* [[Acheiropodia]]
* [[Acrocallosal syndrome]]
* [[Acrocallosal syndrome]]
* [[Acrodermatitis enteropathica]]
* [[Acrodermatitis enteropathica]]
* [[Acropectoral syndrome]]
* [[Acropectoral syndrome]]
* [[Acute fatty liver of pregnancy]]
* [[Acute fatty liver of pregnancy]]
* [[Acute intermittent porphyria]]
* [[Acute intermittent porphyria]]
* [[Acyl-CoA oxidase deficiency]]
* [[Acyl-CoA oxidase deficiency]]
* [[Adducted thumb syndrome]]
* [[Adducted thumb syndrome]]
* [[Adenine phosphoribosyltransferase deficiency]]
* [[Adenine phosphoribosyltransferase deficiency]]
* [[Adenosine deaminase 2 deficiency]]
* [[Adenosine deaminase 2 deficiency]]
* [[Adenosine deaminase deficiency]]
* [[Adenosine deaminase deficiency]]
* [[Adenylosuccinate lyase deficiency]]
* [[Adenylosuccinate lyase deficiency]]
* [[Adermatoglyphia]]
* [[Adermatoglyphia]]
* [[Adrenoleukodystrophy]]
* [[Adrenoleukodystrophy]]
* [[Aicardi syndrome]]
* [[Aicardi syndrome]]
* [[Al-Raqad syndrome]]
* [[Al-Raqad syndrome]]
* [[Albinism in humans]]
* [[Albinism in humans]]
* [[Albright's hereditary osteodystrophy]]
* [[Albright's hereditary osteodystrophy]]
* [[Aldolase A deficiency]]
* [[Aldolase A deficiency]]
* [[Aldred syndrome]]
* [[Aldred syndrome]]
* [[Alkaptonuria]]
* [[Alkaptonuria]]
* [[Alpha-aminoadipic and alpha-ketoadipic aciduria]]
* [[Alpha-aminoadipic and alpha-ketoadipic aciduria]]
* [[Alpha-mannosidosis]]
* [[Alpha-mannosidosis]]
* [[Alwadei Syndrome]]
* [[Alwadei Syndrome]]
* [[Aminoacylase 1 deficiency]]
* [[Aminoacylase 1 deficiency]]
* [[Aminolevulinic acid dehydratase deficiency porphyria]]
* [[Aminolevulinic acid dehydratase deficiency porphyria]]
* [[Antley–Bixler syndrome]]
* [[Antley–Bixler syndrome]]
* [[Apparent mineralocorticoid excess syndrome]]
* [[Apparent mineralocorticoid excess syndrome]]
* [[Arakawa's syndrome II]]
* [[Arakawa's syndrome II]]
* [[Arginine:glycine amidinotransferase deficiency]]
* [[Arginine:glycine amidinotransferase deficiency]]
* [[Argininemia]]
* [[Argininemia]]
* [[Argininosuccinic aciduria]]
* [[Argininosuccinic aciduria]]
* [[Aromatase excess syndrome]]
* [[Aromatase excess syndrome]]
* [[Arterial calcification due to CD73 deficiency]]
* [[Arterial calcification due to CD73 deficiency]]
* [[Arterial tortuosity syndrome]]
* [[Arterial tortuosity syndrome]]
* [[Aspartylglucosaminuria]]
* [[Aspartylglucosaminuria]]
* [[Atelosteogenesis, type II]]
* [[Atelosteogenesis, type II]]
* [[Atransferrinemia]]
* [[Atransferrinemia]]
* [[Autosomal dominant cerebellar ataxia]]
* [[Autosomal dominant cerebellar ataxia]]
* [[Autosomal recessive multiple epiphyseal dysplasia]]
* [[Autosomal recessive multiple epiphyseal dysplasia]]
* [[Axenfeld–Rieger syndrome]]
* [[Axenfeld–Rieger syndrome]]
* [[Bainbridge-Ropers Syndrome]]
* [[Bainbridge-Ropers Syndrome]]
* [[Baller–Gerold syndrome]]
* [[Baller–Gerold syndrome]]
* [[Barber–Say syndrome]]
* [[Barber–Say syndrome]]
* [[Bare lymphocyte syndrome]]
* [[Bare lymphocyte syndrome]]
* [[Bare lymphocyte syndrome type II]]
* [[Bare lymphocyte syndrome type II]]
* [[Batten disease]]
* [[Batten disease]]
* [[Bazex–Dupré–Christol syndrome]]
* [[Bazex–Dupré–Christol syndrome]]
* [[Becker muscular dystrophy]]
* [[Becker muscular dystrophy]]
* [[Behr syndrome]]
* [[Behr syndrome]]
* [[Benign hereditary chorea]]
* [[Benign hereditary chorea]]
* [[Berdon syndrome]]
* [[Berdon syndrome]]
 
* [[ Bernard–Soulier syndrome]]
* [[Bernard–Soulier syndrome]]
 
* [[Beta-ketothiolase deficiency]]
* [[Beta-ketothiolase deficiency]]
* [[Beta-mannosidosis]]
* [[Beta-mannosidosis]]
* [[Bethlem myopathy]]
* [[Bethlem myopathy]]
* [[Bietti's crystalline dystrophy]]
* [[Bietti's crystalline dystrophy]]
* [[Biotinidase deficiency]]
* [[Biotinidase deficiency]]
* [[Birt–Hogg–Dubé syndrome]]
* [[Birt–Hogg–Dubé syndrome]]
* [[Bloom syndrome]]
* [[Bloom syndrome]]
* [[Blue diaper syndrome]]
* [[Blue diaper syndrome]]
* [[Boomerang dysplasia]]
* [[Boomerang dysplasia]]
* [[Bosch-Boonstra-Schaaf optic atrophy syndrome]]
* [[Bosch-Boonstra-Schaaf optic atrophy syndrome]]
* [[Branchio-oto-renal syndrome]]
* [[Branchio-oto-renal syndrome]]
* [[Buschke–Ollendorff syndrome]]
* [[Buschke–Ollendorff syndrome]]
* [[CAMFAK syndrome]]
* [[CAMFAK syndrome]]
* [[CANDLE syndrome]]
* [[CANDLE syndrome]]
* [[CHILD syndrome]]
* [[CHILD syndrome]]
* [[Calpainopathy]]
* [[Calpainopathy]]
* [[Camurati–Engelmann disease]]
* [[Camurati–Engelmann disease]]
* [[Canavan disease]]
* [[Canavan disease]]
* [[Carbamoyl phosphate synthetase I deficiency]]
* [[Carbamoyl phosphate synthetase I deficiency]]
* [[Carey Fineman Ziter syndrome]]
* [[Carey Fineman Ziter syndrome]]
* [[Carnitine palmitoyltransferase I deficiency]]
* [[Carnitine palmitoyltransferase I deficiency]]
* [[Carnitine palmitoyltransferase II deficiency]]
* [[Carnitine palmitoyltransferase II deficiency]]
* [[Carnitine-acylcarnitine translocase deficiency]]
* [[Carnitine-acylcarnitine translocase deficiency]]
* [[Carnosinemia]]
* [[Carnosinemia]]
* [[Carpenter syndrome]]
* [[Carpenter syndrome]]
* [[Cartilage–hair hypoplasia]]
* [[Cartilage–hair hypoplasia]]
* [[Caspase-8 deficiency]]
* [[Caspase-8 deficiency]]
* [[Cenani–Lenz syndactylism]]
* [[Cenani–Lenz syndactylism]]
* [[Central core disease]]
* [[Central core disease]]
* [[Cerebrotendineous xanthomatosis]]
* [[Cerebrotendineous xanthomatosis]]
* [[Chondrodystrophy]]
* [[Chondrodystrophy]]
* [[Chorea acanthocytosis]]
* [[Chorea acanthocytosis]]
* [[Chronic progressive external ophthalmoplegia]]
* [[Chronic progressive external ophthalmoplegia]]
* [[Chronic progressive external ophthalmoplegia]]
* [[Chronic progressive external ophthalmoplegia]]
* [[Chédiak–Higashi syndrome]]
* [[Chédiak–Higashi syndrome]]
* [[Citrullinemia]]
* [[Citrullinemia]]
* [[Cockayne syndrome]]
* [[Cockayne syndrome]]
* [[Coenzyme Q10 deficiency]]
* [[Coenzyme Q10 deficiency]]
* [[Cohen-Gibson syndrome]]
* [[Cohen-Gibson syndrome]]
* [[Collagen disease]]
* [[Collagen disease]]
* [[Collagenopathy, types II and XI]]
* [[Collagenopathy, types II and XI]]
* [[Color blindness]]
* [[Color blindness]]
* [[Compound heterozygosity]]
* [[Compound heterozygosity]]
* [[Congenital adrenal hyperplasia]]
* [[Congenital adrenal hyperplasia]]
* [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]]
* [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]]
* [[Congenital disorder of glycosylation type IIc]]
* [[Congenital disorder of glycosylation type IIc]]
* [[Congenital distal spinal muscular atrophy]]
* [[Congenital distal spinal muscular atrophy]]
* [[Congenital hepatic fibrosis]]
* [[Congenital hepatic fibrosis]]
* [[Congenital hypofibrinogenemia]]
* [[Congenital hypofibrinogenemia]]
* [[Congenital ichthyosiform erythroderma]]
* [[Congenital ichthyosiform erythroderma]]
* [[Congenital insensitivity to pain with anhidrosis]]
* [[Congenital insensitivity to pain with anhidrosis]]
* [[Congenital stromal corneal dystrophy]]
* [[Congenital stromal corneal dystrophy]]
* [[Corneal-cerebellar syndrome]]
* [[Corneal-cerebellar syndrome]]
* [[Costello syndrome]]
* [[Costello syndrome]]
* [[Cranio-lenticulo-sutural dysplasia]]
* [[Cranio-lenticulo-sutural dysplasia]]
* [[Craniodiaphyseal dysplasia]]
* [[Craniodiaphyseal dysplasia]]
* [[Craniofrontonasal dysplasia]]
* [[Craniofrontonasal dysplasia]]
* [[Creatine transporter defect]]
* [[Creatine transporter defect]]
* [[Currarino syndrome]]
* [[Currarino syndrome]]
* [[Cystathioninuria]]
* [[Cystathioninuria]]
* [[Cystic fibrosis]]
* [[Cystic fibrosis]]
* [[Cystinosis]]
* [[Cystinosis]]
* [[Cystinuria]]
* [[Cystinuria]]
* [[D-glycerate dehydrogenase deficiency]]
* [[D-glycerate dehydrogenase deficiency]]
* [[DOOR syndrome]]
* [[DOOR syndrome]]
* [[Darier's disease]]
* [[Darier's disease]]
* [[De Barsy syndrome]]
* [[De Barsy syndrome]]
* [[Dentatorubral–pallidoluysian atrophy]]
* [[Dentatorubral–pallidoluysian atrophy]]
* [[Dermatopathia pigmentosa reticularis]]
* [[Dermatopathia pigmentosa reticularis]]
* [[DiGeorge syndrome]]
* [[DiGeorge syndrome]]
* [[Diabetes and deafness]]
* [[Diabetes and deafness]]
* [[Diastrophic dysplasia]]
* [[Diastrophic dysplasia]]
* [[Dicarboxylic aminoaciduria]]
* [[Dicarboxylic aminoaciduria]]
* [[Dihydropyrimidine dehydrogenase deficiency]]
* [[Dihydropyrimidine dehydrogenase deficiency]]
* [[Distal spinal muscular atrophy type 1]]
* [[Distal spinal muscular atrophy type 1]]
* [[Dominance (genetics)]]
* [[Dominance (genetics)]]
* [[Donohue syndrome]]
* [[Donohue syndrome]]
* [[Dopamine beta hydroxylase deficiency]]
* [[Dopamine beta hydroxylase deficiency]]
* [[Dubin–Johnson syndrome]]
* [[Dubin–Johnson syndrome]]
* [[Dubowitz syndrome]]
* [[Dubowitz syndrome]]
* [[Duchenne muscular dystrophy]]
* [[Duchenne muscular dystrophy]]
* [[Dysfibrinogenemia]]
* [[Dysfibrinogenemia]]
* [[EAST syndrome]]
* [[EAST syndrome]]
* [[EEM syndrome]]
* [[EEM syndrome]]
* [[Ellis–van Creveld syndrome]]
* [[Ellis–van Creveld syndrome]]
* [[Emberger syndrome]]
* [[Emberger syndrome]]
* [[Enamel-renal syndrome]]
* [[Enamel-renal syndrome]]
* [[Endocardial fibroelastosis]]
* [[Endocardial fibroelastosis]]
* [[Endocardial fibroelastosis]]
* [[Endocardial fibroelastosis]]
* [[Essential fructosuria]]
* [[Essential fructosuria]]
* [[Ethylmalonic encephalopathy]]
* [[Ethylmalonic encephalopathy]]
* [[FG syndrome]]
* [[FG syndrome]]
* [[FG syndrome]]
* [[FG syndrome]]
* [[Fabry disease]]
* [[Fabry disease]]
* [[Familial Mediterranean fever]]
* [[Familial Mediterranean fever]]
* [[Familial amyloid polyneuropathy]]
* [[Familial amyloid polyneuropathy]]
* [[Familial atrial fibrillation]]
* [[Familial atrial fibrillation]]
* [[Familial dysautonomia]]
* [[Familial dysautonomia]]
* [[Familial hypercholesterolemia]]
* [[Familial hypercholesterolemia]]
* [[Familial isolated vitamin E deficiency]]
* [[Familial isolated vitamin E deficiency]]
* [[Familial male-limited precocious puberty]]
* [[Familial male-limited precocious puberty]]
* [[Fanconi anemia]]
* [[Fanconi anemia]]
* [[Farber disease]]
* [[Farber disease]]
* [[Fatty-acid metabolism disorder]]
* [[Fatty-acid metabolism disorder]]
* [[Feingold syndrome]]
* [[Feingold syndrome]]
* [[Felty's syndrome]]
* [[Felty's syndrome]]
* [[Fibrochondrogenesis]]
* [[Fibrochondrogenesis]]
* [[Finnish heritage disease]]
* [[Finnish heritage disease]]
* [[Flynn–Aird syndrome]]
* [[Flynn–Aird syndrome]]
* [[Focal dermal hypoplasia]]
* [[Focal dermal hypoplasia]]
* [[Follicle-stimulating hormone insensitivity]]
* [[Follicle-stimulating hormone insensitivity]]
* [[Fountain syndrome]]
* [[Fountain syndrome]]
* [[Fragile X syndrome]]
* [[Fragile X syndrome]]
* [[Fraser syndrome]]
* [[Fraser syndrome]]
* [[Friedreich's ataxia]]
* [[Friedreich's ataxia]]
* [[Friedreich's ataxia]]
* [[Friedreich's ataxia]]
* [[Fucosidosis]]
* [[Fucosidosis]]
* [[Fumarase deficiency]]
* [[Fumarase deficiency]]
* [[GAPO syndrome]]
* [[GAPO syndrome]]
* [[GATA2 deficiency]]
* [[GATA2 deficiency]]
* [[GFER Syndrome]]
* [[GFER Syndrome]]
* [[GLUT1 deficiency]]
* [[GLUT1 deficiency]]
* [[GM1 gangliosidoses]]
* [[GM1 gangliosidoses]]
* [[GM2 gangliosidoses]]
* [[GM2 gangliosidoses]]
* [[GM2-gangliosidosis, AB variant]]
* [[GM2-gangliosidosis, AB variant]]
* [[Galactokinase deficiency]]
* [[Galactokinase deficiency]]
* [[Galactose epimerase deficiency]]
* [[Galactose epimerase deficiency]]
* [[Galactose-1-phosphate uridylyltransferase deficiency]]
* [[Galactose-1-phosphate uridylyltransferase deficiency]]
* [[Galactosialidosis]]
* [[Galactosialidosis]]
* [[Galloway Mowat syndrome]]
* [[Galloway Mowat syndrome]]
* [[Gangliosidosis]]
* [[Gangliosidosis]]
* [[Gardner's syndrome]]
* [[Gardner's syndrome]]
* [[Gastroschisis]]
* [[Gastroschisis]]
* [[Gaucher's disease]]
* [[Gaucher's disease]]
* [[Generalized arterial calcification of infancy]]
* [[Generalized arterial calcification of infancy]]
* [[Gerodermia osteodysplastica]]
* [[Gerodermia osteodysplastica]]
* [[Giant axonal neuropathy]]
* [[Giant axonal neuropathy]]
* [[Gillespie syndrome]]
* [[Gillespie syndrome]]
* [[Gillespie syndrome]]
* [[Gillespie syndrome]]
* [[Gitelman syndrome]]
* [[Gitelman syndrome]]
* [[Glanzmann's thrombasthenia]]
* [[Glanzmann's thrombasthenia]]
* [[Glucose-galactose malabsorption]]
* [[Glucose-galactose malabsorption]]
* [[Glutaric acidemia type 2]]
* [[Glutaric acidemia type 2]]
* [[Glutaric aciduria type 1]]
* [[Glutaric aciduria type 1]]
* [[Glutathione synthetase deficiency]]
* [[Glutathione synthetase deficiency]]
* [[Glycine encephalopathy]]
* [[Glycine encephalopathy]]
* [[Glycogen storage disease type I]]
* [[Glycogen storage disease type I]]
* [[Glycogen storage disease type II]]
* [[Glycogen storage disease type II]]
* [[Glycogen storage disease type III]]
* [[Glycogen storage disease type III]]
* [[Glycogen storage disease type V]]
* [[Glycogen storage disease type V]]
* [[Gonadotropin-releasing hormone insensitivity]]
* [[Gonadotropin-releasing hormone insensitivity]]
* [[Gray platelet syndrome]]
* [[Gray platelet syndrome]]
* [[Greig cephalopolysyndactyly syndrome]]
* [[Greig cephalopolysyndactyly syndrome]]
* [[Griscelli syndrome]]
* [[Griscelli syndrome]]
* [[Guanidinoacetate methyltransferase deficiency]]
* [[Guanidinoacetate methyltransferase deficiency]]
* [[Gunther disease]]
* [[Gunther disease]]
* [[H syndrome]]
* [[H syndrome]]
* [[HUPRA syndrome]]
* [[HUPRA syndrome]]
* [[Haemophilia]]
* [[Haemophilia]]
* [[Haemophilia A]]
* [[Haemophilia A]]
* [[Haemophilia B]]
* [[Haemophilia B]]
* [[Hagemoser–Weinstein–Bresnick syndrome]]
* [[Hagemoser–Weinstein–Bresnick syndrome]]
* [[Hajdu–Cheney syndrome]]
* [[Hajdu–Cheney syndrome]]
* [[Haploinsufficiency of A20]]
* [[Haploinsufficiency of A20]]
* [[Harding ataxia]]
* [[Harding ataxia]]
* [[Harlequin-type ichthyosis]]
* [[Harlequin-type ichthyosis]]
* [[Hartnup disease]]
* [[Hartnup disease]]
* [[Hawkinsinuria]]
* [[Hawkinsinuria]]
* [[Hay–Wells syndrome]]
* [[Hay–Wells syndrome]]
* [[Heimler syndrome]]
* [[Heimler syndrome]]
* [[Helsmoortel-Van der Aa syndrome]]
* [[Helsmoortel-Van der Aa syndrome]]
* [[Hemophagocytic lymphohistiocytosis]]
* [[Hemophagocytic lymphohistiocytosis]]
* [[Hereditary elliptocytosis]]
* [[Hereditary elliptocytosis]]
* [[Hereditary folate malabsorption]]
* [[Hereditary folate malabsorption]]
* [[Hereditary hemorrhagic telangiectasia]]
* [[Hereditary hemorrhagic telangiectasia]]
* [[Hereditary mucoepithelial dysplasia]]
* [[Hereditary mucoepithelial dysplasia]]
* [[Hereditary pyropoikilocytosis]]
* [[Hereditary pyropoikilocytosis]]
* [[Hereditary spherocytosis]]
* [[Hereditary spherocytosis]]
* [[Hermansky–Pudlak syndrome]]
* [[Hermansky–Pudlak syndrome]]
* [[Histidinemia]]
* [[Histidinemia]]
* [[Holocarboxylase synthetase deficiency]]
* [[Holocarboxylase synthetase deficiency]]
* [[Holt–Oram syndrome]]
* [[Holt–Oram syndrome]]
* [[Homocystinuria]]
* [[Homocystinuria]]
* [[Hoyeraal-Hreidarsson syndrome]]
* [[Hoyeraal-Hreidarsson syndrome]]
* [[Huntington's disease]]
* [[Huntington's disease]]
* [[Huntington's disease-like syndrome]]
* [[Huntington's disease-like syndrome]]
* [[Hurler syndrome]]
* [[Hurler syndrome]]
* [[Hyperinsulinism-hyperammonemia syndrome]]
* [[Hyperinsulinism-hyperammonemia syndrome]]
* [[Hyperlysinemia]]
* [[Hyperlysinemia]]
* [[Hypermethioninemia]]
* [[Hypermethioninemia]]
* [[Hyperprolinemia]]
* [[Hyperprolinemia]]
* [[Hypertrophic cardiomyopathy]]
* [[Hypertrophic cardiomyopathy]]
* [[Hypertryptophanemia]]
* [[Hypertryptophanemia]]
* [[Hypervalinemia]]
* [[Hypervalinemia]]
* [[Hypoalphalipoproteinemia]]
* [[Hypoalphalipoproteinemia]]
* [[Hypochondroplasia]]
* [[Hypochondroplasia]]
* [[Hypodysfibrinogenemia]]
* [[Hypodysfibrinogenemia]]
* [[Hypomagnesemia with secondary hypocalcemia]]
* [[Hypomagnesemia with secondary hypocalcemia]]
* [[Hypotransferrinemia]]
* [[Hypotransferrinemia]]
 
* [[Imerslund–Gr√§sbeck syndrome]]
* [[Imerslund–Gräsbeck syndrome]]
 
* [[Iminoglycinuria]]
* [[Iminoglycinuria]]
* [[Immunodeficiency–centromeric instability–facial anomalies syndrome]]
* [[Immunodeficiency–centromeric instability–facial anomalies syndrome]]
* [[Impossible syndrome]]
* [[Impossible syndrome]]
* [[Incontinentia pigmenti]]
* [[Incontinentia pigmenti]]
* [[Infantile Refsum disease]]
* [[Infantile Refsum disease]]
* [[Infantile free sialic acid storage disease]]
* [[Infantile free sialic acid storage disease]]
* [[Infantile neuroaxonal dystrophy]]
* [[Infantile neuroaxonal dystrophy]]
* [[Infantile systemic hyalinosis]]
* [[Infantile systemic hyalinosis]]
* [[Isobutyryl-coenzyme A dehydrogenase deficiency]]
* [[Isobutyryl-coenzyme A dehydrogenase deficiency]]
* [[Isolated 17,20-lyase deficiency]]
* [[Isolated 17,20-lyase deficiency]]
* [[Isovaleric acidemia]]
* [[Isovaleric acidemia]]
* [[Jackson–Weiss syndrome]]
* [[Jackson–Weiss syndrome]]
* [[Jalili syndrome]]
* [[Jalili syndrome]]
* [[Jansky–Bielschowsky disease]]
* [[Jansky–Bielschowsky disease]]
* [[Jervell and Lange-Nielsen syndrome]]
* [[Jervell and Lange-Nielsen syndrome]]
* [[Johanson–Blizzard syndrome]]
* [[Johanson–Blizzard syndrome]]
* [[Juberg-Hayward syndrome]]
* [[Juberg-Hayward syndrome]]
* [[Juberg-Hayward syndrome]]
* [[Juberg-Hayward syndrome]]
* [[Juvenile primary lateral sclerosis]]
* [[Juvenile primary lateral sclerosis]]
* [[Kapur–Toriello syndrome]]
* [[Kapur–Toriello syndrome]]
* [[Kaufman oculocerebrofacial syndrome]]
* [[Kaufman oculocerebrofacial syndrome]]
* [[Kearns–Sayre syndrome]]
* [[Kearns–Sayre syndrome]]
* [[Keratoendotheliitis fugax hereditaria]]
* [[Keratoendotheliitis fugax hereditaria]]
* [[Keratolytic winter erythema]]
* [[Keratolytic winter erythema]]
* [[Keutel syndrome]]
* [[Keutel syndrome]]
* [[Kindler syndrome]]
* [[Kindler syndrome]]
* [[Kniest dysplasia]]
* [[Kniest dysplasia]]
* [[Kohlschütter-Tönz syndrome]]
* [[Kohlschütter-Tönz syndrome]]
* [[Krabbe disease]]
* [[Krabbe disease]]
* [[Kufor–Rakeb syndrome]]
* [[Kufor–Rakeb syndrome]]
* [[L1 syndrome]]
* [[L1 syndrome]]
* [[LPS-responsive beige-like anchor protein deficiency]]
* [[LPS-responsive beige-like anchor protein deficiency]]
* [[Lafora disease]]
* [[Lafora disease]]
* [[Lamellar ichthyosis]]
* [[Lamellar ichthyosis]]
* [[Langer–Giedion syndrome]]
* [[Langer–Giedion syndrome]]
* [[Laron syndrome]]
* [[Laron syndrome]]
* [[Larsen syndrome]]
* [[Larsen syndrome]]
* [[Late onset congenital adrenal hyperplasia]]
* [[Late onset congenital adrenal hyperplasia]]
* [[Laurence–Moon syndrome]]
* [[Laurence–Moon syndrome]]
* [[Leber's hereditary optic neuropathy]]
* [[Leber's hereditary optic neuropathy]]
* [[Lecithin cholesterol acyltransferase deficiency]]
* [[Lecithin cholesterol acyltransferase deficiency]]
* [[Leigh syndrome]]
* [[Leigh syndrome]]
* [[Lethal congenital contracture syndrome]]
* [[Lethal congenital contracture syndrome]]
* [[Letterer–Siwe disease]]
* [[Letterer–Siwe disease]]
* [[Leucine-sensitive hypoglycemia of infancy]]
* [[Leucine-sensitive hypoglycemia of infancy]]
* [[Leukocyte adhesion deficiency]]
* [[Leukocyte adhesion deficiency]]
* [[Leukocyte adhesion deficiency-1]]
* [[Leukocyte adhesion deficiency-1]]
* [[Leydig cell hypoplasia]]
* [[Leydig cell hypoplasia]]
* [[Liddle's syndrome]]
* [[Liddle's syndrome]]
* [[Lipoid congenital adrenal hyperplasia]]
* [[Lipoid congenital adrenal hyperplasia]]
* [[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]]
* [[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]]
* [[Lucey–Driscoll syndrome]]
* [[Lucey–Driscoll syndrome]]
* [[Lujan–Fryns syndrome]]
* [[Lujan–Fryns syndrome]]
* [[Lysinuric protein intolerance]]
* [[Lysinuric protein intolerance]]
* [[Lysosomal acid lipase deficiency]]
* [[Lysosomal acid lipase deficiency]]
* [[Lysosomal storage disease]]
* [[Lysosomal storage disease]]
* [[Lysosomal storage disease]]
* [[Lysosomal storage disease]]
* [[MASA syndrome]]
* [[MASA syndrome]]
* [[MELAS syndrome]]
* [[MELAS syndrome]]
* [[MERRF syndrome]]
* [[MERRF syndrome]]
* [[MOMO syndrome]]
* [[MOMO syndrome]]
* [[MORM syndrome]]
* [[MORM syndrome]]
* [[MPI-CDG]]
* [[MPI-CDG]]
* [[MUTYH-associated polyposis]]
* [[MUTYH-associated polyposis]]
* [[Mahvash disease]]
* [[Mahvash disease]]
* [[Malonyl-CoA decarboxylase deficiency]]
* [[Malonyl-CoA decarboxylase deficiency]]
* [[Malpuech facial clefting syndrome]]
* [[Malpuech facial clefting syndrome]]
* [[Management of thalassemia]]
* [[Management of thalassemia]]
* [[Maple syrup urine disease]]
* [[Maple syrup urine disease]]
* [[Marden–Walker syndrome]]
* [[Marden–Walker syndrome]]
* [[Marfan syndrome]]
* [[Marfan syndrome]]
* [[Marshall syndrome]]
* [[Marshall syndrome]]
* [[May–White syndrome]]
* [[May–White syndrome]]
* [[McLeod syndrome]]
* [[McLeod syndrome]]
* [[Meckel–Gruber syndrome]]
* [[Meckel–Gruber syndrome]]
* [[Medium-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Medium-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Medullary cystic kidney disease]]
* [[Medullary cystic kidney disease]]
* [[Meleda disease]]
* [[Meleda disease]]
* [[Menke-Hennekam syndrome]]
* [[Menke-Hennekam syndrome]]
* [[Menkes disease]]
* [[Menkes disease]]
* [[Metachondromatosis]]
* [[Metachondromatosis]]
* [[Metachromatic leukodystrophy]]
* [[Metachromatic leukodystrophy]]
* [[Methemoglobinemia]]
* [[Methemoglobinemia]]
* [[Methylmalonic acidemia]]
* [[Methylmalonic acidemia]]
* [[Mevalonate kinase deficiency]]
* [[Mevalonate kinase deficiency]]
* [[Michels syndrome]]
* [[Michels syndrome]]
* [[Microspherophakia]]
* [[Microspherophakia]]
* [[Microvillous inclusion disease]]
* [[Microvillous inclusion disease]]
* [[Miller–Dieker syndrome]]
* [[Miller–Dieker syndrome]]
* [[Mismatch repair cancer syndrome]]
* [[Mismatch repair cancer syndrome]]
* [[Mitochondrial DNA depletion syndrome]]
* [[Mitochondrial DNA depletion syndrome]]
* [[Mitochondrial DNA depletion syndrome]]
* [[Mitochondrial DNA depletion syndrome]]
* [[Mitochondrial complex II deficiency]]
* [[Mitochondrial complex II deficiency]]
* [[Mitochondrial complex II deficiency]]
* [[Mitochondrial complex II deficiency]]
* [[Mitochondrial disease]]
* [[Mitochondrial disease]]
* [[Mitochondrial myopathy]]
* [[Mitochondrial myopathy]]
* [[Mitochondrial neurogastrointestinal encephalopathy syndrome]]
* [[Mitochondrial neurogastrointestinal encephalopathy syndrome]]
* [[Mitochondrial neurogastrointestinal encephalopathy syndrome]]
* [[Mitochondrial neurogastrointestinal encephalopathy syndrome]]
* [[Mitochondrial replacement therapy]]
* [[Mitochondrial replacement therapy]]
* [[Mitochondrial trifunctional protein deficiency]]
* [[Mitochondrial trifunctional protein deficiency]]
* [[Monilethrix]]
* [[Monilethrix]]
* [[MonoMAC]]
* [[MonoMAC]]
* [[Morquio syndrome]]
* [[Morquio syndrome]]
* [[Mucolipidosis]]
* [[Mucolipidosis]]
* [[Mucolipidosis type IV]]
* [[Mucolipidosis type IV]]
* [[Mucopolysaccharidosis]]
* [[Mucopolysaccharidosis]]
* [[Mucopolysaccharidosis type I]]
* [[Mucopolysaccharidosis type I]]
* [[Mulibrey nanism]]
* [[Mulibrey nanism]]
* [[Multiple endocrine neoplasia]]
* [[Multiple endocrine neoplasia]]
* [[Multiple endocrine neoplasia type 1]]
* [[Multiple endocrine neoplasia type 1]]
* [[Multiple endocrine neoplasia type 2]]
* [[Multiple endocrine neoplasia type 2]]
* [[Multiple endocrine neoplasia type 2B]]
* [[Multiple endocrine neoplasia type 2B]]
* [[Multiple sulfatase deficiency]]
* [[Multiple sulfatase deficiency]]
* [[Myelokathexis]]
* [[Myelokathexis]]
* [[Myotonic dystrophy]]
* [[Myotonic dystrophy]]
* [[N-Acetylglutamate synthase deficiency]]
* [[N-Acetylglutamate synthase deficiency]]
* [[NGLY1 deficiency]]
* [[NGLY1 deficiency]]
* [[Nablus mask-like facial syndrome]]
* [[Nablus mask-like facial syndrome]]
* [[Naegeli–Franceschetti–Jadassohn syndrome]]
* [[Naegeli–Franceschetti–Jadassohn syndrome]]
* [[Nail–patella syndrome]]
* [[Nail–patella syndrome]]
* [[Nakajo syndrome]]
* [[Nakajo syndrome]]
* [[Nasodigitoacoustic syndrome]]
* [[Nasodigitoacoustic syndrome]]
* [[Nemaline myopathy]]
* [[Nemaline myopathy]]
* [[Nephronophthisis]]
* [[Nephronophthisis]]
* [[Netherton syndrome]]
* [[Netherton syndrome]]
* [[Neuronal ceroid lipofuscinosis]]
* [[Neuronal ceroid lipofuscinosis]]
* [[Neuropathy, ataxia, and retinitis pigmentosa]]
* [[Neuropathy, ataxia, and retinitis pigmentosa]]
* [[Neu–Laxova syndrome]]
* [[Neu–Laxova syndrome]]
* [[Nevo syndrome]]
* [[Nevo syndrome]]
* [[Nezelof syndrome]]
* [[Nezelof syndrome]]
* [[Niemann–Pick disease]]
* [[Niemann–Pick disease]]
* [[Niemann–Pick disease, SMPD1-associated]]
* [[Niemann–Pick disease, SMPD1-associated]]
* [[Niemann–Pick disease, type C]]
* [[Niemann–Pick disease, type C]]
* [[Nijmegen breakage syndrome]]
* [[Nijmegen breakage syndrome]]
* [[Nonsyndromic deafness]]
* [[Nonsyndromic deafness]]
* [[Noonan syndrome]]
* [[Noonan syndrome]]
* [[Norrie disease]]
* [[Norrie disease]]
* [[North American Indian childhood cirrhosis]]
* [[North American Indian childhood cirrhosis]]
* [[Occipital horn syndrome]]
* [[Occipital horn syndrome]]
* [[Ochronosis]]
* [[Ochronosis]]
* [[Ocular albinism]]
* [[Ocular albinism]]
* [[Ocular albinism type 1]]
* [[Ocular albinism type 1]]
* [[Oculocerebrorenal syndrome]]
* [[Oculocerebrorenal syndrome]]
* [[Oculocutaneous albinism]]
* [[Oculocutaneous albinism]]
* [[Oculocutaneous albinism type I]]
* [[Oculocutaneous albinism type I]]
* [[Oculodentodigital dysplasia]]
* [[Oculodentodigital dysplasia]]
* [[Oculofaciocardiodental syndrome]]
* [[Oculofaciocardiodental syndrome]]
* [[Oculopharyngeal muscular dystrophy]]
* [[Oculopharyngeal muscular dystrophy]]
* [[Oguchi disease]]
* [[Oguchi disease]]
* [[Omenn syndrome]]
* [[Omenn syndrome]]
* [[Opsismodysplasia]]
* [[Opsismodysplasia]]
* [[Ornithine aminotransferase deficiency]]
* [[Ornithine aminotransferase deficiency]]
* [[Ornithine transcarbamylase deficiency]]
* [[Ornithine transcarbamylase deficiency]]
* [[Ornithine translocase deficiency]]
* [[Ornithine translocase deficiency]]
* [[Orotic aciduria]]
* [[Orotic aciduria]]
* [[Otospondylomegaepiphyseal dysplasia]]
* [[Otospondylomegaepiphyseal dysplasia]]
* [[PAPA syndrome]]
* [[PAPA syndrome]]
* [[Pachyonychia congenita]]
* [[Pachyonychia congenita]]
* [[Pallister–Hall syndrome]]
* [[Pallister–Hall syndrome]]
* [[Papillary fibroelastoma]]
* [[Papillary fibroelastoma]]
* [[Papillary fibroelastoma]]
* [[Papillary fibroelastoma]]
* [[Papillon–Lefèvre syndrome]]
* [[Papillon–Lefèvre syndrome]]
* [[Papillorenal syndrome]]
* [[Papillorenal syndrome]]
* [[Parastremmatic dwarfism]]
* [[Parastremmatic dwarfism]]
* [[Pascual-Castroviejo syndrome type 1]]
* [[Pascual-Castroviejo syndrome type 1]]
* [[Pearson syndrome]]
* [[Pearson syndrome]]
 
* [[Pelger–Hu√´t anomaly]]
* [[Pelger–Huët anomaly]]
 
* [[Pelizaeus–Merzbacher disease]]
* [[Pelizaeus–Merzbacher disease]]
* [[Pendred syndrome]]
* [[Pendred syndrome]]
* [[Persistent Müllerian duct syndrome]]
* [[Persistent Müllerian duct syndrome]]
* [[Peutz–Jeghers syndrome]]
* [[Peutz–Jeghers syndrome]]
* [[Phenylketonuria]]
* [[Phenylketonuria]]
* [[Phosphofructokinase deficiency]]
* [[Phosphofructokinase deficiency]]
* [[Piebaldism]]
* [[Piebaldism]]
* [[Pipecolic acidemia]]
* [[Pipecolic acidemia]]
* [[Platyspondylic lethal skeletal dysplasia, Torrance type]]
* [[Platyspondylic lethal skeletal dysplasia, Torrance type]]
* [[Polydactyly]]
* [[Polydactyly]]
* [[Polymerase proofreading-associated polyposis]]
* [[Polymerase proofreading-associated polyposis]]
* [[Pontocerebellar hypoplasia]]
* [[Pontocerebellar hypoplasia]]
* [[Popliteal pterygium syndrome]]
* [[Popliteal pterygium syndrome]]
* [[Porphyria cutanea tarda]]
* [[Porphyria cutanea tarda]]
* [[Primary ciliary dyskinesia]]
* [[Primary ciliary dyskinesia]]
* [[Prolidase deficiency]]
* [[Prolidase deficiency]]
* [[Propionic acidemia]]
* [[Propionic acidemia]]
* [[Pseudo-Hurler polydystrophy]]
* [[Pseudo-Hurler polydystrophy]]
* [[Pseudoachondroplasia]]
* [[Pseudoachondroplasia]]
* [[Pseudodominance]]
* [[Pseudodominance]]
* [[Pseudoxanthoma elasticum]]
* [[Pseudoxanthoma elasticum]]
* [[Purine nucleoside phosphorylase deficiency]]
* [[Purine nucleoside phosphorylase deficiency]]
* [[Pycnodysostosis]]
* [[Pycnodysostosis]]
* [[Pyruvate carboxylase deficiency]]
* [[Pyruvate carboxylase deficiency]]
* [[RAPADILINO syndrome]]
* [[RAPADILINO syndrome]]
* [[RASopathy]]
* [[RASopathy]]
* [[Rabson–Mendenhall syndrome]]
* [[Rabson–Mendenhall syndrome]]
* [[Raine syndrome]]
* [[Raine syndrome]]
* [[Refsum disease]]
* [[Refsum disease]]
* [[Reis–Bucklers corneal dystrophy]]
* [[Reis–Bucklers corneal dystrophy]]
* [[Renal dysplasia-limb defects syndrome]]
* [[Renal dysplasia-limb defects syndrome]]
* [[Renal–hepatic–pancreatic dysplasia]]
* [[Renal–hepatic–pancreatic dysplasia]]
* [[Renpenning's syndrome]]
* [[Renpenning's syndrome]]
* [[Reproductive compensation]]
* [[Reproductive compensation]]
* [[Restrictive dermopathy]]
* [[Restrictive dermopathy]]
* [[Rett syndrome]]
* [[Rett syndrome]]
* [[Roberts syndrome]]
* [[Roberts syndrome]]
* [[Romano–Ward syndrome]]
* [[Romano–Ward syndrome]]
* [[Rosselli–Gulienetti syndrome]]
* [[Rosselli–Gulienetti syndrome]]
* [[Rothmund–Thomson syndrome]]
* [[Rothmund–Thomson syndrome]]
* [[Rotor syndrome]]
* [[Rotor syndrome]]
* [[Roussy–Lévy syndrome]]
* [[Roussy–Lévy syndrome]]
* [[Rubinstein–Taybi syndrome]]
* [[Rubinstein–Taybi syndrome]]
* [[Ruijs-Aalfs syndrome]]
* [[Ruijs-Aalfs syndrome]]
* [[STING-associated vasculopathy with onset in infancy]]
* [[STING-associated vasculopathy with onset in infancy]]
* [[SYT1-associated neurodevelopmental disorder]]
* [[SYT1-associated neurodevelopmental disorder]]
* [[Sabinas brittle hair syndrome]]
* [[Sabinas brittle hair syndrome]]
* [[Saethre–Chotzen syndrome]]
* [[Saethre–Chotzen syndrome]]
* [[Salla disease]]
* [[Salla disease]]
* [[Sandhoff disease]]
* [[Sandhoff disease]]
* [[Sanfilippo syndrome]]
* [[Sanfilippo syndrome]]
* [[Sanjad-Sakati syndrome]]
* [[Sanjad-Sakati syndrome]]
* [[Sarcosinemia]]
* [[Sarcosinemia]]
* [[Say–Meyer syndrome]]
* [[Say–Meyer syndrome]]
* [[Schmitt Gillenwater Kelly syndrome]]
* [[Schmitt Gillenwater Kelly syndrome]]
* [[Sengers syndrome]]
* [[Sengers syndrome]]
* [[Senior–Løken syndrome]]
* [[Senior–Løken syndrome]]
* [[Severe congenital neutropenia]]
* [[Severe congenital neutropenia]]
* [[Severe congenital neutropenia]]
* [[Severe congenital neutropenia]]
* [[Short QT syndrome]]
* [[Short QT syndrome]]
* [[Short-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Short-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Shwachman–Diamond syndrome]]
* [[Shwachman–Diamond syndrome]]
* [[Sickle Cell Anemia, a Molecular Disease]]
* [[Sickle Cell Anemia, a Molecular Disease]]
* [[Sickle cell disease]]
* [[Sickle cell disease]]
* [[Sickle cell trait]]
* [[Sickle cell trait]]
* [[Simpson–Golabi–Behmel syndrome]]
* [[Simpson–Golabi–Behmel syndrome]]
* [[Singleton Merten syndrome]]
* [[Singleton Merten syndrome]]
* [[Situs inversus]]
* [[Situs inversus]]
* [[Sly syndrome]]
* [[Sly syndrome]]
* [[Smith–Fineman–Myers syndrome]]
* [[Smith–Fineman–Myers syndrome]]
* [[Smith–Lemli–Opitz syndrome]]
* [[Smith–Lemli–Opitz syndrome]]
* [[Spastic ataxia-corneal dystrophy syndrome]]
* [[Spastic ataxia-corneal dystrophy syndrome]]
* [[Spinal and bulbar muscular atrophy]]
* [[Spinal and bulbar muscular atrophy]]
* [[Spinal muscular atrophy]]
* [[Spinal muscular atrophy]]
* [[Spinal muscular atrophy with lower extremity predominance]]
* [[Spinal muscular atrophy with lower extremity predominance]]
* [[Spinal muscular atrophy with progressive myoclonic epilepsy]]
* [[Spinal muscular atrophy with progressive myoclonic epilepsy]]
* [[Spinocerebellar ataxia]]
* [[Spinocerebellar ataxia]]
* [[Spinocerebellar ataxia type 1]]
* [[Spinocerebellar ataxia type 1]]
* [[Spinocerebellar ataxia type 6]]
* [[Spinocerebellar ataxia type 6]]
* [[Sponastrime dysplasia]]
* [[Sponastrime dysplasia]]
* [[Spondylo-meta-epiphyseal dysplasia]]
* [[Spondylo-meta-epiphyseal dysplasia]]
* [[Spondylo-ocular syndrome]]
* [[Spondylo-ocular syndrome]]
* [[Spondyloepimetaphyseal dysplasia, Strudwick type]]
* [[Spondyloepimetaphyseal dysplasia, Strudwick type]]
* [[Spondyloepiphyseal dysplasia congenita]]
* [[Spondyloepiphyseal dysplasia congenita]]
* [[Spondyloperipheral dysplasia]]
* [[Spondyloperipheral dysplasia]]
* [[Sporadic late-onset nemaline myopathy]]
* [[Sporadic late-onset nemaline myopathy]]
* [[Stickler syndrome]]
* [[Stickler syndrome]]
* [[Succinic semialdehyde dehydrogenase deficiency]]
* [[Succinic semialdehyde dehydrogenase deficiency]]
* [[Sugarman syndrome]]
* [[Sugarman syndrome]]
* [[Systemic primary carnitine deficiency]]
* [[Systemic primary carnitine deficiency]]
* [[TRIANGLE disease]]
* [[TRIANGLE disease]]
* [[Tafazzin]]
* [[Tafazzin]]
* [[Tangier disease]]
* [[Tangier disease]]
* [[Tay–Sachs disease]]
* [[Tay–Sachs disease]]
* [[Template:X-linked disorders]]
* [[Template:X-linked disorders]]
* [[Template:X-linked disorders]]
* [[Template:X-linked disorders]]
* [[Tetra-amelia syndrome]]
* [[Tetra-amelia syndrome]]
* [[Tetrahydrobiopterin deficiency]]
* [[Tetrahydrobiopterin deficiency]]
* [[Thalassemia]]
* [[Thalassemia]]
* [[Thiamine responsive megaloblastic anemia syndrome]]
* [[Thiamine responsive megaloblastic anemia syndrome]]
* [[Threshold expression]]
* [[Threshold expression]]
* [[Tietz syndrome]]
* [[Tietz syndrome]]
* [[Timothy syndrome]]
* [[Timothy syndrome]]
* [[Treacher Collins syndrome]]
* [[Treacher Collins syndrome]]
* [[Trichothiodystrophy]]
* [[Trichothiodystrophy]]
* [[Tricho–dento–osseous syndrome]]
* [[Tricho–dento–osseous syndrome]]
* [[Trimethylaminuria]]
* [[Trimethylaminuria]]
* [[Triosephosphate isomerase deficiency]]
* [[Triosephosphate isomerase deficiency]]
* [[Triple-A syndrome]]
* [[Triple-A syndrome]]
* [[Tuberous sclerosis]]
* [[Tuberous sclerosis]]
* [[Tyrosinemia]]
* [[Tyrosinemia]]
* [[Tyrosinemia type I]]
* [[Tyrosinemia type I]]
* [[Tyrosinemia type II]]
* [[Tyrosinemia type II]]
* [[Tyrosinemia type III]]
* [[Tyrosinemia type III]]
* [[Unverricht–Lundborg disease]]
* [[Unverricht–Lundborg disease]]
* [[Upington disease]]
* [[Upington disease]]
* [[Urbach–Wiethe disease]]
* [[Urbach–Wiethe disease]]
* [[Urocanic aciduria]]
* [[Urocanic aciduria]]
* [[Urofacial syndrome]]
* [[Urofacial syndrome]]
* [[Usher syndrome]]
* [[Usher syndrome]]
* [[Variegate porphyria]]
* [[Variegate porphyria]]
* [[Very long-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Very long-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Vici syndrome]]
* [[Vici syndrome]]
* [[Vitelliform macular dystrophy]]
* [[Vitelliform macular dystrophy]]
* [[Von Hippel–Lindau disease]]
* [[Von Hippel–Lindau disease]]
* [[Von Willebrand disease]]
* [[Von Willebrand disease]]
* [[WHIM syndrome]]
* [[WHIM syndrome]]
* [[Walker–Warburg syndrome]]
* [[Walker–Warburg syndrome]]
* [[Wallis–Zieff–Goldblatt syndrome]]
* [[Wallis–Zieff–Goldblatt syndrome]]
* [[Warburg Micro syndrome]]
* [[Warburg Micro syndrome]]
* [[Weissenbacher–Zweymüller syndrome]]
* [[Weissenbacher–Zweymüller syndrome]]
* [[Werner syndrome]]
* [[Werner syndrome]]
* [[White sponge nevus]]
* [[White sponge nevus]]
* [[Wieacker syndrome]]
* [[Wieacker syndrome]]
* [[Wiedemann–Rautenstrauch syndrome]]
* [[Wiedemann–Rautenstrauch syndrome]]
* [[Wilson's disease]]
* [[Wilson's disease]]
* [[Wolcott–Rallison syndrome]]
* [[Wolcott–Rallison syndrome]]
* [[Wolfram syndrome]]
* [[Wolfram syndrome]]
* [[Woodhouse–Sakati syndrome]]
* [[Woodhouse–Sakati syndrome]]
* [[Worth syndrome]]
* [[Worth syndrome]]
* [[Wrinkly skin syndrome]]
* [[Wrinkly skin syndrome]]
* [[X-linked agammaglobulinemia]]
* [[X-linked agammaglobulinemia]]
* [[X-linked dominant inheritance]]
* [[X-linked dominant inheritance]]
* [[X-linked dystonia parkinsonism]]
* [[X-linked dystonia parkinsonism]]
* [[X-linked hypophosphatemia]]
* [[X-linked hypophosphatemia]]
* [[X-linked intellectual disability]]
* [[X-linked intellectual disability]]
* [[X-linked recessive chondrodysplasia punctata]]
* [[X-linked recessive chondrodysplasia punctata]]
* [[X-linked spinal muscular atrophy type 2]]
* [[X-linked spinal muscular atrophy type 2]]
* [[XMEN disease]]
* [[XMEN disease]]
* [[Xeroderma pigmentosum]]
* [[Xeroderma pigmentosum]]
* [[Young–Madders syndrome]]
* [[Young–Madders syndrome]]
* [[Yunis–Varon syndrome]]
* [[Yunis–Varon syndrome]]
* [[ZAP70 deficiency]]
* [[ZAP70 deficiency]]
* [[Zamzam–Sheriff–Phillips syndrome]]
* [[Zamzam–Sheriff–Phillips syndrome]]
* [[Zaspopathy]]
* [[Zaspopathy]]
* [[Zellweger spectrum disorders]]
* [[Zellweger spectrum disorders]]
* [[Zimmermann–Laband syndrome]]
* [[Zimmermann–Laband syndrome]]
* [[Zori–Stalker–Williams syndrome]]
* [[Zori–Stalker–Williams syndrome]]
* [[Zunich–Kaye syndrome]]
* [[Zunich–Kaye syndrome]]
{{div col end}}
{{div col end}}
Line 1,212: Line 634:
== References ==
== References ==
<references />
<references />
== See Also ==
== See Also ==
* [[Genetics]]
* [[Genetics]]
* [[Genetic testing]]
* [[Genetic testing]]

Latest revision as of 10:10, 13 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Genetic disorder
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Varies widely depending on the specific disorder
Complications Developmental delay, intellectual disability, physical disability, chronic illness
Onset Congenital or later in life
Duration Lifelong
Types N/A
Causes Genetic mutation, chromosomal abnormality
Risks Family history, consanguinity, advanced parental age
Diagnosis Genetic testing, prenatal screening, newborn screening
Differential diagnosis Acquired disorder
Prevention Genetic counseling, preimplantation genetic diagnosis
Treatment Symptomatic treatment, gene therapy, enzyme replacement therapy
Medication N/A
Prognosis Varies widely
Frequency Varies by specific disorder
Deaths N/A


Autosomal Recessive Inheritance for Affected Enzyme
Human Karyotype with Bands and Sub-bands
Down Syndrome Karyotype
Personal Genomics Gene Therapy Flowchart

A genetic disorder refers to a condition that is caused in part or in whole by changes, or mutations, in the DNA sequence of a specific gene or set of genes. These genetic changes can be inherited from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and function of the body, and abnormalities can result in a wide range of health problems.

Types of Genetic Disorders[edit]

Genetic disorders are classified into four primary categories based on the way they are inherited:

Diagnosis and Treatment[edit]

Genetic disorders can be diagnosed through genetic testing, which includes methods such as gene sequencing and chromosomal analysis. Prenatal testing is available for some genetic disorders to identify risks in unborn children. Treatment varies widely depending on the specific disorder and its severity. Some genetic disorders can be managed with medication or dietary modification, while others may require surgery or physical therapy. Genetic counselling is often recommended for families affected by genetic disorders to understand the risk of recurrence in future pregnancies.

Future Perspectives[edit]

Advancements in the field of genetics and genomics, including gene therapy and CRISPR gene-editing technologies, offer potential for future treatments and possibly cures for some genetic disorders.

List of genetic diseases[edit]



Genetics
Key components
<section begin=Key components /> <section end=Key components />
Fields
Archaeogenetics of
<section begin=Archaeogenetics /> <section end=Archaeogenetics />
Related topics
Lists
<section begin=Lists /> <section end=Lists />


Genetic_diseases-A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

References[edit]

<references />

See Also[edit]

This article is a medical stub. You can help WikiMD by expanding it!
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