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• Autosomal dominant disorder
  '''Autosomal Dominant Disorder''' ...ed on one of the 22 pairs of [[autosome|autosomal chromosomes]]. The term "dominant" refers to the fact that only one copy of the mutated gene, inherited from
  2 KB (228 words) - 04:31, 12 February 2024
• Single gene disorder
  The term "single gene disorder" is derived from the fact that these disorders are caused by defects in a single gene. The term "monogenic" is derived fro === Types of Single Gene Disorders ===
  2 KB (262 words) - 21:44, 11 February 2024
• Keratolytic winter erythema
  ...unciation: ker-uh-toh-lit-ik win-ter er-uh-thee-muh'') is a rare autosomal dominant skin disorder characterized by recurrent episodes of [[erythema]] (redness ...is unknown, but it is believed to be genetic in nature. It is an autosomal dominant condition, meaning that an individual only needs to inherit one copy of the
  1 KB (213 words) - 20:03, 7 February 2024
• Robinow syndrome
  ...he [[autosomal dominant]] form is less severe and more common, while the [[autosomal recessive]] form is more severe and less common. ...ominant form is often caused by mutations in the [[WNT5A]] gene, while the autosomal recessive form can be caused by mutations in the [[ROR2]], [[NXN]], or [[DR
  2 KB (238 words) - 23:14, 9 February 2024
• Monogenic disorder
  ...der]] that is caused by the mutation or alteration of a single gene. These disorders are hereditary and can be passed down from parents to their offspring. The ...sorders can be classified into three main types: [[autosomal dominant]], [[autosomal recessive]], and [[X-linked]].
  2 KB (284 words) - 17:39, 10 February 2024
• Palmoplantar keratoderma
  Palmoplantar keratoderma refers to a group of disorders characterized by abnormal thickening of the skin on the palms and soles. It ...actors, and certain systemic diseases. It can be inherited in an autosomal dominant or recessive manner.
  2 KB (209 words) - 19:51, 7 February 2024
• Kjer's optic neuropathy
  ...e [[OPA1|OPA1 gene]] and is inherited in an [[Autosomal Dominant|autosomal dominant]] manner. * [[Autosomal Dominant]]
  2 KB (258 words) - 02:44, 12 February 2024
• Familial Adenomatous Polyposis
  ...ll growth. This mutation is inherited in an [[Autosomal dominant|autosomal dominant]] manner. * [[Autosomal dominant|Autosomal dominant]]
  2 KB (282 words) - 22:00, 14 February 2024
• Cone dystrophy
  '''Cone dystrophy''' is a group of rare eye disorders that affect the cone cells of the [[retina]], the light-sensitive tissue at ...cells. These mutations are typically inherited in an autosomal dominant or autosomal recessive manner.
  2 KB (290 words) - 00:26, 9 February 2024
• Weill-marchesani syndrome
  ...TBP2]] genes. It is inherited in an [[autosomal recessive]] or [[autosomal dominant]] manner. * [[Autosomal recessive]]
  2 KB (203 words) - 07:17, 13 February 2024
• Somali
  === Somali Genetic Disorders === Certain genetic disorders are more prevalent in the Somali community due to the high rate of consangu
  2 KB (267 words) - 21:01, 4 February 2024
• Nonsyndromic deafness
  ...e mutated gene for the child to be affected. Other types include autosomal dominant, X-linked, and mitochondrial. * [[Autosomal Recessive]]: A type of inheritance where two copies of an abnormal gene mus
  2 KB (269 words) - 06:25, 11 February 2024
• Cadasil
  '''CADASIL''' (pronounced kuh-DAH-sil), an acronym for '''Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy''', is a gen * [[Autosomal Dominant]]: A pattern of inheritance characteristic of some genetic diseases.
  2 KB (214 words) - 23:00, 4 February 2024
• Pili annulati
  ...is caused by abnormalities in the genes. It is inherited in an [[autosomal dominant]] manner, which means that an affected person has a 50% chance of passing t * [[Autosomal dominant]]
  2 KB (262 words) - 17:54, 7 February 2024
• Huntington
  ...s caused by an inherited defect in a single [[gene]]. It is an [[autosomal dominant]] disorder, which means that a person needs only one copy of the defective * [[Autosomal dominant]]
  2 KB (248 words) - 02:30, 6 February 2024
• Generalized trichoepithelioma
  ...the [[CYLD]] gene. This condition is typically inherited in an [[autosomal dominant]] manner. * [[Autosomal dominant]]
  2 KB (187 words) - 19:20, 11 February 2024
• Posterior polymorphous corneal dystrophy
  ...(mutations) in genes. The condition is usually inherited in an [[autosomal dominant]] manner, which means one copy of the altered gene in each cell is sufficie * [[Autosomal dominant]]
  2 KB (236 words) - 22:39, 7 February 2024
• Frontonasal dysplasia
  ...velopment of the head and face. The condition is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder * [[Autosomal dominant]]
  2 KB (230 words) - 05:39, 11 February 2024
• May Hegglin anomaly
  ...glin Anomaly''' (pronounced: may heg-lin a-nom-a-ly) is a rare [[autosomal dominant]] disorder characterized by [[thrombocytopenia]], large [[platelet]]s, and * [[Autosomal dominant]]
  2 KB (267 words) - 21:59, 11 February 2024
• Papillorenal syndrome
  ...aused by mutations in the [[PAX2]] gene and is inherited in an [[autosomal dominant]] manner. * [[Autosomal dominant]]
  2 KB (255 words) - 06:21, 11 February 2024

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