Tag: visualeditor-wikitext |
|
| Line 1: |
Line 1: |
| {{distinguish|Tietze syndrome}}
| | |
| {{Infobox medical condition (new) | | {{Infobox medical condition |
| | synonyms = Hypopigmentation-deafness syndrome
| | | name = Tietz syndrome |
| | name = Tietz syndrome | | | image = <!-- Image removed --> |
| | image = Image:Autosomal dominant - en.svg | | | caption = <!-- Caption removed --> |
| | caption = Tietz syndrome has an autosomal dominant pattern of inheritance. | | | field = [[Genetics]] |
| | pronounce =
| | | OMIM = 103500 |
| | field = | |
| | symptoms =
| |
| | complications =
| |
| | onset =
| |
| | duration =
| |
| | types =
| |
| | causes =
| |
| | risks =
| |
| | diagnosis =
| |
| | differential =
| |
| | prevention =
| |
| | treatment =
| |
| | medication =
| |
| | prognosis =
| |
| | frequency =
| |
| | deaths = | |
| }} | | }} |
| '''Tietz syndrome''', also called '''Tietz albinism-deafness syndrome''' or '''albinism and deafness of Tietz''',<ref name=omim>{{OMIM|103500}}</ref> is an [[autosome|autosomal]] [[dominance (genetics)|dominant]]<ref name=tad/> [[congenital disorder]] characterized by [[deafness]] and [[leucism]].<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |page=925 |isbn=978-1-4160-2999-1}}</ref> It is caused by a mutation in the [[microphthalmia-associated transcription factor]] (MITF) gene.<ref name=tad>{{cite journal |vauthors=Smith SD, Kelley PM, Kenyon JB, Hoover D |title=Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF |journal=J. Med. Genet. |volume=37 |issue=6 |pages=446–448 |date=Jun 2000 |pmid=10851256 |doi= 10.1136/jmg.37.6.446|url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=10851256 |format=Free full text |pmc=1734605}}</ref><ref name="pmid9546825">{{cite journal |vauthors=Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM |title=Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome) |journal=Clin. Dysmorphol. |volume=7 |issue=1 |pages=17–20 |date=Jan 1998 |pmid=9546825 |doi= 10.1097/00019605-199801000-00003|url=}}</ref> Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.<ref name="pmid13985019">{{cite journal |author=Tietz W |title=A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance |journal=Am. J. Hum. Genet. |volume=15 |issue= 3|pages=259–264 |date=Sep 1963 |pmid=13985019 |pmc=1932384}}</ref>
| |
|
| |
|
| == Presentation ==
| | '''Tietz syndrome''' is a rare [[autosomal dominant]] [[genetic disorder]] characterized by [[albinism]], [[deafness]], and [[photophobia]]. It is caused by mutations in the [[MITF]] gene, which plays a crucial role in the development of [[melanocytes]], the cells responsible for [[pigmentation]] in the skin, hair, and eyes. |
| Tietz syndrome is characterized by profound hearing loss from birth, white hair and pale skin (hair color may darken over time to blond or red). | |
|
| |
|
| The hearing loss is caused by abnormalities of the inner ear ([[sensorineural hearing loss]]) and is present from birth. Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.
| | == Clinical Features == |
| | Individuals with Tietz syndrome typically present with: |
| | * [[Hypopigmentation]] of the skin and hair, leading to a pale complexion and light-colored hair. |
| | * [[Sensorineural hearing loss]], which is usually present from birth. |
| | * [[Photophobia]], or sensitivity to light, due to the lack of pigmentation in the [[iris]] and [[retina]]. |
|
| |
|
| Tietz syndrome also affects the eyes. The iris in affected individuals is blue, and specialized cells in the eye called [[Retinal pigment epithelium|retinal pigment epithelial]] cells lack their normal pigment. The changes to these cells are generally detectable only by an eye examination; it is unclear whether the changes affect vision.<ref>{{Cite web| url = http://ghr.nlm.nih.gov/condition/tietz-syndrome| title = Tietz syndrome| date = 2016-02-22| website = Genetics Home Reference| access-date = 2016-03-01}}</ref> | | == Genetics == |
| | Tietz syndrome is inherited in an [[autosomal dominant]] pattern, meaning a single copy of the altered [[MITF]] gene in each cell is sufficient to cause the disorder. The [[MITF]] gene provides instructions for making a protein that regulates the development and function of [[melanocytes]]. Mutations in this gene disrupt the normal function of melanocytes, leading to the symptoms of Tietz syndrome. |
|
| |
|
| == Cause == | | == Diagnosis == |
| | Diagnosis of Tietz syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the [[MITF]] gene. Early diagnosis is important for managing the symptoms and providing appropriate interventions, such as [[hearing aids]] for hearing loss and protective measures for [[photophobia]]. |
|
| |
|
| Tietz syndrome is caused by mutations in the [[microphthalmia-associated transcription factor|MITF]] gene, located on human [[chromosome]] [[chromosome 3 (human)|3p14.1-p12.3]].<ref name="tad"/><ref name="pmid9546825"/><ref>{{OMIM|156845}}</ref> It is inherited in an autosomal dominant manner.<ref name=tad/> This indicates that the defective gene responsible for a disorder is located on an [[autosome]] (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.{{citation needed|date=October 2019}} | | == Management == |
| Alternate names
| | Management of Tietz syndrome involves a multidisciplinary approach, including: |
| Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome
| | * [[Audiology]] services to address hearing loss. |
| | * [[Ophthalmology]] consultations for managing photophobia and monitoring eye health. |
| | * [[Dermatology]] care to protect the skin from [[UV radiation]] and prevent [[sunburn]]. |
|
| |
|
| == '''Inheritance''' == | | == See Also == |
| [[File:Autosomal dominant - en.svg|thumb|right|Autosomal dominant pattern, a 50/50 chance.]] | | * [[Waardenburg syndrome]] |
| The inheritance is [[autosomal dominant]].
| | * [[Albinism]] |
| | | * [[Genetic disorders]] |
| == '''Signs and symptoms''' ==
| |
| The signs and symptoms of Tietz syndrome are usually present at birth and may include:
| |
| * Severe, bilateral (both ears) [[sensorineural hearing loss]]
| |
| * Fair skin | |
| * Light-colored hair
| |
| * Blue eyes
| |
| | |
| == '''Clinical presentation''' ==
| |
| For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
| |
| | |
| '''80%-99% of people have these symptoms'''
| |
| * Abnormal anterior chamber morphology
| |
| * Hearing impairment(Deafness)
| |
| * Hypopigmentation of hair(Loss of hair color)
| |
| * Hypopigmentation of the skin(Patchy lightened skin)
| |
| * White eyebrow(Pale eyebrow)
| |
| | |
| == '''Diagnosis''' ==
| |
| * A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) [[sensorineural hearing loss]]; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.
| |
| * Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the '''MITF gene'''.
| |
| * It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
| |
| | |
| == '''Treatment''' ==
| |
| The goal of treatment is to improve hearing; cochlear implantation may be considered.
| |
| | |
| == See also ==
| |
| * [[List of cutaneous conditions]] | |
|
| |
|
| == References == | | == References == |
| <references />
| | {{reflist}} |
| | |
| == External links ==
| |
| {{Medical resources | |
| | DiseasesDB = 34108
| |
| | ICD10 = {{ICD10|E|70|3|e|70}}<BR>([[ILDS]] E70.358)
| |
| | ICD9 =
| |
| | ICDO =
| |
| | OMIM = 103500
| |
| | MedlinePlus =
| |
| | eMedicineSubj =
| |
| | eMedicineTopic =
| |
| | MeshID =
| |
| | Orphanet = 42665
| |
| }}
| |
| *{{RareDiseases|7772|Tietz syndrome; Albinism and complete nerve deafness}}
| |
|
| |
|
| {{Pigmentation disorders}}
| | == External Links == |
| {{Transcription factor/coregulator deficiencies}}
| | * [https://www.omim.org/entry/103500 Tietz syndrome on OMIM] |
| | * [https://rarediseases.info.nih.gov/diseases/10763/tietz-syndrome Tietz syndrome on NIH Rare Diseases] |
|
| |
|
| {{DEFAULTSORT:Tietz Albinism-Deafness Syndrome}}
| | [[Category:Genetic disorders]] |
| [[Category:Autosomal dominant disorders]] | | [[Category:Autosomal dominant disorders]] |
| [[Category:Genetic syndromes]] | | [[Category:Rare diseases]] |
| [[Category:Disturbances of human pigmentation]]
| | [[Category:Deafness]] |
| [[Category:Transcription factor deficiencies]]
| | [[Category:Albinism]] |
| [[Category:Rare syndromes]] | |
| [[Category:Syndromes with sensorineural hearing loss]] | |
| Tietz syndrome
|
|
|
| Synonyms
|
N/A
|
| Pronounce
|
N/A
|
| Specialty
|
N/A
|
| Symptoms
|
N/A
|
| Complications
|
N/A
|
| Onset
|
N/A
|
| Duration
|
N/A
|
| Types
|
N/A
|
| Causes
|
N/A
|
| Risks
|
N/A
|
| Diagnosis
|
N/A
|
| Differential diagnosis
|
N/A
|
| Prevention
|
N/A
|
| Treatment
|
N/A
|
| Medication
|
N/A
|
| Prognosis
|
N/A
|
| Frequency
|
N/A
|
| Deaths
|
N/A
|
Tietz syndrome is a rare autosomal dominant genetic disorder characterized by albinism, deafness, and photophobia. It is caused by mutations in the MITF gene, which plays a crucial role in the development of melanocytes, the cells responsible for pigmentation in the skin, hair, and eyes.
Clinical Features
Individuals with Tietz syndrome typically present with:
Genetics
Tietz syndrome is inherited in an autosomal dominant pattern, meaning a single copy of the altered MITF gene in each cell is sufficient to cause the disorder. The MITF gene provides instructions for making a protein that regulates the development and function of melanocytes. Mutations in this gene disrupt the normal function of melanocytes, leading to the symptoms of Tietz syndrome.
Diagnosis
Diagnosis of Tietz syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the MITF gene. Early diagnosis is important for managing the symptoms and providing appropriate interventions, such as hearing aids for hearing loss and protective measures for photophobia.
Management
Management of Tietz syndrome involves a multidisciplinary approach, including:
See Also
References
<references group="" responsive="1"></references>
External Links
