Tietz syndrome
monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13
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Tietz syndrome
Summary
Tietz syndrome is a head and neck disease[1]. It draws 51 Wikipedia views per month (head_and_neck_disease category, ranking #56 of 92).[2]
Key Facts
- Tietz syndrome's instance of is recorded as head and neck disease[3].
- Tietz syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- Tietz syndrome's instance of is recorded as rare disease[5].
- Tietz syndrome's instance of is recorded as class of disease[6].
- Tietz syndrome is a type of syndromic genetic deafness[7].
- Tietz syndrome is a type of pigmentation disorder with eye involvement, excluding albinism[8].
- Tietz syndrome is a type of leukoderma[9].
- Tietz syndrome is a type of autosomal dominant disease[10].
- Tietz syndrome is a type of syndrome[11].
- Tietz syndrome's ICD-9-CM is recorded as 270.2[12].
- Tietz syndrome's different from is recorded as Tietze syndrome[13].
- Tietz syndrome's health specialty is recorded as pediatrics[14].
- Tietz syndrome's genetic association is recorded as MITF[15].
- Tietz syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090002[16].
- Tietz syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0090002[17].
- Tietz syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_42665[18].
- Tietz syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
Tietz syndrome draws 51 Wikipedia views per month (head_and_neck_disease category, ranking #56 of 92).[2]