Details of Disease

General Information of Disease (ID: DISDORP9)

Disease Name Tietz syndrome
Synonyms TADS; hypopigmentation/deafness of Tietz; Tietz syndrome; hypopigmentation-deafness syndrome; Tietz albinism-deafness syndrome; albinism-deafness of Tietz
Definition
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.|Editor note: consider classification under albinism
Disease Hierarchy
DISB52BH: Eye disorder
DIS39YKC: Hypopigmentation of the skin
DISSCALK: Hereditary skin disorder
DISDORP9: Tietz syndrome
Disease Identifiers
MONDO ID
MONDO_0007077
MESH ID
C536919
UMLS CUI
C0391816
OMIM ID
103500
MedGen ID
98213
Orphanet ID
42665
SNOMED CT ID
403805009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MITF OT6XJCZH Definitive Autosomal dominant [1]
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References

1 The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131.