ZFIN Human Disease: Tietz syndrome

OBO ID: DOID:0090002

Term Name:	Tietz syndrome		Search Ontology:
Synonyms:	albinism-deafness of Tietz hypopigmentation/deafness of Tietz Tietz albinism-deafness syndrome
Definition:	A syndrome 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. (3)
References:	GARD:7772 MESH:C536919 OMIM:103500 ORDO:42665
Ontology:	Human Disease ( DOID:0090002 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER Tietz syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MITF	mitfa mitfb	Tietz albinism-deafness syndrome	103500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None