Details of Disease | DrugMAP

General Information of Disease (ID: DISBQJV3)

Disease Name	Deaf blind hypopigmentation syndrome, Yemenite type
Synonyms	Warburg Thomsen syndrome; Yemenite (Warburg) deaf-blind hypopigmentation syndrome; Warburg-Thomsen syndrome; Yemenite deaf-blind hypopigmentation syndrome
Definition	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Disease Hierarchy	DIS39YKC: Hypopigmentation of the skin DISBQJV3: Deaf blind hypopigmentation syndrome, Yemenite type
Disease Identifiers	MONDO ID MONDO_0011133 MESH ID C536771 UMLS CUI C1866425 OMIM ID 601706 MedGen ID 355712 Orphanet ID 3214 SNOMED CT ID 721084001

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
SOX10	OTF25ULQ	Definitive	Autosomal dominant	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.