Details of Disease | DrugMAP

General Information of Disease (ID: DIS4G2ZE)

Disease Name	IVIC syndrome
Synonyms	oculootoradial syndrome; radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; OORS; Instituto venezolano de Investigaciones Cientificas syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; IVIC syndrome; oculo-oto-radial syndrome
Definition	IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
Disease Hierarchy	DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DIS4G2ZE: IVIC syndrome
Disease Identifiers	MONDO ID MONDO_0007836 MESH ID C535544 UMLS CUI C1327918 OMIM ID 147750 MedGen ID 233003 Orphanet ID 2307 SNOMED CT ID 722019000

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
SALL4	OTC08PR5	Supportive	Autosomal dominant	[1]
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References

1	IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. Am J Med Genet A. 2007 Feb 15;143(4):326-32. doi: 10.1002/ajmg.a.31603.