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Vici syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Uniprot Description A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy.
Disease Ontology Description An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3.
Mondo Term and Equivalent IDs
MONDO:0009452:  Vici syndrome
GARD:0000448: 
MESH:C535566: 
NCIT:C138174: 
Orphanet:1493: 
SCTID:719824001: 
UMLS:C1855772: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)