Preferred Label : Vici syndrome;
Symbol : VICIS;
CISMeF acronym : VICIS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus
callosum;
Description : Vici syndrome is 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 (summary by Finocchi et al., 2012).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ectopic P-granules autophagy protein 5 homolog gene (EPG5,
615068.0001);
Laboratory abnormalities : Normal IgA levels; Reduced IgG levels, particularly IgG2 subclass; Normal IgM levels;
Prefixed ID : #242840;
Origin ID : 242840;
UMLS CUI : C1855772;
CISMeF manual mappings
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)