Vici syndrome - CISMeF

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;

Détails

Origin ID

242840;

UMLS CUI

C1855772;

CISMeF manual mappings
- Vici syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Absent corpus callosum cataract immunodeficiency [MeSH concept]
- Corpus callosum agenesis – cataract – immunodeficiency [ICD-11 More detail]
- Vici Syndrome [NCIt concept]
- Vici syndrome [DO Concept]
- Vici syndrome [ORDO Disease]
- absent corpus callosum cataract immunodeficiency [MeSH Supplementary Concept]
DO Cross reference
- Vici syndrome [DO Concept]
Genes related to phenotype
- Ectopic p-granules autophagy protein 5 homolog [OMIM gene]
HPO term(s)
- Abnormal posturing [HPO term]
- Abnormality of the thymus [HPO term]
- Acidosis [HPO term]
- Agenesis of corpus callosum [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Congenital onset [HPO term]
- Congestive heart failure [HPO term]
- Cutaneous anergy [HPO term]
- Decreased T cell activation [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Developmental cataract [HPO term]
- Dilated cardiomyopathy [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- Immunodeficiency [HPO term]
- Lack of delayed skin hypersensitivity reaction [HPO term]
- Left ventricular hypertrophy [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Penile hypospadias [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bacterial, viral, and fungal infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent viral infections [HPO term]
- Retinal hypopigmentation [HPO term]
- Schizencephaly [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- obsolete White matter neuronal heterotopia [HPO term]
ORDO concept(s)
- Vici syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absent corpus callosum cataract immunodeficiency [MeSH concept]
- Vici Syndrome [NCIt concept]
- Vici syndrome [ORDO Disease]
- Vici syndrome [DO Concept]
- Vici syndrome (disorder) [SNOMED CT concept]
- absent corpus callosum cataract immunodeficiency [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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