Immunodeficiency-centromeric instability-facial anomalies syndrome 4

Preferred Label : Immunodeficiency-centromeric instability-facial anomalies syndrome 4;

Symbol : ICF4;

CISMeF acronym : ICF4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lymphoid-specific helicase gene (HELLS, 603946.0001);

Laboratory abnormalities : Hypomethylation of alpha-satellite repeats on chromosome 9; Hypomethylation of satellite repeats on chromosome 1, 9, and 16 Cytogenetic abnormalities;

Prefixed ID : #616911;

Details

Origin ID

616911;

UMLS CUI

C4310798;

CISMeF manual mappings
- immunodeficiency-centromeric instability-facial anomalies syndrome 4 [DO Concept]
DO Cross reference
- immunodeficiency-centromeric instability-facial anomalies syndrome 4 [DO Concept]
Genes related to phenotype
- Helicase, lymphoid-specific [OMIM gene]
HPO term(s)
- Abnormal B cell morphology [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased circulating immunoglobulin concentration [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Recurrent infections [HPO term]
ORDO concept(s)
- ICF syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency-centromeric instability-facial anomalies syndrome 4 [DO Concept]

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