Immunodeficiency-centromeric instability-facial anomalies syndrome 3

Preferred Label : Immunodeficiency-centromeric instability-facial anomalies syndrome 3;

Symbol : ICF3;

CISMeF acronym : ICF3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cell division cycle-associated protein 7 gene (CDCA7, 609937.0001);

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

Prefixed ID : #616910;

Details

Origin ID

616910;

UMLS CUI

C4310799;

CISMeF manual mappings
- immunodeficiency-centromeric instability-facial anomalies syndrome 3 [DO Concept]
DO Cross reference
- immunodeficiency-centromeric instability-facial anomalies syndrome 3 [DO Concept]
Genes related to phenotype
- Cell division cycle-associated protein 7 [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating antibody level [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic ischia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Polydactyly [HPO term]
- Recurrent infections [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
Not associated HPO term(s)
- Abnormal B cell morphology [HPO term]
ORDO concept(s)
- ICF syndrome [ORDO Disease]
See also inter- (CISMeF)
- CDCA7 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency-centromeric instability-facial anomalies syndrome 3 [DO Concept]

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