Adams-oliver syndrome 3

Preferred Label : Adams-oliver syndrome 3;

Symbol : AOS3;

CISMeF acronym : AOS3;

Type : Phenotype, molecular basis known;

Description : Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the recombination signal-binding protein for immunoglobulin kappa J region gene (RBPJ, 147183.0001);

Prefixed ID : #614814;

Details

Origin ID

614814;

UMLS CUI

C3553748;

DO Cross reference
- Adams-Oliver syndrome 3 [DO Concept]
Genes related to phenotype
- Recombination signal-binding protein for immunoglobulin kappa j region [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Absent toe [HPO term]
- Aplasia cutis congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Congenital onset [HPO term]
- Delayed gross motor development [HPO term]
- Global developmental delay [HPO term]
- Hypoplastic fifth fingernail [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Psychomotor retardation [HPO term]
- Short 5th toe [HPO term]
- Short distal phalanx of finger [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
ORDO concept(s)
- Adams-Oliver syndrome [ORDO Disease]
See also inter- (CISMeF)
- RBPJ wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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