Adams-oliver syndrome 1

Preferred Label : Adams-oliver syndrome 1;

Symbol : AOS1;

CISMeF acronym : AOS; AOS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Absence defect of limbs, scalp, and skull; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; AOS;

Included titles and symbols : Aplasia cutis congenita, congenital heart defect, and frontonasal cysts;

Description : Adams-Oliver syndrome (AOS) is characterized by the congenital absence of skin, known as 'aplasia cutis congenita,' usually limited to the scalp vertex, and transverse limb defects. The clinical features are highly variable and can also include vascular defects, congenital cardiac malformations, and other abnormalities (summary by Verdyck et al., 2006). - Genetic Heterogeneity of Adams-Oliver Syndrome Another autosomal dominant form of Adams-Oliver syndrome (AOS3; 614814) is caused by mutation in the RBPJ gene (147183) on chromosome 4p15. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13.2, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rho GTPase-activating protein 31 gene (ARHGAP31, 610911.0001);

Prefixed ID : #100300;

Details

Origin ID

100300;

UMLS CUI

C4551482;

Automatic exact mappings (from CISMeF team)
- ARHGAP31 wt Allele [NCIt concept]
- Adams-Oliver syndrome [MedDRA Preferred Term]
- Aneurysm-osteoarthritis syndrome [ORDO Disease]
- SAE1 wt Allele [NCIt concept]
- SUMO1 activating enzyme subunit 1 [HGNC gene]
- aplasia cutis congenita, congenital heart defect, and frontonasal cysts [MeSH Supplementary Concept]
- aplasia cutis congenita, congenital heart defect, and frontonasal cysts [MeSH concept]
- sleep apnea, obstructive [MeSH Descriptor]
Currated CISMeF NLP mapping
- Adams Oliver syndrome [MeSH concept]
- Adams-Oliver syndrome [PASCAL descriptor]
- Adams-Oliver syndrome [ICD-11 More detail]
- Adams-Oliver syndrome [DO Concept]
- Adams-Oliver syndrome [ORDO Disease]
- Adams-Oliver syndrome (disorder) [SNOMED CT concept]
- Angola (geographic location) [SNOMED CT concept]
- Doxorubicin/Vincristine [NCIt concept]
- adams oliver syndrome [MeSH Supplementary Concept]
- adams-oliver syndrome [SNOMED Notion]
- angola [MeSH Descriptor]
- angola [MeSH concept]
DO Cross reference
- Adams-Oliver syndrome [DO Concept]
False automatic mappings
- Angola [NCIt concept]
Genes related to phenotype
- Rho gtpase-activating protein 31 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Aortic valve stenosis [HPO term]
- Aplasia cutis congenita on trunk or limbs [HPO term]
- Aplasia cutis congenita over posterior parietal area [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachydactyly [HPO term]
- Calvarial skull defect [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cortical dysplasia [HPO term]
- Cutis marmorata [HPO term]
- Encephalocele [HPO term]
- Esotropia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic left heart [HPO term]
- Hypotonia [HPO term]
- Imperforate hymen [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Pachygyria [HPO term]
- Periventricular leukomalacia [HPO term]
- Polymicrogyria [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Small nail [HPO term]
- Supernumerary nipple [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Toe syndactyly [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Adams-Oliver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adams Oliver syndrome [MeSH concept]
- Adams-Oliver syndrome [ORDO Disease]
- Adams-Oliver syndrome [DO Concept]
- Adams-Oliver syndrome (disorder) [SNOMED CT concept]
- adams oliver syndrome [MeSH Supplementary Concept]
- adams-oliver syndrome [SNOMED Notion]

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