Details of Disease

General Information of Disease (ID: DISC3I62)

Disease Name Adams-Oliver syndrome 1
Synonyms
aplasia cutis congenita, congenital heart defect, and frontonasal cysts; absence defect of limbs, scalp, and skull; AOS; aplasia cutis congenita with terminal transverse limb defects; congenital scalp defects with distal limb reduction anomalies; ARHGAP31 Adams-Oliver syndrome; Adams-Oliver syndrome caused by mutation in ARHGAP31; AOS1; Adams-Oliver syndrome 1
Definition Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISQO525: Adams-Oliver syndrome
DISC3I62: Adams-Oliver syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024506
MESH ID
C538225
UMLS CUI
C4551482
OMIM ID
100300
MedGen ID
1635567

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DLL4 TTV23LH Strong Genetic Variation [1]
NOTCH1 TTB1STW Strong Genetic Variation [2]
RBPJ TT72D4Z Strong Genetic Variation [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALX4 OTNS9A29 Limited Genetic Variation [4]
ARHGAP31 OTUYTF4I Strong Autosomal dominant [5]
DOCK6 OTPNUVLT Strong Genetic Variation [6]
EOGT OT4A2A8P Strong Genetic Variation [6]
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References

1 Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.Hum Mol Genet. 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270.
2 Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.Clin Genet. 2019 Jan;95(1):85-94. doi: 10.1111/cge.13382. Epub 2018 Jun 10.
3 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.
4 Clinical and molecular analysis of nine families with Adams-Oliver syndrome.Eur J Hum Genet. 2003 Jun;11(6):457-63. doi: 10.1038/sj.ejhg.5200980.
5 Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet. 1979;3(1):35-41. doi: 10.1002/ajmg.1320030109.
6 Adams-Oliver syndrome caused by mutations of the EOGT gene.Am J Med Genet A. 2019 Nov;179(11):2246-2251. doi: 10.1002/ajmg.a.61313. Epub 2019 Jul 31.