Details of Disease | DrugMAP

General Information of Disease (ID: DISQO525)

Disease Name	Adams-Oliver syndrome
Synonyms	limb scalp and skull defects; Adams Oliver syndrome; AOS; limb, scalp and skull defects; congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb reduction anomalies
Definition	Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
Disease Hierarchy	DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISQO525: Adams-Oliver syndrome
Disease Identifiers	MONDO ID MONDO_0007034 UMLS CUI C0265268 MedGen ID 78544 Orphanet ID 974 SNOMED CT ID 34748004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL4	TTV23LH	Limited	Genetic Variation	[1]
NOTCH1	TTB1STW	Limited	Genetic Variation	[2]
DLL4	TTV23LH	Supportive	Autosomal dominant	[3]
RBPJ	TT72D4Z	Supportive	Autosomal dominant	[4]
RBPJ	TT72D4Z	Strong	GermlineCausalMutation	[4]
NOTCH1	TTB1STW	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGAP31	OTUYTF4I	Supportive	Autosomal dominant	[6]
DLL4	OTRA4K2V	Supportive	Autosomal dominant	[3]
EOGT	OT4A2A8P	Supportive	Autosomal dominant	[7]
RBPJ	OTD7CUG0	Supportive	Autosomal dominant	[4]
DOCK6	OTPNUVLT	Definitive	Autosomal recessive	[8]
NOTCH1	OTI1WADQ	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 6 DOT(s)

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	Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.
4	RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.
5	Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 8;437(7056):270-4. doi: 10.1038/nature03940. Epub 2005 Jul 17.
6	Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.
7	Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.
8	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.