Details of Disease

General Information of Disease (ID: DISLYVHM)

Disease Name Autosomal dominant Robinow syndrome 1
Synonyms
foetal face syndrome; acral dysostosis with Facial and genital abnormalities; Robinow dwarfism; fetal face syndrome; DRS1; Robinow syndrome, autosomal dominant 1; autosomal dominant Robinow syndrome caused by mutation in WNT5A; WNT5A autosomal dominant Robinow syndrome; dysostosis acral with facial and genital abnormalities
Definition Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.
Disease Hierarchy
DIS94N80: Autosomal dominant Robinow syndrome
DISLYVHM: Autosomal dominant Robinow syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024455
UMLS CUI
C4551475
OMIM ID
180700
MedGen ID
1641736

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WNT5A OT27ZYKJ Definitive Autosomal dominant [1]
DVL3 OTPRROHJ Strong CausalMutation [4]
ROR2 OTZ8HZCC Definitive Autosomal dominant [3]
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This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ROR2 TTUDPCI Strong Biomarker [2]
WNT5A TTKG7F8 Strong Biomarker [1]
ROR2 TTUDPCI Definitive Autosomal dominant [3]
WNT5A TTKG7F8 Definitive Autosomal dominant [1]
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References

1 WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156.
2 A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
4 DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25.