Details of Disease | DrugMAP

General Information of Disease (ID: DIS9MS2G)

Disease Name	Autosomal dominant Robinow syndrome 2
Synonyms	Robinow syndrome, autosomal dominant 2; Robinow syndrome, autosomal dominant type 2; DRS2; autosomal dominant Robinow syndrome type 2; autosomal dominant Robinow syndrome caused by mutation in DVL1; DVL1 autosomal dominant Robinow syndrome
Definition	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.
Disease Hierarchy	DIS94N80: Autosomal dominant Robinow syndrome DIS9MS2G: Autosomal dominant Robinow syndrome 2
Disease Identifiers	MONDO ID MONDO_0014591 UMLS CUI C4225363 OMIM ID 616331 MedGen ID 897039

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DVL1	OTD67RF1	Definitive	Autosomal dominant	[1]
DVL3	OTPRROHJ	Definitive	Autosomal dominant	[2]
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References

1	DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.
2	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.