Details of Disease | DrugMAP

General Information of Disease (ID: DIS7C3ME)

Disease Name	Ritscher-Schinzel syndrome 1
Synonyms	RTSC; 3C syndrome; RTSC1; Ritscher-Schinzel syndrome; Dandy-Walker-like malformation with atrioventricular septal defect; Craniocerebellocardiac dysplasia; Ritscher-Schinzel syndrome caused by mutation in WASHC5; Ritscher-Schinzel syndrome type 1; Ritscher-Schinzel syndrome 1; WASHC5 Ritscher-Schinzel syndrome
Definition	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.
Disease Hierarchy	DIS5TSUC: Ritscher-Schinzel syndrome DIS7C3ME: Ritscher-Schinzel syndrome 1
Disease Identifiers	MONDO ID MONDO_0009073 UMLS CUI C4551776 OMIM ID 220210 MedGen ID 1634646

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WASHC5	OTTG1POH	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.