Details of Disease | DrugMAP

General Information of Disease (ID: DISMDVMV)

Disease Name	Ritscher-Schinzel syndrome 2
Synonyms	Ritscher-Schinzel syndrome caused by mutation in CCDC22; Ritscher-Schinzel syndrome 2, X-linked recessive; Ritscher-Schinzel syndrome type 2; RTSC2; CCDC22 Ritscher-Schinzel syndrome; Ritscher-Schinzel syndrome 2
Definition	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.
Disease Hierarchy	DIS5TSUC: Ritscher-Schinzel syndrome DISMDVMV: Ritscher-Schinzel syndrome 2
Disease Identifiers	MONDO ID MONDO_0010499 UMLS CUI C4225419 OMIM ID 300963 MedGen ID 897005

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
CCDC22	OT1A1ZXH	Strong	X-linked	[1]
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References

1	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry. 2012 Jan;17(1):4-7. doi: 10.1038/mp.2011.95. Epub 2011 Aug 9.