Details of Disease | DrugMAP

General Information of Disease (ID: DIS5TSUC)

Disease Name	Ritscher-Schinzel syndrome
Synonyms	Dandy-Walker-like malformation with ASD; Ritscher Schinzel syndrome; Ritscher-Schinzel cranio-cerebello-cardiac syndrome; Dandy-Walker-like malformation with atrioventricular septal defect; cranio-cerebello-cardiac dysplasia; Dandy-Walker like malformation with atrioventricular septal defect; 3C syndrome; Ritscher-Schinzel syndrome; CCC dysplasia; craniocerebellocardiac dysplasia; Craniocerebellocardiac dysplasia
Definition	Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS5TSUC: Ritscher-Schinzel syndrome
Disease Identifiers	MONDO ID MONDO_0019078 MESH ID C535313 UMLS CUI C0796137 MedGen ID 163220 Orphanet ID 7 SNOMED CT ID 718556007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS35L	OTT5BG0X	Limited	Autosomal recessive	[1]
WASHC5	OTTG1POH	Supportive	Autosomal recessive	[2]
CCDC22	OT1A1ZXH	Supportive	Autosomal recessive	[3]
DPH1	OT0QU3JY	Strong	Genetic Variation	[4]
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References

1	Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. J Med Genet. 2020 Apr;57(4):245-253. doi: 10.1136/jmedgenet-2019-106213. Epub 2019 Nov 11.
2	A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. J Med Genet. 2013 Dec;50(12):819-22. doi: 10.1136/jmedgenet-2013-101715. Epub 2013 Sep 24.
3	Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.
4	Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.