MCID: RTS001
MIFTS: 25

Ritscher-Schinzel Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ritscher-Schinzel Syndrome

MalaCards integrated aliases for Ritscher-Schinzel Syndrome:

Name: Ritscher-Schinzel Syndrome 12 14
3c Syndrome 12 42 69
Craniocerebellocardiac Dysplasia 12
Ccc Dysplasia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060565
ICD10 33 Q87.8
MeSH 42 C535313
UMLS 69 C0796137

Summaries for Ritscher-Schinzel Syndrome

Disease Ontology : 12 A syndrome 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.

MalaCards based summary : Ritscher-Schinzel Syndrome, also known as 3c syndrome, is related to ritscher-schinzel syndrome 2 and ritscher-schinzel syndrome 1. An important gene associated with Ritscher-Schinzel Syndrome is CCDC22 (Coiled-Coil Domain Containing 22). Related phenotypes are digestive/alimentary and embryo

Related Diseases for Ritscher-Schinzel Syndrome

Graphical network of the top 20 diseases related to Ritscher-Schinzel Syndrome:



Diseases related to Ritscher-Schinzel Syndrome

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome

MGI Mouse Phenotypes related to Ritscher-Schinzel Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 CHD7 DPH1 FOXC1 FOXF1 FOXQ1
2 embryo MP:0005380 9.35 CHD7 DPH1 FOXC1 FOXF1 FOXQ1
3 respiratory system MP:0005388 9.02 FOXF1 FOXQ1 CHD7 DPH1 FOXC1

Drugs & Therapeutics for Ritscher-Schinzel Syndrome

Search Clinical Trials , NIH Clinical Center for Ritscher-Schinzel Syndrome

Cochrane evidence based reviews: 3c syndrome

Genetic Tests for Ritscher-Schinzel Syndrome

Anatomical Context for Ritscher-Schinzel Syndrome

Publications for Ritscher-Schinzel Syndrome

Articles related to Ritscher-Schinzel Syndrome:

id Title Authors Year
1
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
2
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. ( 25712599 )
2015
3
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. ( 23072186 )
2012
4
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. ( 18957854 )
2008
5
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. ( 16155425 )
2005
6
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. ( 8957516 )
1996
7
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. ( 7604842 )
1995
8
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. ( 8157023 )
1994
9
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). ( 2650935 )
1989

Variations for Ritscher-Schinzel Syndrome

Expression for Ritscher-Schinzel Syndrome

Search GEO for disease gene expression data for Ritscher-Schinzel Syndrome.

Pathways for Ritscher-Schinzel Syndrome

GO Terms for Ritscher-Schinzel Syndrome

Cellular components related to Ritscher-Schinzel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 recycling endosome membrane GO:0055038 8.96 OPTN WASH6P
2 WASH complex GO:0071203 8.62 WASH6P WASHC5

Biological processes related to Ritscher-Schinzel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 9.46 WASH6P WASHC5
2 camera-type eye development GO:0043010 9.43 CHD7 FOXC1
3 heart morphogenesis GO:0003007 9.4 CHD7 FOXC1
4 somitogenesis GO:0001756 9.37 FOXC1 FOXF1
5 in utero embryonic development GO:0001701 9.33 CHD7 FOXC1 FOXF1
6 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.32 CCDC22 OPTN
7 blood vessel remodeling GO:0001974 9.26 CHD7 FOXC1
8 artery morphogenesis GO:0048844 8.96 CHD7 FOXC1
9 blood vessel development GO:0001568 8.8 CHD7 FOXC1 FOXF1

Molecular functions related to Ritscher-Schinzel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.96 FOXC1 FOXF1
2 promoter-specific chromatin binding GO:1990841 8.62 CHD7 FOXC1

Sources for Ritscher-Schinzel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....