MCID: RTS001
MIFTS: 27

Ritscher-Schinzel Syndrome

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

Aliases & Classifications for Ritscher-Schinzel Syndrome

MalaCards integrated aliases for Ritscher-Schinzel Syndrome:

Name: Ritscher-Schinzel Syndrome 12 14
3c Syndrome 12 41 69
Craniocerebellocardiac Dysplasia 12
Ccc Dysplasia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060565
ICD10 32 Q87.8
MeSH 41 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 1 and ritscher-schinzel syndrome 2. 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:

43
# 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 DPH1 FOXC1 FOXF1 FOXQ1 CHD7

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:

(show all 13)
# Title Authors Year
1
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2016
2
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. ( 25712599 )
2015
3
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
4
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. ( 23072186 )
2012
5
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. ( 18957854 )
2008
6
3C syndrome with cryptorchidism and posterior embryotoxon. ( 15770133 )
2005
7
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. ( 16155425 )
2005
8
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. ( 15704124 )
2005
9
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. ( 8957516 )
1996
10
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. ( 7604842 )
1995
11
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. ( 8157023 )
1994
12
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. ( 9435781 )
1993
13
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:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.63 CCDC22 CHD7 DPH1 FOXC1 OPTN WASHC5
2 recycling endosome membrane GO:0055038 8.96 OPTN WASH6P
3 WASH complex GO:0071203 8.62 WASH6P WASHC5

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

# 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 somitogenesis GO:0001756 9.4 FOXC1 FOXF1
4 heart morphogenesis GO:0003007 9.37 CHD7 FOXC1
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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