MCID: RTS001
MIFTS: 28

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 15
3c Syndrome 12 44 73
Craniocerebellocardiac Dysplasia 12
Ccc Dysplasia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060565
ICD10 33 Q87.8
MeSH 44 C535313
UMLS 73 C0796137

Summaries for Ritscher-Schinzel Syndrome

Disease Ontology : 12 A syndrome characterized by craniofacial (prominent occiputal 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 craniofacial and digestive/alimentary

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 DPH1 FOXC1 FOXQ1 CHD7
2 digestive/alimentary MP:0005381 9.55 DPH1 FOXC1 FOXF1 FOXQ1 CHD7
3 embryo MP:0005380 9.35 DPH1 FOXC1 FOXF1 FOXQ1 CHD7
4 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 14)
# Title Authors Year
1
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2016
2
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
3
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. ( 25712599 )
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
First report of glaucoma as a feature of the 3C syndrome. ( 7606323 )
1995
12
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. ( 8157023 )
1994
13
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. ( 9435781 )
1993
14
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 9.43 CCDC22 CHD7 DPH1 FOXC1 OPTN WASHC5
2 recycling endosome membrane GO:0055038 9.16 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 9.48 WASH6P WASHC5
2 camera-type eye development GO:0043010 9.46 CHD7 FOXC1
3 heart morphogenesis GO:0003007 9.43 CHD7 FOXC1
4 in utero embryonic development GO:0001701 9.43 CHD7 FOXC1 FOXF1
5 somitogenesis GO:0001756 9.4 FOXC1 FOXF1
6 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.37 CCDC22 OPTN
7 blood vessel remodeling GO:0001974 9.32 CHD7 FOXC1
8 artery morphogenesis GO:0048844 9.16 CHD7 FOXC1
9 anatomical structure morphogenesis GO:0009653 9.13 FOXC1 FOXF1 FOXQ1
10 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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