MCID: RTS001
MIFTS: 29

Ritscher-Schinzel Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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
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). Affiliated tissues include bone, and 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 CHD7 DPH1 FOXC1 FOXQ1
2 digestive/alimentary MP:0005381 9.55 CHD7 DPH1 FOXC1 FOXF1 FOXQ1
3 embryo MP:0005380 9.35 CHD7 DPH1 FOXC1 FOXF1 FOXQ1
4 respiratory system MP:0005388 9.02 CHD7 DPH1 FOXC1 FOXF1 FOXQ1

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

MalaCards organs/tissues related to Ritscher-Schinzel Syndrome:

41
Bone

Publications for Ritscher-Schinzel Syndrome

Articles related to Ritscher-Schinzel Syndrome:

(show all 31)
# 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
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. ( 24916641 )
2015
5
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. ( 25880334 )
2015
6
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. ( 24065355 )
2013
7
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. ( 23072186 )
2012
8
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome. ( 21337688 )
2011
9
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. ( 21567916 )
2011
10
3C syndrome. ( 19504608 )
2010
11
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. ( 18957854 )
2008
12
3C syndrome with cryptorchidism and posterior embryotoxon. ( 15770133 )
2005
13
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. ( 16155425 )
2005
14
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. ( 15704124 )
2005
15
Severe feeding difficulties in 3C syndrome. ( 15770134 )
2005
16
Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient. ( 12605442 )
2003
17
Ritscher-Schinzel or 3C syndrome, with heterochromatic iris. ( 14521535 )
2003
18
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. ( 11484200 )
2001
19
The 3C syndrome: evolution of the phenotype and growth hormone deficiency. ( 10528249 )
1999
20
Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations? ( 10532184 )
1999
21
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. ( 9475602 )
1998
22
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. ( 9021015 )
1997
23
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. ( 8957516 )
1996
24
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. ( 7604842 )
1995
25
First report of glaucoma as a feature of the 3C syndrome. ( 7606323 )
1995
26
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. ( 8157023 )
1994
27
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. ( 9435781 )
1993
28
'New' 3C syndrome. ( 8224559 )
1993
29
An additional patient with the 3C syndrome. ( 1606716 )
1992
30
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). ( 2650935 )
1989
31
3C syndrome: another case. ( 2591075 )
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 9.46 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
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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