MCID: RTS001
MIFTS: 28

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 43 71
Craniocerebellocardiac Dysplasia 12
Ccc Dysplasia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060565
MeSH 43 C535313
UMLS 71 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 WASHC5 (WASH Complex Subunit 5), and among its related pathways/superpathways are Endocytosis and WNT ligand biogenesis and trafficking. Affiliated tissues include heart and bone, and related phenotype is embryo.

Related Diseases for Ritscher-Schinzel Syndrome

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2

Diseases related to Ritscher-Schinzel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 34.7 WASHC5 DPYSL5 CCDC22
2 ritscher-schinzel syndrome 2 13.0
3 ulnar-mammary syndrome 10.9
4 hypertelorism 10.5
5 alacrima, achalasia, and mental retardation syndrome 10.5
6 cleft palate, isolated 10.3
7 cleidocranial dysplasia 10.3
8 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
9 hypercholesterolemia, familial, 1 10.3
10 dandy-walker syndrome 10.3
11 megalocornea 10.3
12 cree mental retardation syndrome 10.3
13 pulmonary hypertension 10.3
14 autosomal recessive disease 10.3
15 sleep apnea 10.3
16 clubfoot 10.3
17 heart septal defect 10.3
18 cleidocranial dysplasia spectrum disorder 10.3
19 hypotonia 10.3
20 megalencephaly 10.3
21 coloboma of macula 10.1
22 atrial heart septal defect 10.1
23 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 VPS35L CCDC93
24 patent ductus arteriosus 1 10.0
25 ptosis 10.0
26 hydrocephalus 10.0
27 ventricular septal defect 10.0
28 chromosome 2q35 duplication syndrome 9.8
29 tetralogy of fallot 9.8
30 renal hypodysplasia/aplasia 1 9.8
31 joubert syndrome 1 9.8
32 charge syndrome 9.8
33 cryptorchidism, unilateral or bilateral 9.8
34 duodenal atresia 9.8
35 pulmonic stenosis 9.8
36 choanal atresia, posterior 9.8
37 intraocular pressure quantitative trait locus 9.8
38 stevenson-carey syndrome 9.8
39 chromosome 6pter-p24 deletion syndrome 9.8
40 developmental delay with short stature, dysmorphic facial features, and sparse hair 9.8
41 hypospadias 9.8
42 double outlet right ventricle 9.8
43 cleft lip 9.8
44 alopecia 9.8
45 cerebellar hypoplasia 9.8
46 growth hormone deficiency 9.8
47 cerebellar malformation 9.8
48 spastic paraplegia 8, autosomal dominant 9.6 WASHC5 WASHC4 WASHC3 WASHC1
49 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5 FOXC1 COMMD9
50 aniridia 1 9.4 FOXC1 COMMD9

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.1 COMMD1 COMMD9 FOXC1 VPS26A WASHC1 WASHC4

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:

40
Heart, Bone

Publications for Ritscher-Schinzel Syndrome

Articles related to Ritscher-Schinzel Syndrome:

(show all 45)
# Title Authors PMID Year
1
Ritscher-Schinzel Syndrome 61
31971710 2020
2
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
3
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2019
4
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. 61
30896870 2019
5
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61
28555453 2017
6
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. 61
27832265 2017
7
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. 61
26220823 2015
8
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
24916641 2015
9
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
25880334 2015
10
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. 61
25712599 2015
11
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. 61
25434475 2015
12
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 61
24065355 2013
13
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. 61
24255872 2013
14
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. 61
23072186 2012
15
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. 61
21567916 2011
16
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome. 61
21337688 2011
17
[Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case]. 61
20446611 2010
18
3C syndrome. 61
19504608 2010
19
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. 61
18957854 2008
20
The 6p subtelomere deletion syndrome. 61
17918735 2007
21
Segregation ratio in cranio-cerebello-cardiac syndrome. 61
16736035 2006
22
Infantile glaucoma associated with cranio-cerebello-cardiac syndrome. 61
16915906 2006
23
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. 61
16155425 2005
24
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 61
15704124 2005
25
3C syndrome with cryptorchidism and posterior embryotoxon. 61
15770133 2005
26
Severe feeding difficulties in 3C syndrome. 61
15770134 2005
27
Ritscher-Schinzel or 3C syndrome, with heterochromatic iris. 61
14521535 2003
28
Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient. 61
12605442 2003
29
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. 61
11484200 2001
30
[Ritscher-Schinzel syndrome]. 61
11528910 2001
31
[Cranio-cerebello-cardiac (3C) syndrome]. 61
11462539 2001
32
The 3C syndrome: evolution of the phenotype and growth hormone deficiency. 61
10528249 1999
33
Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations? 61
10532184 1999
34
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. 61
9475602 1998
35
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. 61
9021015 1997
36
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. 61
8957516 1996
37
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. 61
8870617 1996
38
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. 61
7604842 1995
39
First report of glaucoma as a feature of the 3C syndrome. 61
7606323 1995
40
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. 61
8157023 1994
41
'New' 3C syndrome. 61
8224559 1993
42
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. 61
9435781 1993
43
An additional patient with the 3C syndrome. 61
1606716 1992
44
3C syndrome: another case. 61
2591075 1989
45
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). 61
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

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

# Super pathways Score Top Affiliating Genes
1 11.56 WASHC5 WASHC4 WASHC3 WASHC2A WASHC1 VPS29
2
Show member pathways
10.7 VPS29 VPS26A

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 cytosol GO:0005829 10.02 WASHC5 WASHC2A WASHC1 VPS29 VPS26A FOXC1
2 early endosome GO:0005769 9.61 WASHC5 WASHC4 WASHC3 WASHC2A WASHC1 VPS29
3 endosome membrane GO:0010008 9.58 VPS29 VPS26A COMMD1
4 WASH complex GO:0071203 9.55 WASHC5 WASHC4 WASHC3 WASHC2A WASHC1
5 retromer complex GO:0030904 9.37 VPS29 VPS26A
6 endosome GO:0005768 9.36 WASHC5 WASHC4 WASHC3 WASHC2A WASHC1 VPS35L
7 retromer, cargo-selective complex GO:0030906 9.26 VPS29 VPS26A

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.7 WASHC5 WASHC4 WASHC3 WASHC2A WASHC1 VPS35L
2 retrograde transport, endosome to Golgi GO:0042147 9.62 WASHC2A WASHC1 VPS29 VPS26A
3 endocytic recycling GO:0032456 9.56 VPS35L VPS29 CCDC93 CCDC22
4 endosomal transport GO:0016197 9.54 WASHC5 WASHC4 WASHC1
5 Golgi to plasma membrane transport GO:0006893 9.46 VPS35L COMMD1 CCDC93 CCDC22
6 retrograde transport, endosome to plasma membrane GO:1990126 9.1 WASHC1 VPS35L VPS29 VPS26A CCDC93 CCDC22

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 WASHC5 WASHC3 WASHC2A WASHC1 VPS35L VPS29

Sources for Ritscher-Schinzel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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