RTSC1
MCID: RTS001
MIFTS: 42

Ritscher-Schinzel Syndrome (RTSC1) malady

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

Aliases & Classifications for Ritscher-Schinzel Syndrome

Aliases & Descriptions for Ritscher-Schinzel Syndrome:

Name: Ritscher-Schinzel Syndrome 54 12 56 14
3c Syndrome 12 50 56 66 42 69
Craniocerebellocardiac Dysplasia 12 50 56 66
Dandy-Walker-Like Malformation with Atrioventricular Septal Defect 66 29
Dandy-Walker Like Malformation with Atrioventricular Septal Defect 50
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome 50
Dandy-Walker-Like Malformation with Asd 50
Cranio-Cerebello-Cardiac Dysplasia 50
Ritscher-Schinzel Syndrome 1 66
Ritscher Schinzel Syndrome 50
Ccc Dysplasia 12
Rtsc1 66

Characteristics:

Orphanet epidemiological data:

56
3c syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,infantile;

HPO:

32
ritscher-schinzel syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 220210
Disease Ontology 12 DOID:0060565
ICD10 33 Q87.8
Orphanet 56 ORPHA7
MESH via Orphanet 43 C535313
UMLS via Orphanet 70 C0796137
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0796137
UMLS 69 C0796137

Summaries for Ritscher-Schinzel Syndrome

OMIM : 54 The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by... (220210) more...

MalaCards based summary : Ritscher-Schinzel Syndrome, also known as 3c syndrome, is related to ritscher-schinzel syndrome 2 and ritscher-schinzel syndrome 1, and has symptoms including macrocephaly, hypertelorism and low-set ears. An important gene associated with Ritscher-Schinzel Syndrome is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include heart, brain and bone, and related phenotypes are craniofacial and digestive/alimentary

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.

UniProtKB/Swiss-Prot : 66 Ritscher-Schinzel syndrome 1: A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.

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

Symptoms by clinical synopsis from OMIM:

220210

Clinical features from OMIM:

220210

Human phenotypes related to Ritscher-Schinzel Syndrome:

56 32 (show top 50) (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Frequent (79-30%) HP:0000256
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 low-set ears 56 32 Frequent (79-30%) HP:0000369
4 short neck 56 32 Occasional (29-5%) HP:0000470
5 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
6 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
7 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
8 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
9 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
10 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
11 scoliosis 56 32 Frequent (79-30%) HP:0002650
12 kyphosis 56 32 Frequent (79-30%) HP:0002808
13 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
14 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
15 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
16 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
17 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
18 short nose 56 32 Frequent (79-30%) HP:0003196
19 optic atrophy 56 32 Occasional (29-5%) HP:0000648
20 short stature 56 32 Frequent (79-30%) HP:0004322
21 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
22 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
23 cleft palate 56 32 Frequent (79-30%) HP:0000175
24 micrognathia 56 32 Occasional (29-5%) HP:0000347
25 prominent occiput 56 32 Frequent (79-30%) HP:0000269
26 abnormality of the hip bone 56 32 Occasional (29-5%) HP:0003272
27 aplasia/hypoplasia of the nipples 56 32 Occasional (29-5%) HP:0006709
28 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
29 postnatal growth retardation 56 32 Occasional (29-5%) HP:0008897
30 hypoplastic left heart 56 32 Frequent (79-30%) HP:0004383
31 abnormality of neuronal migration 56 32 Occasional (29-5%) HP:0002269
32 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
33 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
34 hypospadias 56 32 Occasional (29-5%) HP:0000047
35 glaucoma 56 32 Occasional (29-5%) HP:0000501
36 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
37 abnormality of the fontanelles or cranial sutures 56 32 Very frequent (99-80%) HP:0000235
38 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
39 anal atresia 56 32 Occasional (29-5%) HP:0002023
40 tetralogy of fallot 56 32 Frequent (79-30%) HP:0001636
41 hand polydactyly 56 32 Occasional (29-5%) HP:0001161
42 ventricular septal defect 56 32 Frequent (79-30%) HP:0001629
43 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
44 abnormality of the mitral valve 56 32 Frequent (79-30%) HP:0001633
45 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
46 pulmonic stenosis 56 32 Frequent (79-30%) HP:0001642
47 iris coloboma 56 32 Occasional (29-5%) HP:0000612
48 hemivertebrae 56 32 Occasional (29-5%) HP:0002937
49 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
50 hydronephrosis 56 32 Occasional (29-5%) HP:0000126

MGI Mouse Phenotypes related to Ritscher-Schinzel Syndrome:

44
id 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 FOXF1 FOXQ1 CHD7 DPH1 FOXC1
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

Genetic tests related to Ritscher-Schinzel Syndrome:

id Genetic test Affiliating Genes
1 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 29

Anatomical Context for Ritscher-Schinzel Syndrome

MalaCards organs/tissues related to Ritscher-Schinzel Syndrome:

39
Heart, Brain, Bone, Skin, Cerebellum

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

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WASHC5 NM_014846.3(WASHC5): c.3335+2T> A single nucleotide variant Pathogenic rs398123007 GRCh37 Chromosome 8, 126044481: 126044481

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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