RTSC1
MCID: RTS003
MIFTS: 43

Ritscher-Schinzel Syndrome 1 (RTSC1)

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

Aliases & Classifications for Ritscher-Schinzel Syndrome 1

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 1:

Name: Ritscher-Schinzel Syndrome 1 57 12 72 29 6
3c Syndrome 57 73 20 58 72 36 70
Craniocerebellocardiac Dysplasia 57 20 58 72
Dandy-Walker Like Malformation with Atrioventricular Septal Defect 20 6 39
Dandy-Walker-Like Malformation with Atrioventricular Septal Defect 57 72
Rtsc1 57 72
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome 20
Dandy-Walker-Like Malformation with Asd 20
Cranio-Cerebello-Cardiac Dysplasia 20
Ritscher-Schinzel Syndrome 58
Ritscher Schinzel Syndrome 20
3c 17

Characteristics:

Orphanet epidemiological data:

58
3c syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ritscher-schinzel syndrome 1:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Ritscher-Schinzel Syndrome 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 7 Definition Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized 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 (see these terms). Epidemiology To date < 50 cases have been described. The syndrome appears to be panethnic. Clinical description 3C syndrome is a congenital disorder characterized by distinctive craniofacial features including, in decreasing frequency, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, prominent occiput, prominent forehead, cleft palate, micrognathia, ocular coloboma. Additional craniofacial features encompass nevus flammeus (on forehead), low posterior hairline, sparse scalp hair, eyebrows and eyelashes, open mouth with protruding tongue, and short neck. In 80% of cases, cerebellar anomalies are present and include primarily Dandy-Walker malformation or Dandy-Walker variant, cerebellar vermis hypoplasia and enlargement of cisterna magma. Affected individuals have gross motor and speech delay and intellectual disability. The cardiovascular anomalies include atrial and ventricular septal defects, patent arterial duct, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart syndrome (see these terms), aortic or pulmonary stenosis, and other valvular anomalies. Postnatal short stature is noted in most patients, and growth hormone deficiency has been reported in two patients. Additional anomalies, noted in >10% of patients, include feeding difficulties, single umbilical artery, small hands with single transverse crease, camptodactyly, equinovarus deformity, hydronephrosis, shallow scrotum, undescended testis, cryptorchidism, micropenis, hypospadias, nail hypoplasia, hearing loss, malrotation of the gut. Skeletal defects may be present with rib and vertebral anomalies (hemivertebrae). Rarely observed features include ocular (congenital glaucoma, optic nerve atrophy with eyelid ptosis, heteochromatic iris, posterior embryotoxon), renal (multicystic dysplastic kidney, horseshoe kidneys, unilateral renal agenesis) and anal (anal atresia, anteriorly placed anus malformations) anomalies. Single occurrences of renal hypoplasia, nipple hypoplasia, penile hypoplasia, unilateral adrenal aplasia, immunodeficiency have also been reported. Etiology The exact etiology is still unknown but mutations in KIAA0196 (8q24.13; coding for strumpellin) have been identified in a First Nations cohort and these mutations may be involved in the pathophysiology of 3C syndrome. Diagnostic methods The diagnostic criteria for 3C syndrome include congenital heart malformation(s) other than isolated patent arterial duct; Dandy-Walker malformation, cerebellar vermis hypoplasia, or enlarged cisterna; and cleft palate, ocular coloboma or four of the following: prominent occiput, prominent forehead, hypertelorism, micrognathia, downslanting palpebral fissures, depressed nasal bridge, low-set ears. Differential diagnosis Differential diagnosis includes Joubert syndrome, Ellis Van Creveld syndrome, Cornelia de Lange syndrome, distal monosomy 6p (see these terms) and Dandy Walker malformation. Antenatal diagnosis Prenatal diagnosis may be suspected after an ultrasound examination revealing characteristic major structural anomalies of 3C syndrome. Prenatal testing is available for families in which the disease-causing mutations have been previously identified. Genetic counseling Sporadic and familial cases have been reported. Transmission is autosomal recessive. Phenotypic variability exists between siblings. Management and treatment Management is mainly symptomatic and multidisciplinary approaches including educational programs, physical, occupational, and speech therapy may help to improve hypotonia and reduce motor developmental delay. Cardiac malformation requires specific care, often surgery. Prognosis Prognosis is determined by the cardiovascular malformation. Motor delay is common and associated with hypotonia secondary to cerebellar anomalies.

MalaCards based summary : Ritscher-Schinzel Syndrome 1, also known as 3c syndrome, is related to ritscher-schinzel syndrome and spastic paraplegia 8. An important gene associated with Ritscher-Schinzel Syndrome 1 is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include heart, testis and tongue, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : 12 A Ritscher-Schinzel syndrome that has material basis in homozygous mutation in the KIAA0196 gene on chromosome 8q24.

OMIM® : 57 The 3C syndrome, also known as Ritscher-Schinzel syndrome, is 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 delayed psychomotor development (summary by Leonardi et al., 2001; Elliott et al., 2013). (220210) (Updated 05-Apr-2021)

KEGG : 36 The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis, and other valvular anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia, and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, and micrognathia. The phenotypic manifestations can vary and cardiac and cerebellar manifestations are not always present. A recent study identified homozygous sequence variants affecting the KIAA0196 gene, which encodes the WASH (Wiskott-Aldrich Syndrome Protein and SCAR Homolog) complex protein strumpellin as causal to a form of 3C syndrome. Another study showed that a missense variant in CCDC22 is associated with a form of X-linked intellectual disability with features of 3C syndrome.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial... more...

Related Diseases for Ritscher-Schinzel Syndrome 1

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2
Ritscher-Schinzel Syndrome 3

Diseases related to Ritscher-Schinzel Syndrome 1 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 30.2 WASHC5-AS1 WASHC5 DPYSL5 CCDC22
2 spastic paraplegia 8 29.1 WASHC5-AS1 WASHC5
3 ritscher-schinzel syndrome 2 10.9
4 ritscher-schinzel syndrome 3 10.9
5 ulnar-mammary syndrome 10.3
6 cleft palate, isolated 10.2
7 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
8 hypercholesterolemia, familial, 1 10.1
9 cree mental retardation syndrome 10.1
10 pulmonary hypertension 10.1
11 sleep apnea 10.1
12 clubfoot 10.1
13 heart septal defect 10.1
14 coloboma of macula 10.0
15 hypertelorism 10.0
16 alacrima, achalasia, and mental retardation syndrome 10.0
17 atrial heart septal defect 10.0
18 hypotonia 10.0
19 patent ductus arteriosus 1 10.0
20 ptosis 10.0
21 hydrocephalus 10.0
22 ventricular septal defect 10.0
23 cleidocranial dysplasia 9.8
24 chromosome 2q35 duplication syndrome 9.8
25 tetralogy of fallot 9.8
26 renal hypodysplasia/aplasia 1 9.8
27 joubert syndrome 1 9.8
28 charge syndrome 9.8
29 cryptorchidism, unilateral or bilateral 9.8
30 dandy-walker syndrome 9.8
31 duodenal atresia 9.8
32 megalocornea 9.8
33 pulmonic stenosis 9.8
34 spastic paraplegia 8, autosomal dominant 9.8
35 choanal atresia, posterior 9.8
36 intraocular pressure quantitative trait locus 9.8
37 stevenson-carey syndrome 9.8
38 chromosome 6pter-p24 deletion syndrome 9.8
39 developmental delay with short stature, dysmorphic facial features, and sparse hair 9.8
40 autosomal recessive disease 9.8
41 syndromic x-linked intellectual disability 9.8
42 cerebellar hypoplasia 9.8
43 hypospadias 9.8
44 double outlet right ventricle 9.8
45 cleft lip 9.8
46 alopecia 9.8
47 cleidocranial dysplasia spectrum disorder 9.8
48 growth hormone deficiency 9.8
49 megalencephaly 9.8
50 cerebellar malformation 9.8

Graphical network of the top 20 diseases related to Ritscher-Schinzel Syndrome 1:



Diseases related to Ritscher-Schinzel Syndrome 1

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 1

Human phenotypes related to Ritscher-Schinzel Syndrome 1:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 abnormality of the fontanelles or cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000235
8 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
9 hypotonia 31 hallmark (90%) HP:0001252
10 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
13 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
14 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
15 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
16 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
17 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
18 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
19 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
20 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
21 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
22 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
23 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
24 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
25 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
26 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
27 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
28 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
29 abnormal mitral valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001633
30 abnormal tricuspid valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001702
31 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
32 aortic valve stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001650
33 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
34 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
35 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
36 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
37 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
38 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
39 aplasia/hypoplasia of the nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0006709
40 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
41 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
42 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
43 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
44 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
45 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
46 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
47 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
48 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
49 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
50 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar vermis hypoplasia
hypotonia
delayed psychomotor development
more
Head And Neck Eyes:
hypertelorism
coloboma
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate

Head And Neck Face:
micrognathia
tall, broad forehead

Skin Nails Hair Hair:
low posterior hairline

Abdomen Gastrointestinal:
anal atresia

Skeletal Spine:
hemivertebrae

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Skeletal Hands:
syndactyly

Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
brachycephaly
prominent occiput

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears

Cardiovascular Heart:
atrial septal defect
hypoplastic left heart
tetralogy of fallot
ventricular septal defect
pulmonic stenosis
more
Genitourinary Kidneys:
hydronephrosis

Genitourinary External Genitalia Male:
hypospadias

Endocrine Features:
adrenal hypoplasia
growth hormone deficiency

Chest Ribs Sternum Clavicles And Scapulae:
absent ribs

Clinical features from OMIM®:

220210 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 1

Search Clinical Trials , NIH Clinical Center for Ritscher-Schinzel Syndrome 1

Genetic Tests for Ritscher-Schinzel Syndrome 1

Genetic tests related to Ritscher-Schinzel Syndrome 1:

# Genetic test Affiliating Genes
1 Ritscher-Schinzel Syndrome 1 29 WASHC5

Anatomical Context for Ritscher-Schinzel Syndrome 1

MalaCards organs/tissues related to Ritscher-Schinzel Syndrome 1:

40
Heart, Testis, Tongue, Bone, Cerebellum

Publications for Ritscher-Schinzel Syndrome 1

Articles related to Ritscher-Schinzel Syndrome 1:

(show all 49)
# Title Authors PMID Year
1
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 57 6 61
24065355 2013
2
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. 6 57
7604842 1995
3
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 6 61
24916641 2015
4
3C syndrome. 57 61
19504608 2010
5
Segregation ratio in cranio-cerebello-cardiac syndrome. 61 57
16736035 2006
6
Severe feeding difficulties in 3C syndrome. 57 61
15770134 2005
7
3C syndrome with cryptorchidism and posterior embryotoxon. 57 61
15770133 2005
8
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 61 57
15704124 2005
9
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. 57 61
11484200 2001
10
The 3C syndrome: evolution of the phenotype and growth hormone deficiency. 57 61
10528249 1999
11
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. 61 57
9475602 1998
12
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. 57 61
9021015 1997
13
First report of glaucoma as a feature of the 3C syndrome. 61 57
7606323 1995
14
An additional patient with the 3C syndrome. 57 61
1606716 1992
15
3C syndrome: another case. 61 57
2591075 1989
16
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). 57 61
2650935 1989
17
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. 6
24824269 2014
18
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 6
21826058 2012
19
New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies. 57
20602491 2010
20
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009
21
A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. 57
17764080 2007
22
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 6
17160902 2007
23
Liability, thresholds, malformations, and syndromes. 57
8957517 1996
24
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. 57
8957516 1996
25
Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. 57
7573166 1995
26
3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome. 57
7977465 1994
27
Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. 57
2590300 1989
28
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? 57
3812597 1987
29
Ritscher-Schinzel Syndrome 61
31971710 2020
30
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. 61
30896870 2019
31
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61
28555453 2017
32
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. 61
27832265 2017
33
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
34
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
25880334 2015
35
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. 61
23072186 2012
36
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. 61
21567916 2011
37
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome. 61
21337688 2011
38
[Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case]. 61
20446611 2010
39
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. 61
18957854 2008
40
The 6p subtelomere deletion syndrome. 61
17918735 2007
41
Infantile glaucoma associated with cranio-cerebello-cardiac syndrome. 61
16915906 2006
42
Ritscher-Schinzel or 3C syndrome, with heterochromatic iris. 61
14521535 2003
43
Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient. 61
12605442 2003
44
[Cranio-cerebello-cardiac (3C) syndrome]. 61
11462539 2001
45
Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations? 61
10532184 1999
46
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. 61
8870617 1996
47
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. 61
8157023 1994
48
'New' 3C syndrome. 61
8224559 1993
49
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. 61
9435781 1993

Variations for Ritscher-Schinzel Syndrome 1

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 1:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WASHC5 NM_014846.4(WASHC5):c.3335+2T>A SNV Pathogenic 92129 rs398123007 GRCh37: 8:126044481-126044481
GRCh38: 8:125032239-125032239
2 CCDC22 NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) SNV Pathogenic 218106 rs863225429 GRCh37: X:49106004-49106004
GRCh38: X:49249543-49249543
3 CCDC22 NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) SNV Pathogenic 218105 rs863225428 GRCh37: X:49092145-49092145
GRCh38: X:49235685-49235685
4 CCDC22 NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) SNV Pathogenic 218106 rs863225429 GRCh37: X:49106004-49106004
GRCh38: X:49249543-49249543
5 CCDC22 NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) SNV Pathogenic 218105 rs863225428 GRCh37: X:49092145-49092145
GRCh38: X:49235685-49235685
6 WASHC5 NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) SNV Pathogenic 1161 rs80338867 GRCh37: 8:126069059-126069059
GRCh38: 8:125056817-125056817
7 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) SNV Pathogenic 463137 rs1554593901 GRCh37: 8:126069902-126069902
GRCh38: 8:125057660-125057660
8 WASHC5 NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) Microsatellite Pathogenic 573798 rs765926045 GRCh37: 8:126051131-126051132
GRCh38: 8:125038889-125038890
9 WASHC5 NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) SNV Pathogenic 576266 rs1462319941 GRCh37: 8:126093910-126093910
GRCh38: 8:125081668-125081668
10 WASHC5 NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) SNV Pathogenic 583269 rs754463353 GRCh37: 8:126091009-126091009
GRCh38: 8:125078767-125078767
11 WASHC5 NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) Duplication Pathogenic 570249 rs1563633906 GRCh37: 8:126090986-126090987
GRCh38: 8:125078744-125078745
12 WASHC5 NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) SNV Pathogenic 647373 rs1362286755 GRCh37: 8:126091165-126091165
GRCh38: 8:125078923-125078923
13 WASHC5 NM_014846.4(WASHC5):c.334dup (p.Tyr112fs) Duplication Pathogenic 1033301 GRCh37: 8:126094707-126094708
GRCh38: 8:125082465-125082466
14 WASHC5 NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) SNV Pathogenic 647373 rs1362286755 GRCh37: 8:126091165-126091165
GRCh38: 8:125078923-125078923
15 WASHC5 NM_014846.4(WASHC5):c.1151-2A>G SNV Likely pathogenic 570582 rs1563627853 GRCh37: 8:126079963-126079963
GRCh38: 8:125067721-125067721
16 WASHC5 NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) SNV Uncertain significance 573698 rs761801345 GRCh37: 8:126071481-126071481
GRCh38: 8:125059239-125059239
17 WASHC5 NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) SNV Uncertain significance 216683 rs140742485 GRCh37: 8:126059523-126059523
GRCh38: 8:125047281-125047281
18 WASHC5 NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) SNV Uncertain significance 935991 GRCh37: 8:126088719-126088719
GRCh38: 8:125076477-125076477
19 WASHC5 NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) SNV Uncertain significance 374553 rs144507279 GRCh37: 8:126059531-126059531
GRCh38: 8:125047289-125047289
20 WASHC5 NC_000008.11:g.(?_125024607)_(125044104_?)del Deletion Uncertain significance 831091 GRCh37: 8:126036849-126056346
GRCh38:
21 WASHC5 NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) SNV Uncertain significance 862787 GRCh37: 8:126059543-126059543
GRCh38: 8:125047301-125047301
22 WASHC5 NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) SNV Uncertain significance 933362 GRCh37: 8:126088591-126088591
GRCh38: 8:125076349-125076349
23 WASHC5 NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) SNV Uncertain significance 949761 GRCh37: 8:126088594-126088594
GRCh38: 8:125076352-125076352
24 WASHC5 NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) SNV Uncertain significance 951266 GRCh37: 8:126091066-126091066
GRCh38: 8:125078824-125078824
25 WASHC5 NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) SNV Uncertain significance 952723 GRCh37: 8:126091002-126091002
GRCh38: 8:125078760-125078760
26 WASHC5 NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) SNV Uncertain significance 970935 GRCh37: 8:126040929-126040929
GRCh38: 8:125028687-125028687
27 WASHC5 NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) SNV Uncertain significance 410079 rs1060502725 GRCh37: 8:126067844-126067844
GRCh38: 8:125055602-125055602
28 WASHC5 NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) SNV Uncertain significance 583273 rs767608029 GRCh37: 8:126051109-126051109
GRCh38: 8:125038867-125038867
29 WASHC5 NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) SNV Uncertain significance 646014 rs751591590 GRCh37: 8:126095975-126095975
GRCh38: 8:125083733-125083733
30 WASHC5 NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) SNV Uncertain significance 655495 rs766713240 GRCh37: 8:126075875-126075875
GRCh38: 8:125063633-125063633
31 WASHC5 NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) SNV Uncertain significance 659325 rs762522662 GRCh37: 8:126044549-126044549
GRCh38: 8:125032307-125032307
32 WASHC5 NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) SNV Uncertain significance 662823 rs1586384678 GRCh37: 8:126091119-126091119
GRCh38: 8:125078877-125078877
33 WASHC5 NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) SNV Uncertain significance 578334 rs397515564 GRCh37: 8:126067843-126067843
GRCh38: 8:125055601-125055601
34 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2769C>T (p.Val923=) SNV Uncertain significance 581292 rs545318648 GRCh37: 8:126056235-126056235
GRCh38: 8:125043993-125043993
35 WASHC5 NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) SNV Uncertain significance 581704 rs1563636568 GRCh37: 8:126094629-126094629
GRCh38: 8:125082387-125082387
36 WASHC5 NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) SNV Uncertain significance 581894 rs763639768 GRCh37: 8:126068932-126068932
GRCh38: 8:125056690-125056690
37 WASHC5 NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) Microsatellite Uncertain significance 531992 rs1554593551 GRCh37: 8:126067835-126067837
GRCh38: 8:125055593-125055595
38 WASHC5 NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) SNV Uncertain significance 531993 rs753529606 GRCh37: 8:126087346-126087346
GRCh38: 8:125075104-125075104
39 WASHC5 NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) SNV Uncertain significance 463139 rs1554591077 GRCh37: 8:126051185-126051185
GRCh38: 8:125038943-125038943
40 CCDC22 NM_014008.5(CCDC22):c.197G>A (p.Arg66His) SNV Uncertain significance 638386 rs199545573 GRCh37: X:49093699-49093699
GRCh38: X:49237232-49237232
41 CCDC22 NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp) SNV Uncertain significance 975935 GRCh37: X:49106705-49106705
GRCh38: X:49250244-49250244
42 CCDC22 NM_014008.5(CCDC22):c.1636-6G>C SNV Uncertain significance 976070 GRCh37: X:49105964-49105964
GRCh38: X:49249503-49249503
43 WASHC5 NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) SNV Uncertain significance 982853 GRCh37: 8:126085412-126085412
GRCh38: 8:125073170-125073170
44 CCDC22 NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg) Indel Uncertain significance 995994 GRCh37: X:49099629-49099630
GRCh38: X:49243163-49243164
45 DPYSL5 NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) SNV Uncertain significance 632587 rs1558337060 GRCh37: 2:27121506-27121506
GRCh38: 2:26898638-26898638
46 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) SNV Uncertain significance 989076 GRCh37: 8:126056252-126056252
GRCh38: 8:125044010-125044010
47 WASHC5 NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) SNV Uncertain significance 240929 rs878854987 GRCh37: 8:126062868-126062868
GRCh38: 8:125050626-125050626
48 WASHC5 NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) SNV Uncertain significance 1046315 GRCh37: 8:126096019-126096019
GRCh38: 8:125083777-125083777
49 WASHC5 NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) SNV Uncertain significance 1030373 GRCh37: 8:126061370-126061370
GRCh38: 8:125049128-125049128
50 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) SNV Uncertain significance 1030375 GRCh37: 8:126056068-126056068
GRCh38: 8:125043826-125043826

Expression for Ritscher-Schinzel Syndrome 1

Search GEO for disease gene expression data for Ritscher-Schinzel Syndrome 1.

Pathways for Ritscher-Schinzel Syndrome 1

GO Terms for Ritscher-Schinzel Syndrome 1

Cellular components related to Ritscher-Schinzel Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.62 WASHC5 DPYSL5

Sources for Ritscher-Schinzel Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
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