RTSC2
MCID: RTS002
MIFTS: 36

Ritscher-Schinzel Syndrome 2 (RTSC2)

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

Aliases & Classifications for Ritscher-Schinzel Syndrome 2

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 2:

Name: Ritscher-Schinzel Syndrome 2 57 12 72 29 6 15
Rtsc2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
two unrelated families have been reported (last curated november 2015)
variable features

Inheritance:
x-linked recessive


HPO:

31
ritscher-schinzel syndrome 2:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Ritscher-Schinzel Syndrome 2

OMIM® : 57 Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). (300963) (Updated 05-Apr-2021)

MalaCards based summary : Ritscher-Schinzel Syndrome 2, also known as rtsc2, is related to ritscher-schinzel syndrome and pitt-hopkins-like syndrome 1. An important gene associated with Ritscher-Schinzel Syndrome 2 is CCDC22 (Coiled-Coil Domain Containing 22), and among its related pathways/superpathways are Signaling by Rho GTPases and Transmission across Chemical Synapses. Affiliated tissues include tongue, and related phenotypes are macrocephaly and scoliosis

Disease Ontology : 12 A Ritscher-Schinzel syndrome that has material basis in mutation in the CCDC22 gene on chromosome Xp11.

UniProtKB/Swiss-Prot : 72 Ritscher-Schinzel syndrome 2: A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities.

Related Diseases for Ritscher-Schinzel Syndrome 2

Graphical network of the top 20 diseases related to Ritscher-Schinzel Syndrome 2:



Diseases related to Ritscher-Schinzel Syndrome 2

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 2

Human phenotypes related to Ritscher-Schinzel Syndrome 2:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 scoliosis 31 HP:0002650
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 cryptorchidism 31 HP:0000028
6 growth delay 31 HP:0001510
7 broad neck 31 HP:0000475
8 low posterior hairline 31 HP:0002162
9 atrial septal defect 31 HP:0001631
10 upslanted palpebral fissure 31 HP:0000582
11 protruding tongue 31 HP:0010808
12 patent ductus arteriosus 31 HP:0001643
13 dandy-walker malformation 31 HP:0001305
14 short philtrum 31 HP:0000322
15 ventricular septal defect 31 HP:0001629
16 broad forehead 31 HP:0000337
17 short distal phalanx of finger 31 HP:0009882
18 cerebellar hypoplasia 31 HP:0001321
19 generalized hypotonia 31 HP:0001290
20 camptodactyly 31 HP:0012385
21 poor speech 31 HP:0002465
22 clinodactyly 31 HP:0030084
23 syndactyly 31 HP:0001159
24 overlapping toe 31 HP:0001845
25 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Mouth:
protruding tongue

Neurologic Central Nervous System:
dandy-walker malformation
cerebellar hypoplasia
poor speech
delayed psychomotor development

Skeletal Hands:
camptodactyly
clinodactyly
syndactyly
hypoplastic distal phalanges
distal digital anomalies

Skeletal Feet:
broad halluces
overriding toes

Head And Neck Head:
large head circumference

Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures

Head And Neck Neck:
broad neck

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
short philtrum
broad forehead

Muscle Soft Tissue:
hypotonia

Growth Other:
growth delay, postnatal

Skeletal Skull:
large anterior fontanelles

Clinical features from OMIM®:

300963 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Ritscher-Schinzel Syndrome 2

Genetic Tests for Ritscher-Schinzel Syndrome 2

Genetic tests related to Ritscher-Schinzel Syndrome 2:

# Genetic test Affiliating Genes
1 Ritscher-Schinzel Syndrome 2 29 CCDC22

Anatomical Context for Ritscher-Schinzel Syndrome 2

MalaCards organs/tissues related to Ritscher-Schinzel Syndrome 2:

40
Tongue

Publications for Ritscher-Schinzel Syndrome 2

Articles related to Ritscher-Schinzel Syndrome 2:

# Title Authors PMID Year
1
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 57 6
24916641 2015
2
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 6 57
21826058 2012
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 57 6
19377476 2009

Variations for Ritscher-Schinzel Syndrome 2

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC22 NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) SNV Pathogenic 218106 rs863225429 GRCh37: X:49106004-49106004
GRCh38: X:49249543-49249543
2 CCDC22 NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) SNV Pathogenic 218105 rs863225428 GRCh37: X:49092145-49092145
GRCh38: X:49235685-49235685
3 CCDC22 NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg) Indel Uncertain significance 995994 GRCh37: X:49099629-49099630
GRCh38: X:49243163-49243164
4 CCDC22 NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly) SNV Uncertain significance 871786 GRCh37: X:49105152-49105152
GRCh38: X:49248691-49248691
5 CCDC22 NM_014008.5(CCDC22):c.110C>T (p.Ala37Val) SNV Uncertain significance 1031225 GRCh37: X:49093612-49093612
GRCh38: X:49237145-49237145
6 CCDC22 NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val) SNV Uncertain significance 1031226 GRCh37: X:49105698-49105698
GRCh38: X:49249237-49249237
7 CCDC22 NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu) SNV Uncertain significance 1032585 GRCh37: X:49105107-49105107
GRCh38: X:49248646-49248646
8 CCDC22 NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln) SNV Uncertain significance 1032586 GRCh37: X:49099373-49099373
GRCh38: X:49242907-49242907
9 CCDC22 NM_014008.5(CCDC22):c.197G>A (p.Arg66His) SNV Uncertain significance 638386 rs199545573 GRCh37: X:49093699-49093699
GRCh38: X:49237232-49237232
10 CCDC22 NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp) SNV Uncertain significance 975935 GRCh37: X:49106705-49106705
GRCh38: X:49250244-49250244
11 CCDC22 NM_014008.5(CCDC22):c.1636-6G>C SNV Uncertain significance 976070 GRCh37: X:49105964-49105964
GRCh38: X:49249503-49249503

UniProtKB/Swiss-Prot genetic disease variations for Ritscher-Schinzel Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 CCDC22 p.Thr17Ala VAR_065912 rs863225428
2 CCDC22 p.Tyr557Cys VAR_075063 rs863225429

Expression for Ritscher-Schinzel Syndrome 2

Search GEO for disease gene expression data for Ritscher-Schinzel Syndrome 2.

Pathways for Ritscher-Schinzel Syndrome 2

GO Terms for Ritscher-Schinzel Syndrome 2

Cellular components related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.01 RHOQ PLEK MCF2 GPHN GAD2 CDC42
2 cell junction GO:0030054 9.72 NLGN4X NLGN2 GPHN GAD2 ARHGEF9
3 synapse GO:0045202 9.55 NLGN4X NLGN2 GPHN GAD2 ARHGEF9
4 postsynaptic membrane GO:0045211 9.54 NLGN4X NLGN2 GPHN
5 inhibitory synapse GO:0060077 9.26 NLGN2 GAD2
6 spanning component of membrane GO:0089717 8.96 NLGN4X NLGN2
7 symmetric, GABA-ergic, inhibitory synapse GO:0098983 8.62 NLGN4X NLGN2

Biological processes related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.65 NLGN4X NLGN2 GAD2
2 synapse organization GO:0050808 9.49 NLGN4X NLGN2
3 synaptic vesicle endocytosis GO:0048488 9.46 NLGN4X NLGN2
4 cortical actin cytoskeleton organization GO:0030866 9.43 RHOQ PLEK
5 positive regulation of filopodium assembly GO:0051491 9.4 RHOQ CDC42
6 cell projection assembly GO:0030031 9.37 RHOQ CDC42
7 neuron cell-cell adhesion GO:0007158 9.32 NLGN4X NLGN2
8 presynapse assembly GO:0099054 9.26 NLGN4X NLGN2
9 presynaptic membrane assembly GO:0097105 9.16 NLGN4X NLGN2
10 postsynaptic membrane assembly GO:0097104 8.96 NLGN4X NLGN2
11 regulation of small GTPase mediated signal transduction GO:0051056 8.92 RHOQ MCF2 CDC42 ARHGEF9

Molecular functions related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurexin family protein binding GO:0042043 8.96 NLGN4X NLGN2
2 GBD domain binding GO:0032427 8.62 RHOQ CDC42

Sources for Ritscher-Schinzel Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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