RTSC2
MCID: RTS002
MIFTS: 24

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 56 12 73 29 6
Rtsc2 56 73

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Ritscher-Schinzel Syndrome 2, is also known as rtsc2. An important gene associated with Ritscher-Schinzel Syndrome 2 is CCDC22 (Coiled-Coil Domain Containing 22). Affiliated tissues include brain, heart and tongue, and related phenotypes are macrocephaly and hypertelorism

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

UniProtKB/Swiss-Prot : 73 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

Diseases in the Ritscher-Schinzel Syndrome family:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures

Skeletal Spine:
scoliosis

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Mouth:
protruding tongue

Skeletal Feet:
broad halluces
overriding toes

Head And Neck Head:
large head circumference

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

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
short philtrum
broad forehead

Head And Neck Neck:
broad neck

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

Muscle Soft Tissue:
hypotonia

Growth Other:
growth delay, postnatal

Skeletal Skull:
large anterior fontanelles

Clinical features from OMIM:

300963

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
Brain, Heart, 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. 56 6
24916641 2015
2
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 56 6
21826058 2012
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 56 6
19377476 2009

Variations for Ritscher-Schinzel Syndrome 2

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC22 NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)SNV Pathogenic 218105 rs863225428 X:49092145-49092145 X:49235685-49235685
2 CCDC22 NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)SNV Pathogenic 218106 rs863225429 X:49106004-49106004 X:49249543-49249543
3 CCDC22 NM_014008.5(CCDC22):c.197G>A (p.Arg66His)SNV Uncertain significance 638386 X:49093699-49093699 X:49237232-49237232

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

73
# 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

Sources for Ritscher-Schinzel Syndrome 2

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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