MCID: RTS002
MIFTS: 21

Ritscher-Schinzel Syndrome 2

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

Aliases & Classifications for Ritscher-Schinzel Syndrome 2

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 2:

Name: Ritscher-Schinzel Syndrome 2 57 12 75 29 6
Rtsc2 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated families have been reported (last curated november 2015)
variable features


HPO:

32
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)

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 cryptorchidism and macrocephaly

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures

Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Face:
broad forehead
short philtrum

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

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Neck:
broad neck

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

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

Muscle Soft Tissue:
hypotonia

Growth Other:
growth delay, postnatal

Skeletal Skull:
large anterior fontanelles


Clinical features from OMIM:

300963

Human phenotypes related to Ritscher-Schinzel Syndrome 2:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 macrocephaly 32 HP:0000256
3 hypertelorism 32 HP:0000316
4 short philtrum 32 HP:0000322
5 broad forehead 32 HP:0000337
6 broad neck 32 HP:0000475
7 upslanted palpebral fissure 32 HP:0000582
8 syndactyly 32 HP:0001159
9 global developmental delay 32 HP:0001263
10 generalized hypotonia 32 HP:0001290
11 dandy-walker malformation 32 HP:0001305
12 cerebellar hypoplasia 32 HP:0001321
13 ventricular septal defect 32 HP:0001629
14 atrial septal defect 32 HP:0001631
15 patent ductus arteriosus 32 HP:0001643
16 overlapping toe 32 HP:0001845
17 low posterior hairline 32 HP:0002162
18 poor speech 32 HP:0002465
19 scoliosis 32 HP:0002650
20 short distal phalanx of finger 32 HP:0009882
21 broad hallux 32 HP:0010055
22 protruding tongue 32 HP:0010808
23 camptodactyly 32 HP:0012385
24 clinodactyly 32 HP:0030084

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:

41
Brain, Heart, Tongue

Publications for Ritscher-Schinzel Syndrome 2

Variations for Ritscher-Schinzel Syndrome 2

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

75
# Symbol AA change Variation ID SNP ID
1 CCDC22 p.Thr17Ala VAR_065912 rs863225428
2 CCDC22 p.Tyr557Cys VAR_075063 rs863225429

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC22 NM_014008.4(CCDC22): c.49A> G (p.Thr17Ala) single nucleotide variant Pathogenic rs863225428 GRCh38 Chromosome X, 49235685: 49235685
2 CCDC22 NM_014008.4(CCDC22): c.49A> G (p.Thr17Ala) single nucleotide variant Pathogenic rs863225428 GRCh37 Chromosome X, 49092145: 49092145
3 CCDC22 NM_014008.4(CCDC22): c.1670A> G (p.Tyr557Cys) single nucleotide variant Pathogenic rs863225429 GRCh37 Chromosome X, 49106004: 49106004
4 CCDC22 NM_014008.4(CCDC22): c.1670A> G (p.Tyr557Cys) single nucleotide variant Pathogenic rs863225429 GRCh38 Chromosome X, 49249543: 49249543

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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