Ritscher-Schinzel Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060572

OMIM ⁵⁶ 300963

OMIM Phenotypic Series ⁵⁶ PS220210

MeSH ⁴³ D003616 D006344 D019465

MedGen ⁴¹ C4225419 CN233320

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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.

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Related Diseases for Ritscher-Schinzel Syndrome 2

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1

Ritscher-Schinzel Syndrome 2

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Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 2

Human phenotypes related to Ritscher-Schinzel Syndrome 2:

³¹ (show all 25)

#	Description	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

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Drugs & Therapeutics for Ritscher-Schinzel Syndrome 2

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

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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

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Anatomical Context for Ritscher-Schinzel Syndrome 2

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

⁴⁰

Brain, Heart, Tongue

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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	Kolanczyk M...Horn D	24916641	2015
2	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. ⁶ ⁵⁶	Voineagu I...Geschwind D	21826058	2012
3	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. ⁵⁶ ⁶	Tarpey PS...Stratton MR	19377476	2009

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Genes for Ritscher-Schinzel Syndrome 2

Genes related to Ritscher-Schinzel Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CCDC22	Coiled-Coil Domain Containing 22	Protein Coding	1318.29	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21826058 24916641 19377476

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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

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Expression for Ritscher-Schinzel Syndrome 2

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

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Pathways for Ritscher-Schinzel Syndrome 2

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GO Terms for Ritscher-Schinzel Syndrome 2

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Ritscher-Schinzel Syndrome 2 (RTSC2)

Aliases & Classifications for Ritscher-Schinzel Syndrome 2

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ritscher-Schinzel Syndrome 2

Related Diseases for Ritscher-Schinzel Syndrome 2

Diseases in the Ritscher-Schinzel Syndrome family:

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 2

Human phenotypes related to Ritscher-Schinzel Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 2

Genetic Tests for Ritscher-Schinzel Syndrome 2

Genetic tests related to Ritscher-Schinzel Syndrome 2:

Anatomical Context for Ritscher-Schinzel Syndrome 2

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

Publications for Ritscher-Schinzel Syndrome 2

Articles related to Ritscher-Schinzel Syndrome 2:

Genes for Ritscher-Schinzel Syndrome 2

Genes related to Ritscher-Schinzel Syndrome 2 (1 elite genes):

Variations for Ritscher-Schinzel Syndrome 2

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:

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

Expression for Ritscher-Schinzel Syndrome 2

Pathways for Ritscher-Schinzel Syndrome 2

GO Terms for Ritscher-Schinzel Syndrome 2

Sources for Ritscher-Schinzel Syndrome 2