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 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶

Rtsc2 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

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

Inheritance:
x-linked recessive

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300963

Disease Ontology ¹² DOID:0060572

MedGen ⁴² C4225419 CN233320

MeSH ⁴⁴ D003616 D006344 D019465

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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 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 : 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.

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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

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

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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:

⁴¹

Brain, Heart, Tongue

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Publications for Ritscher-Schinzel Syndrome 2

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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	1328.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24916641 19377476 21826058

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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

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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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RTSC2 MCID: RTS002 MIFTS: 21	Ritscher-Schinzel Syndrome 2 (RTSC2) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Ritscher-Schinzel Syndrome 2:

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

Genes for Ritscher-Schinzel Syndrome 2

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

Variations for Ritscher-Schinzel Syndrome 2

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

ClinVar 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