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

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal 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

Sources

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.

Sources

Related Diseases for Ritscher-Schinzel Syndrome 2

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1

Ritscher-Schinzel Syndrome 2

Sources

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	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

Sources

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 2

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

Sources

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

Sources

Anatomical Context for Ritscher-Schinzel Syndrome 2

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

⁴¹

Brain, Heart, Tongue

Sources

Publications for Ritscher-Schinzel Syndrome 2

Sources

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	1328.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24916641 19377476 21826058

Sources

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

Sources

Expression for Ritscher-Schinzel Syndrome 2

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

Sources

Pathways for Ritscher-Schinzel Syndrome 2

Sources

GO Terms for Ritscher-Schinzel Syndrome 2

Sources

Sources for Ritscher-Schinzel Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia