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 ⁷² ²⁹ ⁶ ¹⁵

Rtsc2 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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® ⁵⁷ 300963

OMIM Phenotypic Series ⁵⁷ PS220210

MeSH ⁴⁴ D003616 D006344 D019465

MedGen ⁴¹ C4225419 CN233320

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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) (Updated 05-Apr-2021)

MalaCards based summary : Ritscher-Schinzel Syndrome 2, also known as rtsc2, is related to ritscher-schinzel syndrome and pitt-hopkins-like syndrome 1. An important gene associated with Ritscher-Schinzel Syndrome 2 is CCDC22 (Coiled-Coil Domain Containing 22), and among its related pathways/superpathways are Signaling by Rho GTPases and Transmission across Chemical Synapses. Affiliated tissues include tongue, and related phenotypes are macrocephaly and scoliosis

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

UniProtKB/Swiss-Prot : ⁷² 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
Ritscher-Schinzel Syndrome 3

Diseases related to Ritscher-Schinzel Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	ritscher-schinzel syndrome	10.2	CCDC22 ARHGEF9
2	pitt-hopkins-like syndrome 1	10.1	NLGN4X NLGN2
3	skin granular cell tumor	9.9	PLEK MCF2
4	charcot-marie-tooth disease, type 4h	9.9	MCF2 CDC42
5	kaufman oculocerebrofacial syndrome	9.9	NLGN4X NLGN2 GPHN
6	clostridium difficile colitis	9.9	RHOQ CDC42
7	kagami-ogata syndrome	9.9	NLGN4X NLGN2 GPHN
8	pervasive developmental disorder	9.8	NLGN4X NLGN2 GPHN
9	fragile x syndrome	9.7	NLGN4X NLGN2 GPHN
10	stiff-person syndrome	9.7	GPHN GAD2
11	aarskog-scott syndrome	9.7	PLEK MCF2 CDC42
12	hyperekplexia	9.5	NLGN2 GPHN GAD2 ARHGEF9
13	rasopathy	9.5	PLEK MCF2 CDC42
14	autism	9.2	NLGN4X NLGN2 GPHN GAD2 ARHGEF9
15	autism spectrum disorder	9.1	NLGN4X GPHN GAD2 ARHGEF9
16	disease of mental health	8.6	PLEK NLGN4X NLGN2 GPHN GAD2 CDC42

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Mouth:
protruding tongue

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

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

Skeletal Feet:
broad halluces
overriding toes

Head And Neck Head:
large head circumference

Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures

Head And Neck Neck:
broad neck

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
short philtrum
broad forehead

Muscle Soft Tissue:
hypotonia

Growth Other:
growth delay, postnatal

Skeletal Skull:
large anterior fontanelles

Clinical features from OMIM®:

300963 (Updated 05-Apr-2021)

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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

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. ⁵⁷ ⁶	Kolanczyk M...Horn D	24916641	2015
2	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. ⁶ ⁵⁷	Voineagu I...Geschwind D	21826058	2012
3	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. ⁵⁷ 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):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CCDC22	Coiled-Coil Domain Containing 22	Protein Coding	1325.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24916641
2	ARHGEF9	Cdc42 Guanine Nucleotide Exchange Factor 9	Protein Coding	6.91	DISEASES inferred ¹⁵
3	FAM3A	FAM3 Metabolism Regulating Signaling Molecule A	Protein Coding	6.36	DISEASES inferred ¹⁵
4	NLGN2	Neuroligin 2	Protein Coding	5.5	DISEASES inferred ¹⁵
5	NLGN4X	Neuroligin 4 X-Linked	Protein Coding	5.11	DISEASES inferred ¹⁵
6	MCF2	MCF.2 Cell Line Derived Transforming Sequence	Protein Coding	5.1	DISEASES inferred ¹⁵
7	GPHN	Gephyrin	Protein Coding	5	DISEASES inferred ¹⁵
8	RHOQ	Ras Homolog Family Member Q	Protein Coding	4.82	DISEASES inferred ¹⁵
9	PLEK	Pleckstrin	Protein Coding	4.22	DISEASES inferred ¹⁵
10	GAD2	Glutamate Decarboxylase 2	Protein Coding	4.13	DISEASES inferred ¹⁵
11	CDC42	Cell Division Cycle 42	Protein Coding	3.76	DISEASES inferred ¹⁵

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Variations for Ritscher-Schinzel Syndrome 2

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:

⁶ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CCDC22	NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)	SNV	Pathogenic	218106	rs863225429	GRCh37: X:49106004-49106004 GRCh38: X:49249543-49249543
2	CCDC22	NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	SNV	Pathogenic	218105	rs863225428	GRCh37: X:49092145-49092145 GRCh38: X:49235685-49235685
3	CCDC22	NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg)	Indel	Uncertain significance	995994		GRCh37: X:49099629-49099630 GRCh38: X:49243163-49243164
4	CCDC22	NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)	SNV	Uncertain significance	871786		GRCh37: X:49105152-49105152 GRCh38: X:49248691-49248691
5	CCDC22	NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)	SNV	Uncertain significance	1031225		GRCh37: X:49093612-49093612 GRCh38: X:49237145-49237145
6	CCDC22	NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)	SNV	Uncertain significance	1031226		GRCh37: X:49105698-49105698 GRCh38: X:49249237-49249237
7	CCDC22	NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)	SNV	Uncertain significance	1032585		GRCh37: X:49105107-49105107 GRCh38: X:49248646-49248646
8	CCDC22	NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)	SNV	Uncertain significance	1032586		GRCh37: X:49099373-49099373 GRCh38: X:49242907-49242907
9	CCDC22	NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	SNV	Uncertain significance	638386	rs199545573	GRCh37: X:49093699-49093699 GRCh38: X:49237232-49237232
10	CCDC22	NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp)	SNV	Uncertain significance	975935		GRCh37: X:49106705-49106705 GRCh38: X:49250244-49250244
11	CCDC22	NM_014008.5(CCDC22):c.1636-6G>C	SNV	Uncertain significance	976070		GRCh37: X:49105964-49105964 GRCh38: X:49249503-49249503

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

⁷²

#	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

Pathways related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Rho GTPases ⁶⁵ Show member pathways RHO GTPase Effectors ⁶⁵	12.48	RHOQ MCF2 CDC42 ARHGEF9
2	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.41	NLGN4X NLGN2 GAD2 ARHGEF9
3	p75 NTR receptor-mediated signalling ⁶⁵ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁵ Axonal growth stimulation ⁶⁵ Cell death signalling via NRAGE, NRIF and NADE ⁶⁵ G alpha (12/13) signalling events ⁶⁵ NADE modulates death signalling ⁶⁵ NF-kB is activated and signals survival ⁶⁵ NRAGE signals death through JNK ⁶⁵ NRIF signals cell death from the nucleus ⁶⁵ p75NTR negatively regulates cell cycle via SC1 ⁶⁵ p75NTR recruits signalling complexes ⁶⁵ p75NTR regulates axonogenesis ⁶⁵ p75NTR signals via NF-kB ⁶⁵ Regulated proteolysis of p75NTR ⁶⁵ Rho GTPase cycle ⁶⁵	12.02	RHOQ MCF2 CDC42 ARHGEF9
4	Signaling by Slit ⁶³	11.05	CDC42 ARHGEF9
5	G-protein signaling_Regulation of CDC42 activity ²³	10.66	MCF2 CDC42
6	Regulation of CDC42 activity ¹	10.28	MCF2 CDC42 ARHGEF9

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GO Terms for Ritscher-Schinzel Syndrome 2

Cellular components related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	10.01	RHOQ PLEK MCF2 GPHN GAD2 CDC42
2	cell junction	GO:0030054	9.72	NLGN4X NLGN2 GPHN GAD2 ARHGEF9
3	synapse	GO:0045202	9.55	NLGN4X NLGN2 GPHN GAD2 ARHGEF9
4	postsynaptic membrane	GO:0045211	9.54	NLGN4X NLGN2 GPHN
5	inhibitory synapse	GO:0060077	9.26	NLGN2 GAD2
6	spanning component of membrane	GO:0089717	8.96	NLGN4X NLGN2
7	symmetric, GABA-ergic, inhibitory synapse	GO:0098983	8.62	NLGN4X NLGN2

Biological processes related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	chemical synaptic transmission	GO:0007268	9.65	NLGN4X NLGN2 GAD2
2	synapse organization	GO:0050808	9.49	NLGN4X NLGN2
3	synaptic vesicle endocytosis	GO:0048488	9.46	NLGN4X NLGN2
4	cortical actin cytoskeleton organization	GO:0030866	9.43	RHOQ PLEK
5	positive regulation of filopodium assembly	GO:0051491	9.4	RHOQ CDC42
6	cell projection assembly	GO:0030031	9.37	RHOQ CDC42
7	neuron cell-cell adhesion	GO:0007158	9.32	NLGN4X NLGN2
8	presynapse assembly	GO:0099054	9.26	NLGN4X NLGN2
9	presynaptic membrane assembly	GO:0097105	9.16	NLGN4X NLGN2
10	postsynaptic membrane assembly	GO:0097104	8.96	NLGN4X NLGN2
11	regulation of small GTPase mediated signal transduction	GO:0051056	8.92	RHOQ MCF2 CDC42 ARHGEF9

Molecular functions related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neurexin family protein binding	GO:0042043	8.96	NLGN4X NLGN2
2	GBD domain binding	GO:0032427	8.62	RHOQ CDC42

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Sources for Ritscher-Schinzel Syndrome 2

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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:

Diseases related to Ritscher-Schinzel Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ritscher-Schinzel Syndrome 2:

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

Pathways related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Ritscher-Schinzel Syndrome 2

Cellular components related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Ritscher-Schinzel Syndrome 2