Chromosome 2p16.3 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCZD17 MCID: CHR669 MIFTS: 15	Chromosome 2p16.3 Deletion Syndrome (SCZD17) Categories: Genetic diseases, Mental diseases
Genes Variations Related diseases Publications Expand all tables

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Aliases & Classifications for Chromosome 2p16.3 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2p16.3 Deletion Syndrome:

Name: Chromosome 2p16.3 Deletion Syndrome ⁵⁸ ⁷⁴

Schizophrenia 17 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Schizophrenia, Susceptibility to, 17 ⁵⁸ ¹³

Schizophrenia Susceptibility Locus Chromosome 2p16-Related ⁷⁶

Schizophrenia, Type 17 ⁴¹

Sczd17 ⁷⁶

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614332

MeSH ⁴⁵ D012559

MedGen ⁴³ C3280524 C3808494

UMLS ⁷⁴ C3280524 C3808494

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Summaries for Chromosome 2p16.3 Deletion Syndrome

UniProtKB/Swiss-Prot : ⁷⁶ Schizophrenia 17: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.

MalaCards based summary : Chromosome 2p16.3 Deletion Syndrome, also known as schizophrenia 17, is related to schizophrenia and childhood-onset schizophrenia. An important gene associated with Chromosome 2p16.3 Deletion Syndrome is NRXN1 (Neurexin 1).

OMIM : ⁵⁸ Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500. (614332)

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Related Diseases for Chromosome 2p16.3 Deletion Syndrome

Diseases related to Chromosome 2p16.3 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	schizophrenia	9.8
2	childhood-onset schizophrenia	9.8

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Symptoms & Phenotypes for Chromosome 2p16.3 Deletion Syndrome

Clinical features from OMIM:

614332

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Drugs & Therapeutics for Chromosome 2p16.3 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2p16.3 Deletion Syndrome

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Genetic Tests for Chromosome 2p16.3 Deletion Syndrome

Genetic tests related to Chromosome 2p16.3 Deletion Syndrome:

#	Genetic test	Affiliating Genes
1	Schizophrenia 17 ³⁰	NRXN1

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Anatomical Context for Chromosome 2p16.3 Deletion Syndrome

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Publications for Chromosome 2p16.3 Deletion Syndrome

Articles related to Chromosome 2p16.3 Deletion Syndrome:

#	Title	Authors	Year
1	Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. ( 21424692 )	Gauthier J...Rouleau GA	2011

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Genes for Chromosome 2p16.3 Deletion Syndrome

Genes related to Chromosome 2p16.3 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NRXN1	Neurexin 1	Protein Coding	1075	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Risk factor ⁶	21424692

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Variations for Chromosome 2p16.3 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2p16.3 Deletion Syndrome:

⁶ (show all 42)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NRXN1	NM_001135659.2(NRXN1): c.4411_4414dup (p.Gly1472Aspfs)	duplication	risk factor		GRCh37	Chromosome 2, 50149312: 50149315
2	NRXN1	NM_001135659.2(NRXN1): c.4411_4414dup (p.Gly1472Aspfs)	duplication	risk factor		GRCh38	Chromosome 2, 49922174: 49922177
3	NRXN1	NM_001135659.2(NRXN1): c.1820T> G (p.Leu607Trp)	single nucleotide variant	Uncertain significance	rs372311299	GRCh37	Chromosome 2, 50779784: 50779784
4	NRXN1	NM_001135659.2(NRXN1): c.1820T> G (p.Leu607Trp)	single nucleotide variant	Uncertain significance	rs372311299	GRCh38	Chromosome 2, 50552646: 50552646
5	NRXN1	NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201818223	GRCh37	Chromosome 2, 50724745: 50724745
6	NRXN1	NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201818223	GRCh38	Chromosome 2, 50497607: 50497607
7	NRXN1	NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199784029	GRCh37	Chromosome 2, 51255090: 51255090
8	NRXN1	NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199784029	GRCh38	Chromosome 2, 51027952: 51027952
9	NRXN1	NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser)	single nucleotide variant	Uncertain significance	rs200792504	GRCh37	Chromosome 2, 51254843: 51254843
10	NRXN1	NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser)	single nucleotide variant	Uncertain significance	rs200792504	GRCh38	Chromosome 2, 51027705: 51027705
11	NRXN1	NM_001135659.2(NRXN1): c.270G> T (p.Gln90His)	single nucleotide variant	Uncertain significance	rs199960045	GRCh37	Chromosome 2, 51255142: 51255142
12	NRXN1	NM_001135659.2(NRXN1): c.270G> T (p.Gln90His)	single nucleotide variant	Uncertain significance	rs199960045	GRCh38	Chromosome 2, 51028004: 51028004
13	NRXN1	NM_001135659.2(NRXN1): c.4131G> C (p.Glu1377Asp)	single nucleotide variant	Uncertain significance	rs200935246	GRCh37	Chromosome 2, 50280526: 50280526
14	NRXN1	NM_001135659.2(NRXN1): c.4131G> C (p.Glu1377Asp)	single nucleotide variant	Uncertain significance	rs200935246	GRCh38	Chromosome 2, 50053388: 50053388
15	NRXN1	NM_001135659.2(NRXN1): c.3662A> G (p.His1221Arg)	single nucleotide variant	Uncertain significance	rs200915287	GRCh37	Chromosome 2, 50463931: 50463931
16	NRXN1	NM_001135659.2(NRXN1): c.3662A> G (p.His1221Arg)	single nucleotide variant	Uncertain significance	rs200915287	GRCh38	Chromosome 2, 50236793: 50236793
17	NRXN1	NM_001135659.2(NRXN1): c.3527C> T (p.Thr1176Met)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 2, 50464066: 50464066
18	NRXN1	NM_001135659.2(NRXN1): c.3527C> T (p.Thr1176Met)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 2, 50236928: 50236928
19	NRXN1	NM_001135659.2(NRXN1): c.3485-109939C> T	single nucleotide variant	Uncertain significance	rs766942777	GRCh37	Chromosome 2, 50574047: 50574047
20	NRXN1	NM_001135659.2(NRXN1): c.3485-109939C> T	single nucleotide variant	Uncertain significance	rs766942777	GRCh38	Chromosome 2, 50346909: 50346909
21	NRXN1	NM_001135659.2(NRXN1): c.2653C> T (p.His885Tyr)	single nucleotide variant	Uncertain significance	rs199784139	GRCh37	Chromosome 2, 50724817: 50724817
22	NRXN1	NM_001135659.2(NRXN1): c.2653C> T (p.His885Tyr)	single nucleotide variant	Uncertain significance	rs199784139	GRCh38	Chromosome 2, 50497679: 50497679
23	NRXN1	NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80293130	GRCh37	Chromosome 2, 50733671: 50733671
24	NRXN1	NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80293130	GRCh38	Chromosome 2, 50506533: 50506533
25	NRXN1	NM_001135659.2(NRXN1): c.2310G> T (p.Gln770His)	single nucleotide variant	Uncertain significance	rs199978276	GRCh37	Chromosome 2, 50758522: 50758522
26	NRXN1	NM_001135659.2(NRXN1): c.2310G> T (p.Gln770His)	single nucleotide variant	Uncertain significance	rs199978276	GRCh38	Chromosome 2, 50531384: 50531384
27	NRXN1	NM_001135659.2(NRXN1): c.2098G> A (p.Ala700Thr)	single nucleotide variant	Uncertain significance	rs199939303	GRCh37	Chromosome 2, 50765556: 50765556
28	NRXN1	NM_001135659.2(NRXN1): c.2098G> A (p.Ala700Thr)	single nucleotide variant	Uncertain significance	rs199939303	GRCh38	Chromosome 2, 50538418: 50538418
29	NRXN1	NM_001135659.2(NRXN1): c.302C> G (p.Ala101Gly)	single nucleotide variant	Uncertain significance	rs200184823	GRCh38	Chromosome 2, 51027972: 51027972
30	NRXN1	NM_001135659.2(NRXN1): c.302C> G (p.Ala101Gly)	single nucleotide variant	Uncertain significance	rs200184823	GRCh37	Chromosome 2, 51255110: 51255110
31	NRXN1	NM_001135659.2(NRXN1): c.262C> G (p.Arg88Gly)	single nucleotide variant	Uncertain significance	rs748684256	GRCh37	Chromosome 2, 51255150: 51255150
32	NRXN1	NM_001135659.2(NRXN1): c.262C> G (p.Arg88Gly)	single nucleotide variant	Uncertain significance	rs748684256	GRCh38	Chromosome 2, 51028012: 51028012
33	NRXN1	NM_001135659.2(NRXN1): c.1904G> A (p.Arg635His)	single nucleotide variant	Uncertain significance	rs761279630	GRCh37	Chromosome 2, 50765750: 50765750
34	NRXN1	NM_001135659.2(NRXN1): c.1904G> A (p.Arg635His)	single nucleotide variant	Uncertain significance	rs761279630	GRCh38	Chromosome 2, 50538612: 50538612
35	NRXN1	NM_001135659.2(NRXN1): c.600C> T (p.Gly200=)	single nucleotide variant	Uncertain significance	rs201481698	GRCh37	Chromosome 2, 51254812: 51254812
36	NRXN1	NM_001135659.2(NRXN1): c.600C> T (p.Gly200=)	single nucleotide variant	Uncertain significance	rs201481698	GRCh38	Chromosome 2, 51027674: 51027674
37	NRXN1	NM_001135659.2(NRXN1): c.665_673dup (p.Glu224_Gly225insGluGlyGlu)	duplication	Uncertain significance	rs774230140	GRCh38	Chromosome 2, 51027601: 51027609
38	NRXN1	NM_001135659.2(NRXN1): c.665_673dup (p.Glu224_Gly225insGluGlyGlu)	duplication	Uncertain significance	rs774230140	GRCh37	Chromosome 2, 51254739: 51254747
39	NRXN1	NC_000002.12: g.50830687_50945045del114359	deletion	Pathogenic		GRCh37	Chromosome 2, 51057824: 51172182
40	NRXN1	NC_000002.12: g.50830687_50945045del114359	deletion	Pathogenic		GRCh38	Chromosome 2, 50830687: 50945045
41	NRXN1	NM_001135659.2(NRXN1): c.3485-109902C> T	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 2, 50574010: 50574010
42	NRXN1	NM_001135659.2(NRXN1): c.3485-109902C> T	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 2, 50346872: 50346872

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Expression for Chromosome 2p16.3 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2p16.3 Deletion Syndrome.

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Pathways for Chromosome 2p16.3 Deletion Syndrome

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GO Terms for Chromosome 2p16.3 Deletion Syndrome

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Chromosome 2p16.3 Deletion Syndrome (SCZD17)

Aliases & Classifications for Chromosome 2p16.3 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2p16.3 Deletion Syndrome:

Classifications:

External Ids:

Summaries for Chromosome 2p16.3 Deletion Syndrome

Related Diseases for Chromosome 2p16.3 Deletion Syndrome

Diseases related to Chromosome 2p16.3 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Chromosome 2p16.3 Deletion Syndrome

Clinical features from OMIM:

Drugs & Therapeutics for Chromosome 2p16.3 Deletion Syndrome

Genetic Tests for Chromosome 2p16.3 Deletion Syndrome

Genetic tests related to Chromosome 2p16.3 Deletion Syndrome:

Anatomical Context for Chromosome 2p16.3 Deletion Syndrome

Publications for Chromosome 2p16.3 Deletion Syndrome

Articles related to Chromosome 2p16.3 Deletion Syndrome:

Genes for Chromosome 2p16.3 Deletion Syndrome

Genes related to Chromosome 2p16.3 Deletion Syndrome (1 elite genes):

Variations for Chromosome 2p16.3 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2p16.3 Deletion Syndrome:

Expression for Chromosome 2p16.3 Deletion Syndrome

Pathways for Chromosome 2p16.3 Deletion Syndrome

GO Terms for Chromosome 2p16.3 Deletion Syndrome

Sources for Chromosome 2p16.3 Deletion Syndrome