SCZD17
MCID: CHR669
MIFTS: 13

Chromosome 2p16.3 Deletion Syndrome (SCZD17)

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Chromosome 2p16.3 Deletion Syndrome

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

Name: Chromosome 2p16.3 Deletion Syndrome 57 73
Schizophrenia 17 57 75 29 6 73
Schizophrenia, Susceptibility to, 17 57 13
Schizophrenia Susceptibility Locus Chromosome 2p16-Related 75
Schizophrenia, Type 17 40
Sczd17 75

Classifications:



External Ids:

OMIM 57 614332
MedGen 42 C3280524
MeSH 44 D012559

Summaries for Chromosome 2p16.3 Deletion Syndrome

UniProtKB/Swiss-Prot : 75 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 childhood-onset schizophrenia. An important gene associated with Chromosome 2p16.3 Deletion Syndrome is NRXN1 (Neurexin 1).

OMIM : 57 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)

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 childhood-onset schizophrenia 9.8

Symptoms & Phenotypes for Chromosome 2p16.3 Deletion Syndrome

Clinical features from OMIM:

614332

Drugs & Therapeutics for Chromosome 2p16.3 Deletion Syndrome

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

Genetic Tests for Chromosome 2p16.3 Deletion Syndrome

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

# Genetic test Affiliating Genes
1 Schizophrenia 17 29 NRXN1

Anatomical Context for Chromosome 2p16.3 Deletion Syndrome

Publications for Chromosome 2p16.3 Deletion Syndrome

Variations for Chromosome 2p16.3 Deletion Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NRXN1 NM_001135659.1: c.4411_4414dupACGG duplication risk factor
2 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh37 Chromosome 2, 50724745: 50724745
3 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh38 Chromosome 2, 50497607: 50497607
4 NRXN1 NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199784029 GRCh37 Chromosome 2, 51255090: 51255090
5 NRXN1 NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199784029 GRCh38 Chromosome 2, 51027952: 51027952
6 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh37 Chromosome 2, 51254843: 51254843
7 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 GRCh38 Chromosome 2, 51027705: 51027705
8 NRXN1 NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs80293130 GRCh37 Chromosome 2, 50733671: 50733671
9 NRXN1 NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs80293130 GRCh38 Chromosome 2, 50506533: 50506533
10 NRXN1 NC_000002.11: g.51057824_51172182del114359 deletion Pathogenic GRCh37 Chromosome 2, 51057824: 51172182

Expression for Chromosome 2p16.3 Deletion Syndrome

Search GEO for disease gene expression data 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

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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74 UMLS via Orphanet
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