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SCZD17
MCID: CHR669
MIFTS: 27

Chromosome 2p16.3 Deletion Syndrome (SCZD17)

Categories: Genetic diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Chromosome 2p16.3 Deletion Syndrome

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

Name: Chromosome 2p16.3 Deletion Syndrome 57 72
Schizophrenia 17 57 74 29 6 72
Schizophrenia, Susceptibility to, 17 57 13
Schizophrenia Susceptibility Locus Chromosome 2p16-Related 74
Schizophrenia, Type 17 40
Sczd17 74

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 614332
MeSH 44 D012559
UMLS 72 C3280524 C3808494
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Summaries for Chromosome 2p16.3 Deletion Syndrome

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UniProtKB/Swiss-Prot : 74 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). The drugs Pantoprazole and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye.

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)

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Related Diseases for Chromosome 2p16.3 Deletion Syndrome

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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

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Symptoms & Phenotypes for Chromosome 2p16.3 Deletion Syndrome

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Clinical features from OMIM:

614332
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Drugs & Therapeutics for Chromosome 2p16.3 Deletion Syndrome

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Drugs for Chromosome 2p16.3 Deletion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pantoprazole Approved Phase 2, Phase 3 102625-70-7 4679
2
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
3 Analgesics Phase 2, Phase 3
4 Gastrointestinal Agents Phase 2, Phase 3
5 Antacids Phase 2, Phase 3
6 Cyclooxygenase Inhibitors Phase 2, Phase 3
7 Analgesics, Non-Narcotic Phase 2, Phase 3
8 Fibrinolytic Agents Phase 2, Phase 3
9 Peripheral Nervous System Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
11 Anti-Inflammatory Agents Phase 2, Phase 3
12 Antipyretics Phase 2, Phase 3
13 Platelet Aggregation Inhibitors Phase 2, Phase 3
14 Proton Pump Inhibitors Phase 2, Phase 3
15 Anti-Ulcer Agents Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Aspirin as Adjuvant Therapy in Young Psychotic Patients Recruiting NCT02685748 Phase 2, Phase 3 Aspirin;Placebo;Pantoprazole

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

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Genetic Tests for Chromosome 2p16.3 Deletion Syndrome

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

# Genetic test Affiliating Genes
1 Schizophrenia 17 29 NRXN1
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Anatomical Context for Chromosome 2p16.3 Deletion Syndrome

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MalaCards organs/tissues related to Chromosome 2p16.3 Deletion Syndrome:

41
Brain, Testes, Eye, Cortex, Cingulate Cortex
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Publications for Chromosome 2p16.3 Deletion Syndrome

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Articles related to Chromosome 2p16.3 Deletion Syndrome:

(show all 43)
# Title Authors PMID Year
1
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 8 71
21424692 2011
2
Investigation of NRXN1 deletions: clinical and molecular characterization. 8
23495017 2013
3
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 8
22617343 2012
4
Disruption of the neurexin 1 gene is associated with schizophrenia. 8
18945720 2009
5
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. 8
18369103 2008
6
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. 8
17989066 2008
7
Disruption of neurexin 1 associated with autism spectrum disorder. 8
18179900 2008
8
Clinical and Brain Structural Effects of the Illness Management and Recovery Program in Middle-aged and Older Patients with Schizophrenia. 38
31353759 2019
9
Impaired attentional modulation of sensorimotor control and cortical excitability in schizophrenia. 38
31099820 2019
10
Quality indicators in the treatment of patients with depression, bipolar disorder or schizophrenia. Consensus study. 38
29317210 2018
11
Neurometabolic abnormalities in schizophrenia and depression observed with magnetic resonance spectroscopy at 7 T. 38
28243459 2017
12
The 40-Hz Auditory Steady-State Response in Patients With Schizophrenia: A Meta-analysis. 38
27732692 2016
13
Peripheral Immune Cell Populations Associated with Cognitive Deficits and Negative Symptoms of Treatment-Resistant Schizophrenia. 38
27244229 2016
14
Prefrontal gyrification in psychotic bipolar I disorder vs. schizophrenia. 38
26160154 2015
15
Further neuroimaging evidence for the deficit subtype of schizophrenia: a cortical connectomics analysis. 38
25786193 2015
16
Negative correlation between cerebrospinal fluid oxytocin levels and negative symptoms of male patients with schizophrenia. 38
22742979 2012
17
Effect of quetiapine and norquetiapine on anxiety and depression in major psychoses using a pharmacokinetic approach: a prospective observational study. 38
22299714 2012
18
A morphometric, immunohistochemical, and in situ hybridization study of the dorsal raphe nucleus in major depression, bipolar disorder, schizophrenia, and suicide. 38
22129767 2012
19
Prefrontal and striatal volumes in monozygotic twins concordant and discordant for schizophrenia. 38
20538831 2012
20
Biochemical changes in the cingulum in patients with schizophrenia and chronic bipolar disorder. 38
18437276 2008
21
Absence and size of massa intermedia in patients with schizophrenia and bipolar disorder. 38
25385654 2008
22
Impaired recognition and expression of emotional prosody in schizophrenia: review and meta-analysis. 38
17766089 2007
23
Repetitive transcranial magnetic stimulation for negative symptoms of schizophrenia: a randomized controlled pilot study. 38
17478080 2007
24
Progressive and interrelated functional and structural evidence of post-onset brain reduction in schizophrenia. 38
17485604 2007
25
Increased levels of serum soluble L-selectin in unmedicated patients with schizophrenia. 38
17049815 2007
26
PhenoChipping of psychotic disorders: a novel approach for deconstructing and quantitating psychiatric phenotypes. 38
16838358 2006
27
Spatial working memory as a cognitive endophenotype of schizophrenia: assessing risk for pathophysiological dysfunction. 38
16687386 2006
28
The use of clozapine in adults with intellectual disability. 38
15312058 2004
29
Density of glutamic acid decarboxylase 67 messenger RNA-containing neurons that express the N-methyl-D-aspartate receptor subunit NR2A in the anterior cingulate cortex in schizophrenia and bipolar disorder. 38
15237077 2004
30
Comorbid personality disorders and substance use disorders of mentally ill homicide offenders: a structured clinical study on dual and triple diagnoses. 38
15176762 2004
31
Effects of nicotine on leading saccades during smooth pursuit eye movements in smokers and nonsmokers with schizophrenia. 38
12968127 2003
32
Impaired visuomotor integration in acute schizophrenia. 38
12872206 2003
33
[Investigation of recent problems in an acute care psychiatric ward considering the number psychiatrists working in the ward]. 38
12078107 2002
34
Left ear (right temporal hemisphere) advantage and left temporal hemispheric dysfunction in schizophrenia. 38
11693689 2001
35
Visual information-processing impairments in deficit and nondeficit schizophrenia. 38
9137120 1997
36
Psychogenic (reactive) and hysterical psychoses: a cross-system reliability study. 38
9065675 1997
37
[Patterns of the use of electroconvulsive therapy in Barcelona]. 38
8667659 1996
38
Maintenance of training effects on the Wisconsin Card Sorting Test by patients with schizophrenia or affective disorders. 38
8267109 1994
39
Cocaine abuse among schizophrenic patients. 38
2386250 1990
40
Inpatient diagnoses during Adolf Meyer's tenure as director of the Henry Phipps Psychiatric Clinic, 1913-1940. 38
3537208 1986
41
Additional studies on side effects of melperone in long-term therapy for 1-20 years in psychiatric patients. 38
2873821 1986
42
Cytomegalovirus antibody in cerebrospinal fluid of schizophrenic patients detected by enzyme immunoassay. 38
6281883 1982
43
The late positive component of the evoked response in acute schizophrenics during a test of sustained attention. 38
7357059 1980
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Variations for Chromosome 2p16.3 Deletion Syndrome

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

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NRXN1 deletion Pathogenic 2:51057824-51172182 2:50830687-50945045
2 NRXN1 NM_001135659.2(NRXN1): c.4411_4414dup (p.Gly1472fs) duplication risk factor 2:50149312-50149315 2:49922174-49922177
3 NRXN1 NM_001135659.2(NRXN1): c.2579G> A (p.Ser860Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs80293130 2:50733671-50733671 2:50506533-50506533
4 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 2:50724745-50724745 2:50497607-50497607
5 NRXN1 NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199784029 2:51255090-51255090 2:51027952-51027952
6 NRXN1 NM_001135659.2(NRXN1): c.569A> G (p.Asn190Ser) single nucleotide variant Uncertain significance rs200792504 2:51254843-51254843 2:51027705-51027705
7 NRXN1 NM_001135659.2(NRXN1): c.270G> T (p.Gln90His) single nucleotide variant Uncertain significance rs199960045 2:51255142-51255142 2:51028004-51028004
8 NRXN1 NM_001135659.2(NRXN1): c.4131G> C (p.Glu1377Asp) single nucleotide variant Uncertain significance rs200935246 2:50280526-50280526 2:50053388-50053388
9 NRXN1 NM_001135659.2(NRXN1): c.3662A> G (p.His1221Arg) single nucleotide variant Uncertain significance rs200915287 2:50463931-50463931 2:50236793-50236793
10 NRXN1 NM_001135659.2(NRXN1): c.3527C> T (p.Thr1176Met) single nucleotide variant Uncertain significance 2:50464066-50464066 2:50236928-50236928
11 NRXN1 NM_001135659.2(NRXN1): c.3485-109939C> T single nucleotide variant Uncertain significance rs766942777 2:50574047-50574047 2:50346909-50346909
12 NRXN1 NM_001135659.2(NRXN1): c.2653C> T (p.His885Tyr) single nucleotide variant Uncertain significance rs199784139 2:50724817-50724817 2:50497679-50497679
13 NRXN1 NM_001135659.2(NRXN1): c.2310G> T (p.Gln770His) single nucleotide variant Uncertain significance rs199978276 2:50758522-50758522 2:50531384-50531384
14 NRXN1 NM_001135659.2(NRXN1): c.2098G> A (p.Ala700Thr) single nucleotide variant Uncertain significance rs199939303 2:50765556-50765556 2:50538418-50538418
15 NRXN1 NM_001135659.2(NRXN1): c.302C> G (p.Ala101Gly) single nucleotide variant Uncertain significance rs200184823 2:51255110-51255110 2:51027972-51027972
16 NRXN1 NM_001135659.2(NRXN1): c.262C> G (p.Arg88Gly) single nucleotide variant Uncertain significance rs748684256 2:51255150-51255150 2:51028012-51028012
17 NRXN1 NM_001135659.2(NRXN1): c.3485-109902C> T single nucleotide variant Uncertain significance 2:50574010-50574010 2:50346872-50346872
18 NRXN1 NM_001135659.2(NRXN1): c.1820T> G (p.Leu607Trp) single nucleotide variant Uncertain significance rs372311299 2:50779784-50779784 2:50552646-50552646
19 NRXN1 NM_001135659.2(NRXN1): c.1904G> A (p.Arg635His) single nucleotide variant Uncertain significance rs761279630 2:50765750-50765750 2:50538612-50538612
20 NRXN1 NM_001135659.2(NRXN1): c.600C> T (p.Gly200=) single nucleotide variant Uncertain significance rs201481698 2:51254812-51254812 2:51027674-51027674
21 NRXN1 NM_001135659.2(NRXN1): c.665_673dup (p.Glu222_Glu224dup) duplication Uncertain significance rs774230140 2:51254739-51254747 2:51027601-51027609
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Expression for Chromosome 2p16.3 Deletion Syndrome

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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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Sources for Chromosome 2p16.3 Deletion Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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