SCZD9
MCID: SCH073
MIFTS: 33

Schizophrenia 9 (SCZD9)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Schizophrenia 9

MalaCards integrated aliases for Schizophrenia 9:

Name: Schizophrenia 9 56 12 73 29 15 71
Sczd9 56 12 73
Schizophrenia 9, Susceptibility to 56 6
Schizophrenia Susceptibility Locus, Chromosome 1q42-Related 56
Schizophrenia Susceptibility Locus Chromosome 1q-Related 73
Schizophrenia 9 with or Without an Affective Disorder 56
Schizophrenia, Type 9 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0070085
OMIM 56 604906
MeSH 43 D012559
MedGen 41 C1858050
UMLS 71 C1858050

Summaries for Schizophrenia 9

UniProtKB/Swiss-Prot : 73 Schizophrenia 9: 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 : Schizophrenia 9, also known as sczd9, is related to delusional disorder and tetrahydrobiopterin deficiency. An important gene associated with Schizophrenia 9 is DISC1 (DISC1 Scaffold Protein), and among its related pathways/superpathways are Circadian entrainment and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include brain.

Disease Ontology : 12 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.

More information from OMIM: 604906

Related Diseases for Schizophrenia 9

Graphical network of the top 20 diseases related to Schizophrenia 9:



Diseases related to Schizophrenia 9

Symptoms & Phenotypes for Schizophrenia 9

Clinical features from OMIM:

604906

Drugs & Therapeutics for Schizophrenia 9

Drugs for Schizophrenia 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
3 Anti-Infective Agents Phase 4
4 Free Radical Scavengers Phase 4
5 Antioxidants Phase 4
6 Antiviral Agents Phase 4
7 N-monoacetylcystine Phase 4
8 Respiratory System Agents Phase 4
9 Protective Agents Phase 4
10 Antidotes Phase 4
11 Expectorants Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine

Search NIH Clinical Center for Schizophrenia 9

Genetic Tests for Schizophrenia 9

Genetic tests related to Schizophrenia 9:

# Genetic test Affiliating Genes
1 Schizophrenia 9 29 DISC1

Anatomical Context for Schizophrenia 9

MalaCards organs/tissues related to Schizophrenia 9:

40
Brain

Publications for Schizophrenia 9

Articles related to Schizophrenia 9:

(show all 40)
# Title Authors PMID Year
1
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. 56 6
16103888 2005
2
Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. 56 6
15386212 2004
3
Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. 56 6
14532331 2003
4
The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations. 56
19414483 2009
5
Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia. 56
18164685 2008
6
Specific developmental disruption of disrupted-in-schizophrenia-1 function results in schizophrenia-related phenotypes in mice. 6
17984054 2007
7
Dominant-negative DISC1 transgenic mice display schizophrenia-associated phenotypes detected by measures translatable to humans. 56
17675407 2007
8
Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory. 56
16275808 2005
9
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. 56
15197400 2004
10
Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. 56
11443544 2001
11
Chromosome 1 loci in Finnish schizophrenia families. 56
11468279 2001
12
The genetics of schizophrenic and schizoid disease. 56
4902547 1970
13
The burden of mental disorders across the states of India: the Global Burden of Disease Study 1990-2017. 61
31879245 2020
14
Adjunctive memantine for major mental disorders: A systematic review and meta-analysis of randomized double-blind controlled trials. 61
31164254 2019
15
Insight across mental disorders: A multifaceted metacognitive phenomenon. 61
31115349 2019
16
Microglia in the dorsal raphe nucleus plays a potential role in both suicide facilitation and prevention in affective disorders. 61
28229240 2017
17
Cardiometabolic comorbidities, readmission, and costs in schizophrenia and bipolar disorder: a real-world analysis. 61
28203265 2017
18
Ribosomal DNA transcription in dorsal raphe nucleus neurons is increased in residual schizophrenia compared to depressed patients with affective disorders. 61
26350704 2015
19
Criterion validity of the cognitive slippage and schizotypal ambivalence scales. 61
24693822 2013
20
Is the GABA System Related to the Social Competence Improvement Effect of Aripiprazole? An (18)F-Fluoroflumazenil PET Study. 61
23482902 2013
21
[Minor physical abnormalities and clinical features in patients with schizophrenia spectrum disorders]. 61
22492099 2012
22
[An analysis of mental disorders of international students visiting the Mental Health Service at Tsukuba University Health Center]. 61
22420147 2012
23
Clozapine v. chlorpromazine in treatment-naive, first-episode schizophrenia: 9-year outcomes of a randomised clinical trial. 61
21292928 2011
24
The early auditory gamma-band response is heritable and a putative endophenotype of schizophrenia. 61
19946013 2011
25
Regional gray matter volume in monozygotic twins concordant and discordant for schizophrenia. 61
20006324 2010
26
The volumes of the fornix in schizophrenia and affective disorders: a post-mortem study. 61
19022630 2008
27
Postoperative complications in the seriously mentally ill: a systematic review of the literature. 61
18580204 2008
28
Aberrantly flattened responsivity to emotional pictures in paranoid schizophrenia. 61
16884781 2006
29
Greater impairment in negative emotion evaluation ability in patients with paranoid schizophrenia. 61
16807983 2006
30
Complementary and alternative medicine use by psychiatric inpatients. 61
15825920 2005
31
Stereological analysis of the mediodorsal thalamic nucleus in schizophrenia: volume, neuron number, and cell types. 61
15065119 2004
32
Human endogenous retroviruses with transcriptional potential in the brain. 61
14564540 2003
33
The long and the short of it: influence of interstimulus interval on auditory P300 abnormalities in schizophrenia. 61
12192662 2002
34
Is there an association between duration of untreated psychosis and 24-month clinical outcome in a first-admission series? 61
10618014 2000
35
Relationship between nailfold plexus visibility and clinical, neuropsychological, and brain structural measures in schizophrenia. 61
10394479 1999
36
The influence of expressed emotion, family dynamics, and symptom type on the social adjustment of schizophrenic young adults. 61
8956675 1996
37
A follow-up study of early onset psychosis: comparison between outcome diagnoses of schizophrenia, mood disorders, and personality disorders. 61
8331046 1993
38
Midline cerebral malformations and schizophrenia. 61
8369638 1993
39
A study of epileptic psychoses - 150 cases. 61
21927181 1986
40
A preliminary study of the personality of the nightmare sufferer: relationship to schizophrenia and creativity? 61
7246811 1981

Variations for Schizophrenia 9

ClinVar genetic disease variations for Schizophrenia 9:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DISC1 DISC1, HAPLOTYPE, HEP3undetermined variant risk factor 5172

Expression for Schizophrenia 9

Search GEO for disease gene expression data for Schizophrenia 9.

Pathways for Schizophrenia 9

Pathways related to Schizophrenia 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 TH NOS1AP NOS1
2 11.47 TH NOS1AP
3
Show member pathways
10.59 TH NOS1
4 10.09 NOS1AP NOS1

GO Terms for Schizophrenia 9

Cellular components related to Schizophrenia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.63 SYN3 NOS1 DISC1
2 mitochondrion GO:0005739 9.62 TH NOS1AP NOS1 DISC1
3 perinuclear region of cytoplasm GO:0048471 9.61 NOS1AP NOS1 DISC1
4 Z disc GO:0030018 9.48 NOS1AP NOS1
5 sarcolemma GO:0042383 9.4 NOS1AP NOS1
6 caveola GO:0005901 9.37 NOS1AP NOS1
7 T-tubule GO:0030315 9.26 NOS1AP NOS1
8 sarcoplasmic reticulum membrane GO:0033017 9.16 NOS1AP NOS1
9 postsynaptic density GO:0014069 9.13 SYN3 NOS1 DISC1
10 synaptic vesicle GO:0008021 8.8 TH SYN3 DISC1

Biological processes related to Schizophrenia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.37 TH NOS1
2 response to hypoxia GO:0001666 9.32 TH NOS1
3 cellular response to growth factor stimulus GO:0071363 9.26 TH NOS1
4 response to electrical stimulus GO:0051602 9.16 TH DISC1
5 neurotransmitter biosynthetic process GO:0042136 8.96 TH NOS1
6 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 8.62 NOS1AP NOS1

Molecular functions related to Schizophrenia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tetrahydrobiopterin binding GO:0034617 8.62 TH NOS1

Sources for Schizophrenia 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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