MCID: SCH079
MIFTS: 46

Schizophrenia 1

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

Aliases & Classifications for Schizophrenia 1

MalaCards integrated aliases for Schizophrenia 1:

Name: Schizophrenia 1 57 12 73
Schizophrenia Susceptibility Locus, Chromosome 5-Related 57 13
Sczd1 57 12
Schizophrenia 1 with or Without an Affective Disorder 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
most likely polygenic


HPO:

32
schizophrenia 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schizophrenia 1

Disease Ontology : 12 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.

MalaCards based summary : Schizophrenia 1, also known as schizophrenia susceptibility locus, chromosome 5-related, is related to schizophrenia and bipolar disorder. An important gene associated with Schizophrenia 1 is SCZD1 (Schizophrenia Disorder 1), and among its related pathways/superpathways are Neuroscience and Reelin signaling pathway. The drugs Fluvoxamine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and cortex, and related phenotypes are ectopic kidney and renal agenesis

Description from OMIM: 181510

Related Diseases for Schizophrenia 1

Graphical network of the top 20 diseases related to Schizophrenia 1:



Diseases related to Schizophrenia 1

Symptoms & Phenotypes for Schizophrenia 1

Symptoms via clinical synopsis from OMIM:

57
Head:
hypertelorism
frontal bossing
flat occiput

Growth:
short stature

GU:
renal anomalies
absent kidney
small phallus
partially duplicated displaced kidney

Lab:
partial trisomy for 5q11.2-q13.3 in dysmorphic type

Neuro:
hallucinations
schizophrenia
delusions
social and occupational deterioration
inappropriate emotional responses
more
Limbs:
partial syndactyly of fingers and toes
short fourth toe proximal phalanx

Ears:
protuberant ears


Clinical features from OMIM:

181510

Human phenotypes related to Schizophrenia 1:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 32 HP:0000086
2 renal agenesis 32 HP:0000104
3 hypertelorism 32 HP:0000316
4 protruding ear 32 HP:0000411
5 hallucinations 32 HP:0000738
6 delusions 32 HP:0000746
7 frontal bossing 32 HP:0002007
8 short stature 32 HP:0004322
9 flat occiput 32 HP:0005469
10 social and occupational deterioration 32 HP:0007086
11 partially duplicated kidney 32 HP:0008738
12 short proximal phalanx of the 4th toe 32 HP:0100396
13 schizophrenia 32 HP:0100753

GenomeRNAi Phenotypes related to Schizophrenia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 DISC1 EIF3H GSK3B PAFAH1B1 PCNT SPTBN4

MGI Mouse Phenotypes related to Schizophrenia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CCDC141 DISC1 DTNBP1 GSK3B PAFAH1B1 PDE4B
2 nervous system MP:0003631 9.28 CCDC141 DISC1 DTNBP1 GSK3B PAFAH1B1 PDE4B

Drugs & Therapeutics for Schizophrenia 1

Drugs for Schizophrenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluvoxamine Approved, Investigational Not Applicable 54739-18-3 3404 5324346
2
Aripiprazole Approved, Investigational 129722-12-9 60795
3
Dopamine Approved 51-61-6, 62-31-7 681
4
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
5
Nicotinamide Approved, Investigational, Nutraceutical 98-92-0 936
6 Anti-Anxiety Agents Not Applicable
7 Antidepressive Agents Not Applicable
8 Antidepressive Agents, Second-Generation Not Applicable
9 Central Nervous System Depressants Not Applicable
10 Cytochrome P-450 CYP1A2 Inhibitors Not Applicable
11 Cytochrome P-450 Enzyme Inhibitors Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Neurotransmitter Uptake Inhibitors Not Applicable
14 Psychotropic Drugs Not Applicable
15 Serotonin Agents Not Applicable
16 Serotonin Uptake Inhibitors Not Applicable
17 Tranquilizing Agents Not Applicable
18 Dopamine Agents
19 Nicotinic Acids
20
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202
21 Catechol Nutraceutical
22 Vitamin B3 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Fluvoxamine on Cognition, Behavior, Symptoms and mRNA and Protein Expression in Schizophrenia Patients Unknown status NCT01832285 Not Applicable fluvoxamine
2 A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations Unknown status NCT01075373

Search NIH Clinical Center for Schizophrenia 1

Genetic Tests for Schizophrenia 1

Anatomical Context for Schizophrenia 1

MalaCards organs/tissues related to Schizophrenia 1:

41
Kidney, Brain, Cortex

Publications for Schizophrenia 1

Articles related to Schizophrenia 1:

(show top 50) (show all 56)
# Title Authors Year
1
TAR DNA-Binding Protein 43 and Disrupted in Schizophrenia 1 Coaggregation Disrupts Dendritic Local Translation and Mental Function in Frontotemporal Lobar Degeneration. ( 29752072 )
2018
2
Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. ( 29961565 )
2018
3
Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis. ( 29410289 )
2018
4
Biophysical insights from a single chain camelid antibody directed against the Disrupted-in-Schizophrenia 1 protein. ( 29324815 )
2018
5
Disrupted in Schizophrenia 1 regulates the processing of reelin in the perinatal cortex. ( 28433501 )
2017
6
Transfer of disrupted-in-schizophrenia 1 aggregates between neuronal-like cells occurs in tunnelling nanotubes and is promoted by dopamine. ( 28275106 )
2017
7
A structural organization for the Disrupted in Schizophrenia 1 protein, identified by high-throughput screening, reveals distinctly folded regions, which are bisected by mental illness-related mutations. ( 28249940 )
2017
8
The impact of Disrupted-in-Schizophrenia 1 (DISC1) on the dopaminergic system: a systematic review. ( 28140405 )
2017
9
Expression of Disrupted-in-schizophrenia 1 in Hippocampus in Postpartum Depression Animal Models Induced by Pre-pregnancy Stress. ( 28483022 )
2017
10
Disrupted in schizophrenia 1 (DISC1) inhibits glioblastoma development by regulating mitochondria dynamics. ( 27852062 )
2016
11
Disrupted-in-schizophrenia 1 (DISC1) and Syntaphilin collaborate to modulate axonal mitochondrial anchoring. ( 27370822 )
2016
12
Misassembly of non-mutant full-length Disrupted-in-Schizophrenia 1 protein is induced by dopamine in vitro and in vivo. ( 27756909 )
2016
13
Disrupted in schizophrenia 1 (DISC1) L100P mutants have impaired activity-dependent plasticity in vivo and in vitro. ( 26756905 )
2016
14
Variations in Disrupted-in-Schizophrenia 1 gene modulate long-term longitudinal differences in cortical thickness in patients with a first-episode of psychosis. ( 26209938 )
2016
15
Opposing actions of the synapse-associated protein of 97-kDa molecular weight (SAP97) and Disrupted in Schizophrenia 1 (DISC1) on Wnt/I^-catenin signaling. ( 27026592 )
2016
16
Misassembly of full-length Disrupted-in-Schizophrenia 1 protein is linked to altered dopamine homeostasis and behavioral deficits. ( 26754951 )
2016
17
DISC1 a key molecular lead in psychiatry and neurodevelopment: No-More Disrupted-in-Schizophrenia 1. ( 27595595 )
2016
18
Beyond the brain: disrupted in schizophrenia 1 regulates pancreatic I^-cell function via glycogen synthase kinase-3I^. ( 26546129 )
2016
19
Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation. ( 27466199 )
2016
20
Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness. ( 26405049 )
2015
21
Disrupted-in-schizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity. ( 25821909 )
2015
22
Disrupted-in-schizophrenia 1 (DISC1) regulates dysbindin function by enhancing its stability. ( 25635053 )
2015
23
Role of disrupted in schizophrenia 1 (DISC1) in stress-induced prefrontal cognitive dysfunction. ( 24301646 )
2013
24
Revisiting disrupted-in-schizophrenia 1 as a scaffold protein. ( 23832957 )
2013
25
DISC1 (disrupted-in-schizophrenia 1) is associated with cortical grey matter volumes in the human brain: a voxel-based morphometry (VBM) study. ( 23140672 )
2013
26
Disrupted in Schizophrenia 1 forms pathological aggresomes that disrupt its function in intracellular transport. ( 22291444 )
2012
27
Association of Disrupted in Schizophrenia 1 (DISC1) missense variants with ultra-resistant schizophrenia. ( 20531374 )
2011
28
Evidence for association between Disrupted-in-Schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study. ( 21569632 )
2011
29
Limited association between Disrupted in Schizophrenia 1 (DISC1) gene and bipolar disorder in the Chinese population. ( 21222298 )
2011
30
Regulation of the cytoskeleton by Disrupted-in-schizophrenia 1 (DISC1). ( 21757008 )
2011
31
Disrupted-in-schizophrenia 1 (DISC1) plays essential roles in mitochondria in collaboration with Mitofilin. ( 20880836 )
2010
32
A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome. ( 20227423 )
2010
33
CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration. ( 20956536 )
2010
34
Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain. ( 18996920 )
2009
35
Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. ( 19303846 )
2009
36
Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses. ( 19251251 )
2009
37
Insolubility of disrupted-in-schizophrenia 1 disrupts oligomer-dependent interactions with nuclear distribution element 1 and is associated with sporadic mental disease. ( 18400883 )
2008
38
Association between a disrupted-in-schizophrenia 1 (DISC1) single nucleotide polymorphism and schizophrenia in a combined Scandinavian case-control sample. ( 18818052 )
2008
39
What can we learn from the disrupted in schizophrenia 1 interactome: lessons for target identification and disease biology? ( 18497105 )
2008
40
Disrupted in schizophrenia 1 genotype and positive symptoms in schizophrenia. ( 17054920 )
2007
41
Molecular mechanism of schizophrenia with reference to disrupted-in-schizophrenia 1 (DISC1). ( 17664024 )
2007
42
Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. ( 17043677 )
2007
43
Disrupted-In-Schizophrenia 1 regulates integration of newly generated neurons in the adult brain. ( 17825401 )
2007
44
Disrupted in schizophrenia 1 and phosphodiesterase 4B: towards an understanding of psychiatric illness. ( 17823207 )
2007
45
Disrupted in schizophrenia 1 (DISC1): subcellular targeting and induction of ring mitochondria. ( 16209927 )
2005
46
A functional link between Disrupted-In-Schizophrenia 1 and the eukaryotic translation initiation factor 3. ( 16243297 )
2005
47
Inhibition of NUDEL (nuclear distribution element-like)- oligopeptidase activity by disrupted-in-schizophrenia 1. ( 15728732 )
2005
48
A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder. ( 15940305 )
2005
49
Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders. ( 14962739 )
2004
50
Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria. ( 15121183 )
2004

Variations for Schizophrenia 1

Expression for Schizophrenia 1

Search GEO for disease gene expression data for Schizophrenia 1.

Pathways for Schizophrenia 1

Pathways related to Schizophrenia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 DTNBP1 GSK3B PAFAH1B1 PDE4B
2 10.42 GSK3B PAFAH1B1

GO Terms for Schizophrenia 1

Cellular components related to Schizophrenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 DISC1 PAFAH1B1 PCNT SPTBN4 SYNE1 TRAF3IP1
2 postsynaptic membrane GO:0045211 9.58 DISC1 DTNBP1 SYNE1
3 microtubule organizing center GO:0005815 9.56 CCDC141 DISC1 PAFAH1B1 PCNT
4 postsynaptic density GO:0014069 9.54 DISC1 DTNBP1 PDE4B
5 axon cytoplasm GO:1904115 9.43 DTNBP1 PAFAH1B1
6 ciliary base GO:0097546 9.32 DISC1 TRAF3IP1
7 axon GO:0030424 9.26 DTNBP1 GSK3B PAFAH1B1 SPTBN4
8 centrosome GO:0005813 9.1 DISC1 GSK3B PAFAH1B1 PCNT PDE4B TRAF3IP1

Biological processes related to Schizophrenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.33 DISC1 PAFAH1B1 PCNT
2 transmission of nerve impulse GO:0019226 9.32 PAFAH1B1 SPTBN4
3 negative regulation of protein complex assembly GO:0031333 9.26 GSK3B TRAF3IP1
4 negative regulation of protein binding GO:0032091 9.13 DISC1 DTNBP1 GSK3B
5 regulation of microtubule cytoskeleton organization GO:0070507 8.8 GSK3B PAFAH1B1 TRAF3IP1

Molecular functions related to Schizophrenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynactin binding GO:0034452 8.62 GSK3B PAFAH1B1

Sources for Schizophrenia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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