SCZD1
MCID: SCH079
MIFTS: 48

Schizophrenia 1 (SCZD1)

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

Aliases & Classifications for Schizophrenia 1

MalaCards integrated aliases for Schizophrenia 1:

Name: Schizophrenia 1 57 12 15 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 Organelle biogenesis and maintenance and Circadian rythm related genes. The drugs Fluvoxamine and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and cortex, and related phenotypes are hypertelorism and frontal bossing

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

G U:
renal anomalies
absent kidney
small phallus
partially duplicated displaced kidney

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

Neuro:
hallucinations
schizophrenia
social and occupational deterioration
delusions
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 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 frontal bossing 32 HP:0002007
3 hallucinations 32 HP:0000738
4 short stature 32 HP:0004322
5 ectopic kidney 32 HP:0000086
6 protruding ear 32 HP:0000411
7 schizophrenia 32 HP:0100753
8 flat occiput 32 HP:0005469
9 social and occupational deterioration 32 HP:0007086
10 renal agenesis 32 HP:0000104
11 delusions 32 HP:0000746
12 syndactyly 32 HP:0001159
13 partially duplicated kidney 32 HP:0008738
14 short proximal phalanx of the 4th toe 32 HP:0100396

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 MAP1A PAFAH1B1 PCNT

MGI Mouse Phenotypes related to Schizophrenia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ATF5 CEP63 DISC1 DTNBP1 GSK3B MAP1A
2 nervous system MP:0003631 9.32 ATF4 ATF5 CEP63 DISC1 DTNBP1 GSK3B

Drugs & Therapeutics for Schizophrenia 1

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluvoxamine Approved, Investigational Not Applicable 54739-18-3 3404 5324346
2
Nicotinamide Approved, Investigational 98-92-0 936
3
Dopamine Approved 51-61-6, 62-31-7 681
4
Aripiprazole Approved, Investigational 129722-12-9 60795
5
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
6 Psychotropic Drugs Not Applicable
7 Cytochrome P-450 CYP2C19 Inhibitors Not Applicable
8 Antidepressive Agents Not Applicable
9 Antidepressive Agents, Second-Generation Not Applicable
10 Cytochrome P-450 Enzyme Inhibitors Not Applicable
11 Tranquilizing Agents Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Central Nervous System Depressants Not Applicable
14 Neurotransmitter Uptake Inhibitors Not Applicable
15 Serotonin Agents Not Applicable
16 Cytochrome P-450 CYP1A2 Inhibitors Not Applicable
17 Serotonin Uptake Inhibitors Not Applicable
18 Anti-Anxiety Agents Not Applicable
19 Nicotinic Acids
20 Dopamine Agents
21 Vitamin B3
22 Catechol
23
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

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, Pituitary, Prefrontal Cortex

Publications for Schizophrenia 1

Articles related to Schizophrenia 1:

(show top 50) (show all 122)
# 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 protects synaptic plasticity in a transgenic mouse model of Alzheimer's disease as a mitophagy receptor. ( 30488644 )
2018
6
Neuronal serine racemase associates with Disrupted-In-Schizophrenia-1 and DISC1 agglomerates: Implications for schizophrenia. ( 30391323 )
2018
7
Association study of Disrupted-In-Schizophrenia-1 gene variants and tardive dyskinesia. ( 30118782 )
2018
8
Disrupted-in-Schizophrenia-1 is essential for normal hypothalamic-pituitary-interrenal (HPI) axis function. ( 28334933 )
2017
9
Caveolin-1 regulation of disrupted-in-schizophrenia-1 as a potential therapeutic target for schizophrenia. ( 27832597 )
2017
10
Disrupted in Schizophrenia 1 regulates the processing of reelin in the perinatal cortex. ( 28433501 )
2017
11
Disrupted-in-Schizophrenia-1 (DISC1) protein disturbs neural function in multiple disease-risk pathways. ( 28472294 )
2017
12
Transfer of disrupted-in-schizophrenia 1 aggregates between neuronal-like cells occurs in tunnelling nanotubes and is promoted by dopamine. ( 28275106 )
2017
13
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
14
The impact of Disrupted-in-Schizophrenia 1 (DISC1) on the dopaminergic system: a systematic review. ( 28140405 )
2017
15
Expression of Disrupted-in-schizophrenia 1 in Hippocampus in Postpartum Depression Animal Models Induced by Pre-pregnancy Stress. ( 28483022 )
2017
16
Disrupted in schizophrenia 1 (DISC1) inhibits glioblastoma development by regulating mitochondria dynamics. ( 27852062 )
2016
17
Disrupted-in-Schizophrenia-1 Attenuates Amyloid-I^ Generation and Cognitive Deficits in APP/PS1 Transgenic Mice by Reduction of I^-Site APP-Cleaving Enzyme 1 Levels. ( 26062786 )
2016
18
Disrupted-in-schizophrenia-1 as a broader link of glutamatergic transmission to schizophrenia impacts cerebral neurochemistry via the production of the 'gliotransmitter' d-serine, a NMDA receptor coagonist. ( 27501180 )
2016
19
Altered Disrupted-in-Schizophrenia-1 Function Affects the Development of Cortical Parvalbumin Interneurons by an Indirect Mechanism. ( 27244370 )
2016
20
Disrupted-in-schizophrenia 1 (DISC1) and Syntaphilin collaborate to modulate axonal mitochondrial anchoring. ( 27370822 )
2016
21
Hypoxic preconditioning decreases nuclear factor I_B activity via Disrupted in Schizophrenia-1. ( 26615762 )
2016
22
Misassembly of non-mutant full-length Disrupted-in-Schizophrenia 1 protein is induced by dopamine in vitro and in vivo. ( 27756909 )
2016
23
Disrupted in schizophrenia 1 (DISC1) L100P mutants have impaired activity-dependent plasticity in vivo and in vitro. ( 26756905 )
2016
24
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
25
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
26
Misassembly of full-length Disrupted-in-Schizophrenia 1 protein is linked to altered dopamine homeostasis and behavioral deficits. ( 26754951 )
2016
27
DISC1 a key molecular lead in psychiatry and neurodevelopment: No-More Disrupted-in-Schizophrenia 1. ( 27595595 )
2016
28
Beyond the brain: disrupted in schizophrenia 1 regulates pancreatic I^-cell function via glycogen synthase kinase-3I^. ( 26546129 )
2016
29
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
30
Uncovering the function of Disrupted in Schizophrenia 1 through interactions with the cAMP phosphodiesterase PDE4: Contributions of the Houslay lab to molecular psychiatry. ( 26432168 )
2016
31
Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness. ( 26405049 )
2015
32
The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain neurodevelopmental markers in schizophrenia and healthy subjects. ( 25092219 )
2015
33
Disrupted-in-schizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity. ( 25821909 )
2015
34
Disrupted-in-schizophrenia 1 (DISC1) regulates dysbindin function by enhancing its stability. ( 25635053 )
2015
35
Disrupted-in-schizophrenia-1 (DISC1) Regulates Endoplasmic Reticulum Calcium Dynamics. ( 25732993 )
2015
36
Quantitative Multi-modal Brain Autoradiography of Glutamatergic, Dopaminergic, Cannabinoid, and Nicotinic Receptors in Mutant Disrupted-In-Schizophrenia-1 (DISC1) Mice. ( 25296765 )
2015
37
Disrupted-in-Schizophrenia-1 SNPs and Susceptibility to Schizophrenia: Evidence from Malaysia. ( 25670952 )
2015
38
Altered functional brain network connectivity and glutamate system function in transgenic mice expressing truncated Disrupted-in-Schizophrenia 1. ( 25989143 )
2015
39
Hippocampal place cell and inhibitory neuron activity in Disrupted-in-schizophrenia-1 mutant mice: implications for working memory deficits. ( 27280123 )
2015
40
Hippocampal place cell and inhibitory neuron activity in disrupted-in-schizophrenia-1 mutant mice: implications for working memory deficits. ( 27336029 )
2015
41
Disrupted-In-Schizophrenia-1 (DISC1) interactome and mental disorders: impact of mouse models. ( 25016072 )
2014
42
Regulation of N-methyl-D-aspartate receptors by disrupted-in-schizophrenia-1. ( 23906531 )
2014
43
Neurocognitive functioning in patients with first-episode schizophrenia 1 year from onset in comparison with patients 5 years from onset. ( 24047425 )
2014
44
DISC1 (disrupted-in-schizophrenia-1) regulates differentiation of oligodendrocytes. ( 24516667 )
2014
45
Disrupted in schizophrenia 1 modulates medial prefrontal cortex pyramidal neuron activity through cAMP regulation of transient receptor potential C and small-conductance K+ channels. ( 24560582 )
2014
46
Disrupted in schizophrenia 1 and synaptic function in the mammalian central nervous system. ( 24712987 )
2014
47
Neurophysiological modification of CA1 pyramidal neurons in a transgenic mouse expressing a truncated form of disrupted-in-schizophrenia 1. ( 24712988 )
2014
48
A Disrupted-in-Schizophrenia 1 Gene Variant is Associated with Clinical Symptomatology in Patients with First-Episode Psychosis. ( 24843375 )
2014
49
Mutant disrupted-in-schizophrenia 1 in astrocytes: focus on glutamate metabolism. ( 25131692 )
2014
50
Effects of the adverse life events and Disrupted in Schizophrenia-1 (DISC1) gene polymorphisms on acute symptoms of schizophrenia. ( 23347445 )
2013

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
Show member pathways
12.18 CEP63 PAFAH1B1 PCNT TRAF3IP1
3 11.46 DTNBP1 GSK3B PAFAH1B1 PDE4B
4 10.42 GSK3B PAFAH1B1

GO Terms for Schizophrenia 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.76 ATF4 ATF5 CEP63 DISC1 MAP1A PAFAH1B1
2 neuron projection GO:0043005 9.73 ATF4 DTNBP1 MAP1A PAFAH1B1
3 axon GO:0030424 9.71 DTNBP1 GSK3B MAP1A PAFAH1B1
4 microtubule GO:0005874 9.67 DISC1 MAP1A PAFAH1B1 PCNT
5 ciliary base GO:0097546 9.49 DISC1 TRAF3IP1
6 microtubule associated complex GO:0005875 9.48 MAP1A PAFAH1B1
7 axon cytoplasm GO:1904115 9.43 DTNBP1 MAP1A PAFAH1B1
8 microtubule organizing center GO:0005815 9.43 ATF4 ATF5 CEP63 DISC1 PAFAH1B1 PCNT
9 centrosome GO:0005813 9.28 ATF4 ATF5 CEP63 DISC1 GSK3B PAFAH1B1
10 cytosol GO:0005829 10.16 ATF5 CEP63 DTNBP1 EIF3H GSK3B MAP1A
11 cytoplasm GO:0005737 10.1 ATF4 ATF5 CEP63 DISC1 DTNBP1 EIF3H

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

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.58 CEP63 PAFAH1B1 PCNT
2 ciliary basal body-plasma membrane docking GO:0097711 9.54 CEP63 PAFAH1B1 PCNT
3 circadian rhythm GO:0007623 9.5 ATF4 ATF5 GSK3B
4 negative regulation of protein complex assembly GO:0031333 9.43 GSK3B TRAF3IP1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 CEP63 PAFAH1B1 PCNT
6 negative regulation of protein binding GO:0032091 9.33 DISC1 DTNBP1 GSK3B
7 regulation of microtubule cytoskeleton organization GO:0070507 9.13 GSK3B PAFAH1B1 TRAF3IP1
8 microtubule cytoskeleton organization GO:0000226 8.92 DISC1 MAP1A PAFAH1B1 PCNT

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 ATF4 ATF5 CEP63 DISC1 DTNBP1 EIF3H
2 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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