SCZD1
MCID: SCH079
MIFTS: 44

Schizophrenia 1 (SCZD1)

Categories: Ear diseases, 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 70
Schizophrenia Susceptibility Locus, Chromosome 5-Related 57 13
Sczd1 57 12
Schizophrenia 1 with or Without an Affective Disorder 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant form
most likely polygenic


HPO:

31
schizophrenia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070077
OMIM® 57 181510
MedGen 41 C0220702
UMLS 70 C0220702

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 lissencephaly 1 and schizoaffective disorder. An important gene associated with Schizophrenia 1 is SCZD1 (Schizophrenia Disorder 1), and among its related pathways/superpathways is Neuroscience. The drugs Fluvoxamine and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and kidney, and related phenotypes are frontal bossing and hypertelorism

More information from OMIM: 181510

Related Diseases for Schizophrenia 1

Diseases in the Schizophrenia family:

Schizophrenia 1 Schizophrenia 3
Schizophrenia 4 Schizophrenia 6
Schizophrenia 5 Schizophrenia 7
Schizophrenia 8 Schizophrenia 2
Schizophrenia 9 Schizophrenia 10
Schizophrenia 11 Schizophrenia 12
Schizophrenia 14 Schizophrenia 13
Schizophrenia 15 Schizophrenia 16
Schizophrenia 18 Schizophrenia 19
Early-Onset Schizophrenia

Diseases related to Schizophrenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 30.1 PAFAH1B1 FEZ1 DISC1
2 schizoaffective disorder 30.0 PRODH DTNBP1 DISC1
3 schizophrenia 9 29.9 PRODH DISC1
4 bipolar disorder 29.7 PRODH PDE4B PCNT NRG1 NDEL1 DTNBP1
5 schizophrenia 2 29.7 TSNAX-DISC1 PRODH DISC1
6 psychotic disorder 29.7 PRODH NRG1 DTNBP1 DISC1
7 schizophrenia 29.5 TSNAX-DISC1 SCZD1 PRODH PDE4B PCNT PAFAH1B1
8 schizophreniform disorder 29.4 PRODH NRG1 DTNBP1 DISC1
9 autism 28.8 TSNAX-DISC1 PRODH PDE4B NRG1 DTNBP1 DISC1
10 major affective disorder 9 10.3
11 major affective disorder 8 10.3
12 distal hereditary motor neuronopathy type 7 10.2 PAFAH1B1 NDEL1
13 neuronopathy, distal hereditary motor, type viib 10.2 PAFAH1B1 NDEL1
14 ocular hypotension 10.2 PDE4D PDE4B
15 miller-dieker lissencephaly syndrome 10.2 PAFAH1B1 NDEL1 DISC1
16 depression 10.1
17 schizoid personality disorder 10.1 PRODH DISC1
18 delusional disorder 10.0 PRODH DISC1
19 mental depression 10.0
20 lissencephaly 10.0
21 major depressive disorder 10.0
22 major affective disorder 1 10.0
23 congenital nervous system abnormality 9.9 PRODH PCNT PAFAH1B1 NDEL1
24 hermansky-pudlak syndrome 1 9.9 PRODH PDE4D DTNBP1
25 physical disorder 9.9 PRODH PCNT PAFAH1B1 NDEL1
26 mood disorder 9.9
27 neuroblastoma 9.9
28 asperger syndrome 9.9
29 schizotypal personality disorder 9.9 PRODH NRG1 DTNBP1 DISC1
30 velocardiofacial syndrome 9.8 PRODH NRG1 DTNBP1 DISC1
31 periventricular nodular heterotopia 9.8 PRODH PAFAH1B1 NDEL1
32 cannabis abuse 9.7 PRODH NRG1
33 telangiectasis 9.7
34 epilepsy 9.7
35 tic disorder 9.7
36 substance abuse 9.7
37 glioblastoma 9.7
38 temporal lobe epilepsy 9.7
39 dyslexia 9.7
40 chronic fatigue syndrome 9.7
41 postpartum depression 9.7
42 glucose intolerance 9.7
43 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.7
44 schizophrenia 5 9.7
45 ataxia and polyneuropathy, adult-onset 9.7
46 tardive dyskinesia 9.7
47 kohlschutter-tonz syndrome 9.7
48 ataxia-telangiectasia 9.7
49 alzheimer disease 9.7
50 disease of mental health 8.5 PRODH PDE4D PDE4B PCNT PAFAH1B1 NRG1

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



Diseases related to Schizophrenia 1

Symptoms & Phenotypes for Schizophrenia 1

Human phenotypes related to Schizophrenia 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 hypertelorism 31 HP:0000316
3 hallucinations 31 HP:0000738
4 short stature 31 HP:0004322
5 ectopic kidney 31 HP:0000086
6 protruding ear 31 HP:0000411
7 flat occiput 31 HP:0005469
8 schizophrenia 31 HP:0100753
9 renal agenesis 31 HP:0000104
10 syndactyly 31 HP:0001159
11 delusions 31 HP:0000746
12 partially duplicated kidney 31 HP:0008738
13 social and occupational deterioration 31 HP:0007086
14 short proximal phalanx of the 4th toe 31 HP:0100396

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head:
frontal bossing
hypertelorism
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
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Schizophrenia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CCDC141 DBN1 DISC1 DLG1 DTNBP1 FEZ1
2 nervous system MP:0003631 9.47 CCDC141 DBN1 DISC1 DLG1 DTNBP1 FEZ1

Drugs & Therapeutics for Schizophrenia 1

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluvoxamine Approved, Investigational 54739-18-3 3404 5324346
2
Olanzapine Approved, Investigational 132539-06-1 4585 135398745
3 Psychotropic Drugs
4 Neurotransmitter Agents
5 Serotonin Uptake Inhibitors
6 Anti-Anxiety Agents
7 Antidepressive Agents
8 Cytochrome P-450 Enzyme Inhibitors
9 Gastrointestinal Agents
10 Antiemetics
11 Antipsychotic Agents
12
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Fluvoxamine Augmentation on Cognitive Function , Aggressive Behavior , Clinical Symptoms and mRNA and Protein Expression in Human Peripheral Mononuclear Blood Cells (PMC) in Medicated Schizophrenia Patients Unknown status NCT01832285 fluvoxamine
2 Effects of Integrated Treatment for Chinese Patients With Schizophrenia: 1-year Follow-up Unknown status NCT02850445 Olanzapine

Search NIH Clinical Center for Schizophrenia 1

Genetic Tests for Schizophrenia 1

Anatomical Context for Schizophrenia 1

MalaCards organs/tissues related to Schizophrenia 1:

40
Brain, Cortex, Kidney, Prefrontal Cortex, Pituitary, Amygdala, Bone Marrow

Publications for Schizophrenia 1

Articles related to Schizophrenia 1:

(show top 50) (show all 611)
# Title Authors PMID Year
1
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. 57
16172613 2005
2
The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. 57
15793701 2005
3
Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. 57
14699422 2004
4
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. 57
12802786 2003
5
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. 57
11751686 2001
6
Absence of linkage for schizophrenia on the short arm of chromosome 5 in multiplex Canadian families. 57
9342193 1997
7
Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree. 57
8723043 1996
8
Association of schizophrenia and partial trisomy of chromosome 5p. A case report. 57
1515381 1992
9
Exclusion of a schizophrenia susceptibility gene from the chromosome 5q11-q13 region: new data and a reanalysis of previous reports. 57
2393025 1990
10
No evidence for linkage between chromosome 5 markers and schizophrenia. 57
2335365 1990
11
Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. 57
1967903 1990
12
Exclusion of linkage to 5q11-13 in families with schizophrenia and other psychiatric disorders. 57
2755489 1989
13
No linkage of chromosome 5q11-q13 markers to schizophrenia in Scottish families. 57
2725644 1989
14
Splitting schizophrenia. 57
2903447 1988
15
Evidence against linkage of schizophrenia to markers on chromosome 5 in a northern Swedish pedigree. 57
2903450 1988
16
Localization of a susceptibility locus for schizophrenia on chromosome 5. 57
2903449 1988
17
Partial trisomy chromosome 5 cosegregating with schizophrenia. 57
2895320 1988
18
Schizophrenia in a North Swedish geographical isolate, 1900--1977. Epidemiology, genetics and biochemistry. 57
83211 1978
19
Schizophrenia as a gene mutation. 57
13137881 1953
20
Structural interaction between DISC1 and ATF4 underlying transcriptional and synaptic dysregulation in an iPSC model of mental disorders. 61
31444471 2021
21
Clozapine treatment: Ensuring ongoing monitoring during the COVID-19 pandemic. 61
33759812 2021
22
Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation. 61
33658519 2021
23
Disc1 gene down-regulation impaired synaptic plasticity and recognition memory via disrupting neural activity in mice. 61
33745948 2021
24
Misdiagnosis, detection rate, and associated factors of severe psychiatric disorders in specialized psychiatry centers in Ethiopia. 61
33531016 2021
25
Behavioral Effects of Developmental Exposure to JWH-018 in Wild-Type and Disrupted in Schizophrenia 1 (disc1) Mutant Zebrafish. 61
33669793 2021
26
Disrupted-in-schizophrenia 1 enhances the quality of circadian rhythm by stabilizing BMAL1. 61
33542182 2021
27
Differential Methylation Pattern of Schizophrenia Candidate Genes in Tetrahydrocannabinol-Consuming Treatment-Resistant Schizophrenic Patients Compared to Non-Consumer Patients and Healthy Controls. 61
32599581 2021
28
Expression of Disrupted-in-schizophrenia 1 protein and related inflammatory factors in refractory temporal lobe epilepsy in children. 61
33550790 2021
29
Knock-Down of Hippocampal DISC1 in Immune-Challenged Mice Impairs the Prefrontal-Hippocampal Coupling and the Cognitive Performance Throughout Development. 61
33037815 2021
30
Identification and Mechanistic Characterization of a Peptide Inhibitor of Glycogen Synthase Kinase (GSK3β) Derived from the Disrupted in Schizophrenia 1 (DISC1) Protein. 61
33253521 2020
31
Imaging microstructure with diffusion and susceptibility MR: neuronal density correlation in Disrupted-in-Schizophrenia-1 mutant mice. 61
32627266 2020
32
Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia. 61
33008326 2020
33
Astrocyte DISC1 contributes to cognitive function in a brain region-dependent manner. 61
32803234 2020
34
Plasma β-Endorphin Concentration and Antipsychotic Treatment Outcome in Schizophrenia: 1-Year Follow-Up. 61
32892205 2020
35
The increased density of the habenular neurons, high impulsivity, aggression and resistant fear memory in Disc1-Q31L genetic mouse model of depression. 61
32422236 2020
36
The DISC1-Girdin complex - a missing link in signaling to the T cell cytoskeleton. 61
32482796 2020
37
Hispidulin attenuates the social withdrawal in isolated disrupted-in-schizophrenia-1 mutant and chronic phencyclidine-treated mice. 61
32133633 2020
38
Effect of aerobic exercise on cortical thickness in patients with schizophrenia-A dataset. 61
32395575 2020
39
The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity. 61
32493513 2020
40
The black sheep of the family- whole-exome sequencing in family of lithium response discordant bipolar monozygotic twins. 61
32305265 2020
41
Characterization of striatal phenotypes in heterozygous Disc1 mutant mice, a model of haploinsufficiency. 61
31721208 2020
42
Decreased nuclear distribution nudE-like 1 enzyme activity in an animal model with dysfunctional disrupted-in-schizophrenia 1 signaling featuring aberrant neurodevelopment and amphetamine-supersensitivity. 61
31916893 2020
43
Disruption of cellular proteostasis by H1N1 influenza A virus causes α-synuclein aggregation. 61
32152117 2020
44
Parvalbumin Interneuron Dysfunction in a Thalamo-Prefrontal Cortical Circuit in Disc1 Locus Impairment Mice. 61
32029441 2020
45
Prevention of Neurite Spine Loss Induced by Dopamine D2 Receptor Overactivation in Striatal Neurons. 61
32655360 2020
46
DISC1 Regulates Mitochondrial Trafficking in a Miro1-GTP-Dependent Manner. 61
32637409 2020
47
The Impact of Childhood Adversity on Cognitive Development in Schizophrenia. 61
31050754 2020
48
Disrupted in Schizophrenia 1 regulates the processing of reelin in the perinatal cortex. 61
28433501 2020
49
Family-Based Analysis Combined with Case-Controls Study Implicate Roles of PCNT in Tourette Syndrome. 61
32099372 2020
50
Assessing Reality Testing in Mice Through Dopamine-Dependent Associatively Evoked Processing of Absent Gustatory Stimuli. 61
31150554 2020

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 11.56 PDE4B PAFAH1B1 FEZ1 DTNBP1 DBN1

GO Terms for Schizophrenia 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TSNAX-DISC1 TRAF3IP1 PDE4DIP PDE4D PCNT PAFAH1B1
2 synapse GO:0045202 10.03 PAFAH1B1 NRG1 ITSN1 DTNBP1 DLG1 DISC1
3 perinuclear region of cytoplasm GO:0048471 9.99 PDE4D PDE4B PAFAH1B1 DLG1 DISC1 AKAP6
4 neuron projection GO:0043005 9.95 PAFAH1B1 ITSN1 DTNBP1 DLG1 CCDC141
5 cytoskeleton GO:0005856 9.9 TRAF3IP1 PDE4DIP PDE4D PCNT PAFAH1B1 NDEL1
6 glutamatergic synapse GO:0098978 9.88 NRG1 ITSN1 DTNBP1 DLG1 DBN1
7 axon GO:0030424 9.88 PAFAH1B1 NRG1 NDEL1 FEZ1 DTNBP1 DISC1
8 microtubule GO:0005874 9.85 PCNT PAFAH1B1 NDEL1 FEZ1 DLG1 DISC1
9 nuclear envelope GO:0005635 9.83 PAFAH1B1 NDEL1 ITSN1 AKAP6
10 postsynaptic density GO:0014069 9.83 PDE4B DTNBP1 DLG1 DISC1 DBN1
11 growth cone GO:0030426 9.76 PAFAH1B1 FEZ1 DTNBP1 DBN1
12 axon cytoplasm GO:1904115 9.71 PAFAH1B1 NDEL1 DTNBP1
13 kinesin complex GO:0005871 9.67 PAFAH1B1 NDEL1 DISC1
14 microtubule organizing center GO:0005815 9.56 PDE4DIP PDE4D PCNT PAFAH1B1 NDEL1 FEZ1
15 central region of growth cone GO:0090724 9.43 PAFAH1B1 NDEL1 DISC1
16 centrosome GO:0005813 9.28 TRAF3IP1 PDE4DIP PDE4B PCNT PAFAH1B1 NDEL1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.73 PAFAH1B1 NDEL1 DISC1
2 nervous system development GO:0007399 9.7 PAFAH1B1 NRG1 NDEL1 KALRN FEZ1 DISC1
3 microtubule cytoskeleton organization GO:0000226 9.67 PCNT PAFAH1B1 NDEL1 DISC1
4 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.59 PDE4D AKAP6
5 centrosome localization GO:0051642 9.58 NDEL1 CCDC141
6 positive regulation of calcineurin-NFAT signaling cascade GO:0070886 9.58 NRG1 AKAP6
7 vesicle transport along microtubule GO:0047496 9.57 PAFAH1B1 NDEL1
8 regulation of cardiac muscle cell contraction GO:0086004 9.55 PDE4D PDE4B
9 cellular response to epinephrine stimulus GO:0071872 9.54 PDE4D PDE4B
10 retrograde axonal transport GO:0008090 9.52 PAFAH1B1 NDEL1
11 cAMP catabolic process GO:0006198 9.51 PDE4D PDE4B
12 establishment of centrosome localization GO:0051660 9.49 PAFAH1B1 DLG1
13 astral microtubule organization GO:0030953 9.48 PDE4DIP DLG1
14 regulation of microtubule motor activity GO:2000574 9.46 PAFAH1B1 NDEL1
15 nuclear envelope disassembly GO:0051081 9.43 PAFAH1B1 NDEL1
16 positive regulation of dendritic spine morphogenesis GO:0061003 9.43 PAFAH1B1 KALRN DBN1
17 cortical microtubule organization GO:0043622 9.4 PAFAH1B1 DLG1
18 negative regulation of relaxation of cardiac muscle GO:1901898 9.32 PDE4D PDE4B
19 cerebral cortex radially oriented cell migration GO:0021799 9.13 NDEL1 DISC1 CCDC141
20 positive regulation of axon extension GO:0045773 8.92 PAFAH1B1 NDEL1 DISC1 DBN1

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

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 9.26 PDE4D PDE4B
2 ion channel binding GO:0044325 9.26 PDE4D PDE4B DLG1 AKAP6
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.16 PDE4D PDE4B
4 molecular adaptor activity GO:0060090 9.1 PDE4DIP PCNT ITSN1 DLG1 DISC1 AKAP6

Sources for Schizophrenia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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