SCZD1
MCID: SCH079
MIFTS: 46

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 56 12 15 71
Schizophrenia Susceptibility Locus, Chromosome 5-Related 56 13
Sczd1 56 12
Schizophrenia 1 with or Without an Affective Disorder 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form
most likely polygenic


HPO:

31
schizophrenia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070077
OMIM 56 181510
MedGen 41 C0220702
UMLS 71 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 are Cytoskeletal Signaling and Neuroscience. The drugs Aripiprazole and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and cortex, and related phenotypes are hypertelorism and hallucinations

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 33)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 30.1 PAFAH1B1 FEZ1 DISC1
2 schizoaffective disorder 29.6 DTNBP1 DISC1 DAOA
3 schizophrenia 2 29.5 TSNAX-DISC1 DISC1
4 psychotic disorder 29.4 NRG1 DTNBP1 DISC1 DAOA
5 bipolar disorder 28.9 PDE4B PCNT NRG1 NDEL1 GSK3B DTNBP1
6 schizophrenia 28.5 TSNAX-DISC1 SPTAN1 SCZD1 PDE4B PCNT PAFAH1B1
7 alzheimer disease 14 10.3 PAFAH1B1 GSK3B
8 distal hereditary motor neuronopathy type 7 10.3 PAFAH1B1 NDEL1
9 major affective disorder 8 10.2
10 major affective disorder 9 10.2
11 congenital nervous system abnormality 10.2 PCNT PAFAH1B1 NDEL1
12 schizophreniform disorder 10.1 NRG1 DTNBP1 DISC1
13 depression 10.1
14 neuronopathy, distal hereditary motor, type viib 10.1 PAFAH1B1 NDEL1
15 physical disorder 10.1 PCNT PAFAH1B1 NDEL1
16 major depressive disorder 9.9
17 mental depression 9.9
18 cyclothymic disorder 9.9 DISC1 DAOA
19 major affective disorder 1 9.8
20 asperger syndrome 9.8
21 lissencephaly 9.8
22 neuroblastoma 9.8
23 schizotypal personality disorder 9.7 NRG1 DTNBP1 DISC1 DAOA
24 autism 9.7
25 kohlschutter-tonz syndrome 9.7
26 schizophrenia 5 9.7
27 schizophrenia 9 9.7
28 glucose intolerance 9.7
29 glioblastoma multiforme 9.7
30 mood disorder 9.7
31 dyslexia 9.7
32 chronic fatigue syndrome 9.7
33 postpartum depression 9.7

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 hypertelorism 31 HP:0000316
2 hallucinations 31 HP:0000738
3 short stature 31 HP:0004322
4 frontal bossing 31 HP:0002007
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:

56
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
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

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 9.17 DISC1 FEZ1 GSK3B NDEL1 PAFAH1B1 PCNT

MGI Mouse Phenotypes related to Schizophrenia 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.44 DBN1 DISC1 DTNBP1 FEZ1 GSK3B ITSN1

Drugs & Therapeutics for Schizophrenia 1

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
4
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
5 Dopamine Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Dopamine agonists Phase 4
8 Dopamine Antagonists Phase 4
9 Antidepressive Agents Phase 4
10 Psychotropic Drugs Phase 4
11 Serotonin Receptor Agonists Phase 4
12 Serotonin 5-HT1 Receptor Agonists Phase 4
13 Antipsychotic Agents Phase 4
14 Respiratory System Agents Phase 4
15 Anti-Infective Agents Phase 4
16 Antidotes Phase 4
17 Antioxidants Phase 4
18 Antiviral Agents Phase 4
19 Expectorants Phase 4
20 N-monoacetylcystine Phase 4
21 Protective Agents Phase 4
22
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
23
Brexpiprazole Approved, Investigational Phase 3 913611-97-9 11978813
24
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
25
Kynurenic acid Investigational Phase 2, Phase 3 492-27-3 3845
26
Olanzapine Approved, Investigational 132539-06-1 4585
27
Nicotinamide Approved, Investigational 98-92-0 936
28
Fluvoxamine Approved, Investigational 54739-18-3 3404 5324346
29
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
30 Antiemetics
31 Serotonin Uptake Inhibitors
32 Gastrointestinal Agents
33 Catechol
34 Nicotinic Acids
35 Vitamin B3
36 Cytochrome P-450 Enzyme Inhibitors
37 Anti-Anxiety Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Post Marketing Clinical Study of Aripiprazole in Patients With Schizophrenia - Effects on Glucose Metabolism- Completed NCT00392197 Phase 4 Aripiprazole
2 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
3 Interventional, Open-label, Flexible-dose Extension Study of Brexpiprazole in Patients With Schizophrenia Completed NCT01810783 Phase 3 Brexpiprazole
4 Risperidone Depot (Microspheres) vs. Placebo in the Treatment of Subjects With Schizophrenia Completed NCT00253136 Phase 3 risperidone
5 Neuroimaging of Tryptophan Challenge in People With Schizophrenia and Healthy Controls Completed NCT02067975 Phase 2, Phase 3 Tryptophan;Placebo
6 A 10-week, Randomized, Double-Blind, Placebo-Controlled Trial of a Neurocognition Enhancing Agent(Pregnenolone) in Patients With Schizophrenia. Completed NCT00894842 Phase 2, Phase 3 Pregnenolone;Placebo
7 "MADOCS: Manual Dexterity and Oculomotor Control as Vulnerability Markers in Schizophrenia" Unknown status NCT02826629
8 Effects of Integrated Treatment for Chinese Patients With Schizophrenia: 1-year Follow-up Unknown status NCT02850445 Olanzapine
9 A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations Unknown status NCT01075373
10 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
11 A Study on Psychopathological Progress of Early Schizophrenia-Like Disorder (SOPRES) Unknown status NCT00173069
12 Shiatsu Adjuvant Therapy for Hospitalized Psychiatric Patients: an Open Pilot Study Completed NCT00425399
13 A Positional Cloning Study on Schizophrenia Completed NCT00155649
14 Preliminary Validation of the RC2S+ Therapy in Schizophrenia Recruiting NCT02976077

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, Kidney, Cortex, Prefrontal Cortex, Testes, Pituitary, Amygdala

Publications for Schizophrenia 1

Articles related to Schizophrenia 1:

(show top 50) (show all 596)
# Title Authors PMID Year
1
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. 56
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. 56
15793701 2005
3
Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. 56
14699422 2004
4
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. 56
12802786 2003
5
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. 56
11751686 2001
6
Absence of linkage for schizophrenia on the short arm of chromosome 5 in multiplex Canadian families. 56
9342193 1997
7
Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree. 56
8723043 1996
8
Association of schizophrenia and partial trisomy of chromosome 5p. A case report. 56
1515381 1992
9
Exclusion of a schizophrenia susceptibility gene from the chromosome 5q11-q13 region: new data and a reanalysis of previous reports. 56
2393025 1990
10
No evidence for linkage between chromosome 5 markers and schizophrenia. 56
2335365 1990
11
Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. 56
1967903 1990
12
Exclusion of linkage to 5q11-13 in families with schizophrenia and other psychiatric disorders. 56
2755489 1989
13
No linkage of chromosome 5q11-q13 markers to schizophrenia in Scottish families. 56
2725644 1989
14
Splitting schizophrenia. 56
2903447 1988
15
Localization of a susceptibility locus for schizophrenia on chromosome 5. 56
2903449 1988
16
Evidence against linkage of schizophrenia to markers on chromosome 5 in a northern Swedish pedigree. 56
2903450 1988
17
Partial trisomy chromosome 5 cosegregating with schizophrenia. 56
2895320 1988
18
Schizophrenia in a North Swedish geographical isolate, 1900--1977. Epidemiology, genetics and biochemistry. 56
83211 1978
19
Schizophrenia as a gene mutation. 56
13137881 1953
20
Hispidulin attenuates the social withdrawal in isolated disrupted-in-schizophrenia-1 mutant and chronic phencyclidine-treated mice. 61
32133633 2020
21
Effect of aerobic exercise on cortical thickness in patients with schizophrenia-A dataset. 61
32395575 2020
22
The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity. 61
32493513 2020
23
The DISC1-Girdin complex: a missing link in signaling to the T cell cytoskeleton. 61
32482796 2020
24
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
25
The black sheep of the family- whole-exome sequencing in family of lithium response discordant bipolar monozygotic twins. 61
32305265 2020
26
Characterization of striatal phenotypes in heterozygous Disc1 mutant mice, a model of haploinsufficiency. 61
31721208 2020
27
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
28
Disruption of cellular proteostasis by H1N1 influenza A virus causes α-synuclein aggregation. 61
32152117 2020
29
Parvalbumin Interneuron Dysfunction in a Thalamo-Prefrontal Cortical Circuit in Disc1 Locus Impairment Mice. 61
32029441 2020
30
Assessing Reality Testing in Mice Through Dopamine-Dependent Associatively Evoked Processing of Absent Gustatory Stimuli. 61
31150554 2020
31
Estradiol reverses excitatory synapse loss in a cellular model of neuropsychiatric disorders. 61
32066698 2020
32
Disrupted in Schizophrenia 1 regulates the processing of reelin in the perinatal cortex. 61
28433501 2020
33
Family-Based Analysis Combined with Case-Controls Study Implicate Roles of PCNT in Tourette Syndrome. 61
32099372 2020
34
The Impact of Childhood Adversity on Cognitive Development in Schizophrenia. 61
31050754 2020
35
Disrupted-in-schizophrenia 1 functional polymorphisms and D2 /D3 receptor availability: A [11 C]-(+)-PHNO imaging study. 61
31264367 2019
36
Disorder Mediated Oligomerization of DISC1 Proteins Revealed by Coarse-Grained Molecular Dynamics Simulations. 61
31614085 2019
37
Dopamine D1 Receptor (D1R) Expression Is Controlled by a Transcriptional Repressor Complex Containing DISC1. 61
30915712 2019
38
Suicide ideation, suicide attempts, their sociodemographic and clinical associates among the elderly Chinese patients with schizophrenia spectrum disorders. 61
31299442 2019
39
Disrupted-in-schizophrenia 1 overexpression disrupts hippocampal coding and oscillatory synchronization. 61
30723982 2019
40
The transcriptome landscape associated with Disrupted-in-Schizophrenia-1 locus impairment in early development and adulthood. 61
31204062 2019
41
Interplay between a Mental Disorder Risk Gene and Developmental Polarity Switch of GABA Action Leads to Excitation-Inhibition Imbalance. 61
31390557 2019
42
Structural interaction between DISC1 and ATF4 underlying transcriptional and synaptic dysregulation in an iPSC model of mental disorders. 61
31444471 2019
43
Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia. 61
30976040 2019
44
Kinase network dysregulation in a human induced pluripotent stem cell model of DISC1 schizophrenia. 61
31106784 2019
45
Cerebrospinal fluid markers of inflammation and infections in schizophrenia and affective disorders: a systematic review and meta-analysis. 61
30116031 2019
46
DISC1 promotes translation maintenance during sodium arsenite-induced oxidative stress. 61
31075539 2019
47
Aripiprazole and haloperidol protect neurite lesions via reducing excessive D2R-DISC1 complex formation. 61
30597182 2019
48
Neurogenesis in the adult hippocampus: history, regulation, and prospective roles. 61
30433866 2019
49
Adolescent Δ9-Tetrahydrocannabinol Exposure and Astrocyte-Specific Genetic Vulnerability Converge on Nuclear Factor-κB-Cyclooxygenase-2 Signaling to Impair Memory in Adulthood. 61
30219209 2019
50
An in-silico approach for discovery of microRNA-TF regulation of DISC1 interactome mediating neuronal migration. 61
32372023 2019

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 11.75 SPTAN1 PAFAH1B1 FEZ1 DBN1
2 11.63 PDE4B PAFAH1B1 GSK3B FEZ1 DTNBP1 DBN1

GO Terms for Schizophrenia 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 TRAF3IP1 SPTAN1 PDE4DIP PDE4D PCNT PAFAH1B1
2 axon GO:0030424 9.87 PAFAH1B1 NRG1 NDEL1 GSK3B FEZ1 DTNBP1
3 glutamatergic synapse GO:0098978 9.85 NRG1 ITSN1 GSK3B DTNBP1 DBN1
4 postsynaptic density GO:0014069 9.83 PDE4B DTNBP1 DISC1 DBN1
5 microtubule GO:0005874 9.83 PCNT PAFAH1B1 NDEL1 FEZ1 DISC1
6 nuclear envelope GO:0005635 9.81 PAFAH1B1 NDEL1 ITSN1 AKAP6
7 microtubule organizing center GO:0005815 9.8 PDE4DIP PDE4D PCNT PAFAH1B1 NDEL1 FEZ1
8 growth cone GO:0030426 9.71 PAFAH1B1 FEZ1 DTNBP1 DBN1
9 cytoskeleton GO:0005856 9.7 TRAF3IP1 SPTAN1 PDE4DIP PDE4D PCNT PAFAH1B1
10 axon cytoplasm GO:1904115 9.67 PAFAH1B1 NDEL1 DTNBP1
11 kinesin complex GO:0005871 9.65 PAFAH1B1 NDEL1 DISC1
12 central region of growth cone GO:0090724 9.33 PAFAH1B1 NDEL1 DISC1
13 centrosome GO:0005813 9.32 TRAF3IP1 PDE4DIP PDE4D PDE4B PCNT PAFAH1B1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.78 NDEL1 GSK3B DTNBP1
2 neuron migration GO:0001764 9.77 PAFAH1B1 NDEL1 DISC1
3 microtubule cytoskeleton organization GO:0000226 9.71 PCNT PAFAH1B1 NDEL1 DISC1
4 negative regulation of protein binding GO:0032091 9.69 GSK3B DTNBP1 DISC1
5 hippocampus development GO:0021766 9.65 PAFAH1B1 GSK3B FEZ1
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.6 PDE4D AKAP6
7 vesicle transport along microtubule GO:0047496 9.58 PAFAH1B1 NDEL1
8 positive regulation of calcineurin-NFAT signaling cascade GO:0070886 9.58 NRG1 AKAP6
9 positive regulation of interleukin-2 production GO:0032743 9.57 PDE4D PDE4B
10 regulation of cardiac muscle cell contraction GO:0086004 9.56 PDE4D PDE4B
11 cellular response to epinephrine stimulus GO:0071872 9.55 PDE4D PDE4B
12 retrograde axonal transport GO:0008090 9.54 PAFAH1B1 NDEL1
13 regulation of neuron projection development GO:0010975 9.54 NDEL1 GSK3B DISC1
14 cAMP catabolic process GO:0006198 9.52 PDE4D PDE4B
15 regulation of microtubule cytoskeleton organization GO:0070507 9.5 TRAF3IP1 PAFAH1B1 GSK3B
16 cerebral cortex radially oriented cell migration GO:0021799 9.49 NDEL1 DISC1
17 regulation of microtubule motor activity GO:2000574 9.46 PAFAH1B1 NDEL1
18 nuclear envelope disassembly GO:0051081 9.43 PAFAH1B1 NDEL1
19 positive regulation of dendritic spine morphogenesis GO:0061003 9.33 PAFAH1B1 KALRN DBN1
20 negative regulation of relaxation of cardiac muscle GO:1901898 9.26 PDE4D PDE4B
21 positive regulation of axon extension GO:0045773 9.26 PAFAH1B1 NDEL1 DISC1 DBN1
22 nervous system development GO:0007399 9.23 PAFAH1B1 NRG1 NDEL1 KALRN GSK3B FEZ1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.43 PDE4D PDE4B AKAP6
2 cAMP binding GO:0030552 9.32 PDE4D PDE4B
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.16 PDE4D PDE4B
4 molecular adaptor activity GO:0060090 9.02 PDE4DIP PCNT ITSN1 DISC1 AKAP6
5 dynactin binding GO:0034452 8.96 PAFAH1B1 GSK3B

Sources for Schizophrenia 1

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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