SCZD4
MCID: SCH051
MIFTS: 36

Schizophrenia 4 (SCZD4)

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

Aliases & Classifications for Schizophrenia 4

MalaCards integrated aliases for Schizophrenia 4:

Name: Schizophrenia 4 56 12 73 29 6 15 71
Sczd4 56 12 73
Schizophrenia, Susceptibility to, 4 56 13
Schizophrenia Susceptibility Locus, Chromosome 22q11-Related 56
Schizophrenia Susceptibility Locus Chromosome 22-Related 73
Schizophrenia, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant (22q11)


HPO:

31
schizophrenia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070080
OMIM 56 600850
MeSH 43 D012559
MedGen 41 C1833247
SNOMED-CT via HPO 68 191526005 263681008 58214004
UMLS 71 C1833247

Summaries for Schizophrenia 4

UniProtKB/Swiss-Prot : 73 Schizophrenia 4: 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 4, also known as sczd4, is related to disease of mental health and schizophrenia. An important gene associated with Schizophrenia 4 is PRODH (Proline Dehydrogenase 1). The drugs Dopamine and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are abnormality of metabolism/homeostasis and schizophrenia

Disease Ontology : 12 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.

More information from OMIM: 600850

Related Diseases for Schizophrenia 4

Symptoms & Phenotypes for Schizophrenia 4

Human phenotypes related to Schizophrenia 4:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 schizophrenia 31 HP:0100753

Symptoms via clinical synopsis from OMIM:

56
Neuro:
schizophrenia susceptibility

Lab:
interstitial deletion of 22q11

Clinical features from OMIM:

600850

GenomeRNAi Phenotypes related to Schizophrenia 4 according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.55 PRODH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.55 PRODH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.55 PAPPA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.55 PAPPA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.55 PRODH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.55 PAPPA2 PRODH
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.55 PRODH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.55 PRODH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 PRODH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.55 PRODH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.55 PRODH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.55 PAPPA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.55 PRODH
14 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.55 PAPPA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.55 PRODH
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 PRODH

MGI Mouse Phenotypes related to Schizophrenia 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 PAPPA2 POU3F3 PRODH SYN3

Drugs & Therapeutics for Schizophrenia 4

Drugs for Schizophrenia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
3
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
4 Antipsychotic Agents Phase 3
5 Neurotransmitter Agents Phase 3
6 Serotonin Uptake Inhibitors Phase 3
7 Tranquilizing Agents Phase 3
8 Antiemetics Phase 3
9 Gastrointestinal Agents Phase 3
10 Dopamine Antagonists Phase 3
11 Dopamine Agents Phase 3
12 Psychotropic Drugs Phase 3
13 Serotonin Agents Phase 3
14 Autonomic Agents Phase 3
15 Central Nervous System Depressants Phase 3
16 Serotonin Antagonists Phase 3
17
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
18
Nicotinamide Approved, Investigational 98-92-0 936
19
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
20
Chlorpromazine Approved, Investigational, Vet_approved 50-53-3 2726
21
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
22 Vitamin B3
23 Nicotinic Acids
24 Acidophilus
25 Bifidobacterium
26 Chlorpheniramine, phenylpropanolamine drug combination

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Interventional, Randomised, Double-blind, Active-controlled, Fixed-dose Study of Lu AF35700 in Patients With Treatment-resistant Schizophrenia Completed NCT02717195 Phase 3 Risperidone;Olanzapine;Lu AF35700;Lu AF35700
2 A Culturally Based Family Therapy for Schizophrenia Completed NCT00356317 Phase 2
3 A Randomised, Double-blind, Placebo-controlled Study of the Safety, Pharmacokinetics and Exploratory Pharmacodynamics of AUT00206 for 28 Days as Adjunctive Therapy in Patients With Recently Diagnosed Schizophrenia Completed NCT03164876 Phase 1 AUT00206;Placebo
4 9 wk, Randomized, 2-blind, Placebo-controlled, 2X2 Cross-over Phase 1 Study of 25 mg of Scelectium Tortuosum (as Zembrin®) in Aged Normals to Find Effects on Mental, Emotional and Cognitive Safety Measures and Cytokines. Completed NCT01805518 Phase 1
5 Expanding Rapid Ascertainment Networks of Schizophrenia Families in Taiwan Unknown status NCT01077687
6 A Multi-Site Study of Strategies for Implementing Schizophrenia Guidelines Completed NCT00013000
7 A Psychopathological Study of Latent (Early) Schizophrenia: Clinical Pathology/Neuropsychological Dysfunctions Completed NCT00155519
8 Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia Completed NCT00155818
9 Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia Completed NCT00155701
10 Molecular Genetic Study of Schizophrenia: Parent-Offspring Trios Completed NCT00155506
11 A 12-weeks Study to Evaluate the Probiotics Treatment in Prevention and Intervention of Weight-gain and Cognitive Impairment of First Episode Schizophrenia Recruiting NCT03379597 Bifico (Live combined bifidobacterium,Lactobacillus and Enterococcus capsules, Oral)
12 Explorations of the Normal Neural Behavioral and Pathological Bases of Metacognition Recruiting NCT03140475

Search NIH Clinical Center for Schizophrenia 4

Genetic Tests for Schizophrenia 4

Genetic tests related to Schizophrenia 4:

# Genetic test Affiliating Genes
1 Schizophrenia 4 29 PRODH

Anatomical Context for Schizophrenia 4

MalaCards organs/tissues related to Schizophrenia 4:

40
Bone, Brain, Bone Marrow, Cortex, Testes

Publications for Schizophrenia 4

Articles related to Schizophrenia 4:

(show top 50) (show all 79)
# Title Authors PMID Year
1
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 56 6
12217952 2002
2
Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. 56
24904170 2014
3
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. 56
23042115 2012
4
Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. 56
20360742 2010
5
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
6
Rare chromosomal deletions and duplications increase risk of schizophrenia. 56
18668038 2008
7
Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment. 56
18322454 2008
8
Early neurological phenotype in 4 children with biallelic PRODH mutations. 6
17412540 2007
9
Functional consequences of PRODH missense mutations. 6
15662599 2005
10
Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. 56
15274030 2004
11
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. 6
11891283 2002
12
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. 6
11510941 2001
13
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". 56
9514586 1998
14
A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). 56
8678112 1996
15
Schizophrenia: genetic tools for unraveling the nature of a complex disorder. 56
7644462 1995
16
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. 56
7644464 1995
17
Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model. 56
7726207 1994
18
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. 56
8040660 1994
19
Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. 56
8178837 1994
20
Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. 56
7909990 1994
21
Genomic scan for genes predisposing to schizophrenia. 56
7909992 1994
22
Analysis of the expression of BAX, BCL2, BIRC6, CASP3, CASP9 apoptosis genes during the first episode of schizophrenia. 61
32017818 2019
23
Comprehensive review of the research employing the schizophrenia cognition rating scale (SCoRS). 61
31196736 2019
24
Does Chinese calligraphy therapy reduce neuropsychiatric symptoms: a systematic review and meta-analysis. 61
29514660 2018
25
Meta-analysis of Cerebrospinal Fluid Cytokine and Tryptophan Catabolite Alterations in Psychiatric Patients: Comparisons Between Schizophrenia, Bipolar Disorder, and Depression. 61
28338954 2018
26
Effect of Clozapine vs Other Second-Generation Antipsychotics on Hospitalization and Seclusion: A Retrospective Mirror-Image Study in a Japanese Public Psychiatric Hospital. 61
29045304 2017
27
A Retrospective Study of Pimavanserin Use in a Movement Disorders Clinic. 61
28622212 2017
28
What are the top 10 physical activity research questions in schizophrenia? 61
26728764 2016
29
Economic Impact of Integrated Care Models for Patients with Chronic Diseases: A Systematic Review. 61
27712719 2016
30
Vitamin B12 deficiency: an important reversible co-morbidity in neuropsychiatric manifestations. 61
25722508 2015
31
Self-disorders and the schizophrenia spectrum: a study of 100 first hospital admissions. 61
24476579 2014
32
'Schizophrenia is a dirty word': service users' experiences of receiving a diagnosis of schizophrenia. 61
25237536 2014
33
The glutamate hypothesis: a pathogenic pathway from which pharmacological interventions have emerged. 61
25002292 2014
34
Testing the genomic enrichment of a large copy number variation within schizophrenia linkage regions. 61
22914616 2012
35
Resting-state networks in schizophrenia. 61
23279179 2012
36
[Clinical-genetic parameters and the nosological evaluation of schizoaffective psychosis in systematics of attack-like endogenous psychoses]. 61
21512496 2011
37
Effects of metabotropic glutamate receptor 3 genotype on phonetic mismatch negativity. 61
22022368 2011
38
Using virtual reality to evaluate executive functioning among persons with schizophrenia: a validity study. 61
19850451 2009
39
Impairment of working memory maintenance and response in schizophrenia: functional magnetic resonance imaging evidence. 61
18823880 2008
40
A scientific agenda for the concept of recovery as it applies to schizophrenia. 61
18420322 2008
41
Neuropsychological function-brain structure relationships and stage of illness: an investigation into chronic and first-episode schizophrenia. 61
18226505 2008
42
[Comparative evaluation of clinical practice guidelines for the treatment of schizophrenia]. 61
18514156 2008
43
Predictors of acute treatment response in patients with a first episode of non-affective psychosis: sociodemographics, premorbid and clinical variables. 61
16797591 2007
44
Dissecting corollary discharge dysfunction in schizophrenia. 61
17565658 2007
45
Randomized comparison of olanzapine versus risperidone for the treatment of first-episode schizophrenia: 4-month outcomes. 61
17151160 2006
46
Antipsychotics in early onset Schizophrenia: Systematic review and meta-analysis. 61
16470340 2006
47
Cognitive behavior therapy for schizophrenia. 61
16513854 2006
48
Common alterations in the serotonin transporter in platelets and lymphocytes of psychotic patients. 61
16453253 2006
49
[Neurological complications following haploidentical bone marrow transplantation]. 61
16403297 2005
50
The relationships among cognition, motivation, and emotion in schizophrenia: how much and how little we know. 61
16079388 2005

Variations for Schizophrenia 4

ClinVar genetic disease variations for Schizophrenia 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRODH NC_000022.10:g.(?_18893735)_(18924066_?)deldeletion Pathogenic,risk factor 4005 22:18893735-18924066 22:18906222-18936553
2 PRODH NM_016335.5(PRODH):c.1363G>T (p.Ala455Ser)SNV Pathogenic,risk factor 4009 rs1807467 22:18905893-18905893 22:18918380-18918380
3 PRODH NM_016335.5(PRODH):c.1292G>A (p.Arg431His)SNV Pathogenic,risk factor 4011 rs2904552 22:18905964-18905964 22:18918451-18918451
4 PRODH NM_016335.5(PRODH):c.1397C>T (p.Thr466Met)SNV Conflicting interpretations of pathogenicity 4013 rs2870984 22:18905859-18905859 22:18918346-18918346
5 PRODH NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro)SNV Conflicting interpretations of pathogenicity 4008 rs2904551 22:18905934-18905934 22:18918421-18918421
6 PRODH NM_016335.5(PRODH):c.1357C>T (p.Arg453Cys)SNV Conflicting interpretations of pathogenicity 4006 rs3970559 22:18905899-18905899 22:18918386-18918386
7 PRODH NM_016335.5(PRODH):c.865T>A (p.Leu289Met)SNV Uncertain significance 4007 rs137852934 22:18909902-18909902 22:18922389-18922389
8 PRODH NM_016335.5(PRODH):c.1562= (p.Arg521=)SNV Benign 4010 rs450046 22:18901004-18901004 22:18913491-18913491
9 PRODH NM_016335.5(PRODH):c.554G>A (p.Trp185Ter)SNV Benign 459918 rs11913840 22:18912677-18912677 22:18925164-18925164

UniProtKB/Swiss-Prot genetic disease variations for Schizophrenia 4:

73
# Symbol AA change Variation ID SNP ID
1 PRODH p.Pro406Leu VAR_029567 rs3970555
2 PRODH p.Val427Met VAR_029569 rs2238731
3 PRODH p.Leu441Pro VAR_029571 rs2904551
4 PRODH p.Arg453Cys VAR_029572 rs3970559
5 PRODH p.Thr466Met VAR_029574 rs2870984
6 PRODH p.Ala472Thr VAR_029575 rs2870983
7 PRODH p.Gln521Arg VAR_029577 rs450046

Expression for Schizophrenia 4

Search GEO for disease gene expression data for Schizophrenia 4.

Pathways for Schizophrenia 4

GO Terms for Schizophrenia 4

Sources for Schizophrenia 4

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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