MCID: SCH051
MIFTS: 18

Schizophrenia 4

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

Aliases & Classifications for Schizophrenia 4

MalaCards integrated aliases for Schizophrenia 4:

Name: Schizophrenia 4 53 71 28 69
Schizophrenia, Susceptibility to, 4 53 13
Sczd4 53 71
Schizophrenia Susceptibility Locus, Chromosome 22q11-Related 53
Schizophrenia Susceptibility Locus Chromosome 22-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant (22q11)


HPO:

31
schizophrenia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 600850
MedGen 39 C1833247
MeSH 41 D012559
SNOMED-CT via HPO 65 263681008 191526005 58214004
UMLS 69 C1833247

Summaries for Schizophrenia 4

UniProtKB/Swiss-Prot : 71 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 schizophrenia, susceptibility to, 4, is related to schizophrenia, and has symptoms including abnormality of metabolism/homeostasis and schizophrenia. An important gene associated with Schizophrenia 4 is PRODH (Proline Dehydrogenase 1).

Description from OMIM: 600850

Related Diseases for Schizophrenia 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schizophrenia 9.6

Symptoms & Phenotypes for Schizophrenia 4

Symptoms via clinical synopsis from OMIM:

53
Neuro:
schizophrenia susceptibility

Lab:
interstitial deletion of 22q11


Clinical features from OMIM:

600850

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

Drugs & Therapeutics for Schizophrenia 4

Search Clinical Trials , NIH Clinical Center for Schizophrenia 4

Genetic Tests for Schizophrenia 4

Genetic tests related to Schizophrenia 4:

# Genetic test Affiliating Genes
1 Schizophrenia 4 28 PRODH

Anatomical Context for Schizophrenia 4

Publications for Schizophrenia 4

Articles related to Schizophrenia 4:

# Title Authors Year
1
Schizophrenia - 4: aggressives and natural isolates. ( 1118319 )
1975

Variations for Schizophrenia 4

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

71
# 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

ClinVar genetic disease variations for Schizophrenia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRODH NC_000022.11: g.(?_18906222)_(18936553_?)del deletion Pathogenic,risk factor GRCh37 Chromosome 22, 18893735: 18924066
2 PRODH NM_016335.4(PRODH): c.1357C> T (p.Arg453Cys) single nucleotide variant risk factor rs3970559 GRCh37 Chromosome 22, 18905899: 18905899
3 PRODH NM_016335.4(PRODH): c.865T> A (p.Leu289Met) single nucleotide variant Pathogenic,risk factor rs137852934 GRCh37 Chromosome 22, 18909902: 18909902
4 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh37 Chromosome 22, 18905934: 18905934
5 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh37 Chromosome 22, 18905893: 18905893
6 PRODH NM_016335.4(PRODH): c.1562A> G (p.Gln521Arg) single nucleotide variant risk factor rs450046 GRCh37 Chromosome 22, 18901004: 18901004
7 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh37 Chromosome 22, 18905964: 18905964
8 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh37 Chromosome 22, 18905859: 18905859

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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