MCID: SCH051
MIFTS: 19

Schizophrenia 4

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

Aliases & Classifications for Schizophrenia 4

MalaCards integrated aliases for Schizophrenia 4:

Name: Schizophrenia 4 57 12 75 29 6 73
Sczd4 57 12 75
Schizophrenia, Susceptibility to, 4 57 13
Schizophrenia Susceptibility Locus, Chromosome 22q11-Related 57
Schizophrenia Susceptibility Locus Chromosome 22-Related 75
Schizophrenia, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (22q11)


HPO:

32
schizophrenia 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600850
Disease Ontology 12 DOID:0070080
MedGen 42 C1833247
MeSH 44 D012559
SNOMED-CT via HPO 69 263681008 191526005 58214004
UMLS 73 C1833247

Summaries for Schizophrenia 4

UniProtKB/Swiss-Prot : 75 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 schizophrenia. An important gene associated with Schizophrenia 4 is PRODH (Proline Dehydrogenase 1). 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.

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:

57
Neuro:
schizophrenia susceptibility

Lab:
interstitial deletion of 22q11


Clinical features from OMIM:

600850

Human phenotypes related to Schizophrenia 4:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 schizophrenia 32 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 29 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:

75
# 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
(show all 14)
# 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 NC_000022.11: g.(?_18906222)_(18936553_?)del deletion Pathogenic,risk factor GRCh38 Chromosome 22, 18906222: 18936553
3 PRODH NM_016335.4(PRODH): c.1357C> T (p.Arg453Cys) single nucleotide variant risk factor rs3970559 GRCh37 Chromosome 22, 18905899: 18905899
4 PRODH NM_016335.4(PRODH): c.1357C> T (p.Arg453Cys) single nucleotide variant risk factor rs3970559 GRCh38 Chromosome 22, 18918386: 18918386
5 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh37 Chromosome 22, 18905934: 18905934
6 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh38 Chromosome 22, 18918421: 18918421
7 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh37 Chromosome 22, 18905893: 18905893
8 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh38 Chromosome 22, 18918380: 18918380
9 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh37 Chromosome 22, 18905964: 18905964
10 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh38 Chromosome 22, 18918451: 18918451
11 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh37 Chromosome 22, 18905859: 18905859
12 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh38 Chromosome 22, 18918346: 18918346
13 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh37 Chromosome 22, 18912677: 18912677
14 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh38 Chromosome 22, 18925164: 18925164

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 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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