MCID: SCH056
MIFTS: 15

Schizophrenia 15

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

Aliases & Classifications for Schizophrenia 15

MalaCards integrated aliases for Schizophrenia 15:

Name: Schizophrenia 15 57 12 75 29 13 6 73
Sczd15 57 12 75
Schizophrenia 15 with or Without an Affective Disorder 57 75
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related 57
Schizophrenia Susceptibility Locus Chromosome 22q13-Related 75
Schizophrenia, Type 15 40

Characteristics:

HPO:

32
schizophrenia 15:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 57 613950
Disease Ontology 12 DOID:0070091
MedGen 42 C3151380
MeSH 44 D012559
SNOMED-CT via HPO 69 191526005 58214004
UMLS 73 C3151380

Summaries for Schizophrenia 15

UniProtKB/Swiss-Prot : 75 Schizophrenia 15: 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 15, is also known as sczd15. An important gene associated with Schizophrenia 15 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). Related phenotype is schizophrenia.

Disease Ontology : 12 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.

Description from OMIM: 613950

Related Diseases for Schizophrenia 15

Symptoms & Phenotypes for Schizophrenia 15

Clinical features from OMIM:

613950

Human phenotypes related to Schizophrenia 15:

32
# Description HPO Frequency HPO Source Accession
1 schizophrenia 32 HP:0100753

Drugs & Therapeutics for Schizophrenia 15

Search Clinical Trials , NIH Clinical Center for Schizophrenia 15

Genetic Tests for Schizophrenia 15

Genetic tests related to Schizophrenia 15:

# Genetic test Affiliating Genes
1 Schizophrenia 15 29 SHANK3

Anatomical Context for Schizophrenia 15

Publications for Schizophrenia 15

Variations for Schizophrenia 15

UniProtKB/Swiss-Prot genetic disease variations for Schizophrenia 15:

75
# Symbol AA change Variation ID SNP ID
1 SHANK3 p.Arg536Trp VAR_065800 rs387906933

ClinVar genetic disease variations for Schizophrenia 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHANK3 NM_033517.1(SHANK3): c.3349C> T (p.Arg1117Ter) single nucleotide variant Pathogenic rs387906932 GRCh37 Chromosome 22, 51159610: 51159610
2 SHANK3 NM_033517.1(SHANK3): c.3349C> T (p.Arg1117Ter) single nucleotide variant Pathogenic rs387906932 GRCh38 Chromosome 22, 50721182: 50721182
3 SHANK3 NM_033517.1(SHANK3): c.1606C> T (p.Arg536Trp) single nucleotide variant Pathogenic rs387906933 GRCh37 Chromosome 22, 51137225: 51137225
4 SHANK3 NM_033517.1(SHANK3): c.1606C> T (p.Arg536Trp) single nucleotide variant Pathogenic rs387906933 GRCh38 Chromosome 22, 50698797: 50698797

Expression for Schizophrenia 15

Search GEO for disease gene expression data for Schizophrenia 15.

Pathways for Schizophrenia 15

GO Terms for Schizophrenia 15

Sources for Schizophrenia 15

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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