MCID: SCH056
MIFTS: 14

Schizophrenia 15

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

Aliases & Classifications for Schizophrenia 15

MalaCards integrated aliases for Schizophrenia 15:

Name: Schizophrenia 15 53 71 28 13 69
Schizophrenia 15 with or Without an Affective Disorder 53 71
Sczd15 53 71
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related 53
Schizophrenia Susceptibility Locus Chromosome 22q13-Related 71

Characteristics:

HPO:

31
schizophrenia 15:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 53 613950
MedGen 39 C3151380
MeSH 41 D012559
SNOMED-CT via HPO 65 191526005 58214004
UMLS 69 C3151380

Summaries for Schizophrenia 15

UniProtKB/Swiss-Prot : 71 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 schizophrenia 15 with or without an affective disorder, and has symptoms including schizophrenia An important gene associated with Schizophrenia 15 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3).

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:

31
# Description HPO Frequency HPO Source Accession
1 schizophrenia 31 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 28 SHANK3

Anatomical Context for Schizophrenia 15

Publications for Schizophrenia 15

Variations for Schizophrenia 15

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

71
# 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.1606C> T (p.Arg536Trp) single nucleotide variant Pathogenic rs387906933 GRCh37 Chromosome 22, 51137225: 51137225

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
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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