SCZD15
MCID: SCH056
MIFTS: 16

Schizophrenia 15 (SCZD15)

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

Aliases & Classifications for Schizophrenia 15

MalaCards integrated aliases for Schizophrenia 15:

Name: Schizophrenia 15 58 12 76 30 13 6 74
Sczd15 58 12 76
Schizophrenia 15 with or Without an Affective Disorder 58 76
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related 58
Schizophrenia Susceptibility Locus Chromosome 22q13-Related 76
Schizophrenia, Type 15 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on a report of 3 brothers and 1 unrelated female
brothers inherited mutation from father who was germline mosaic
onset of psychiatric symptoms in second decade


HPO:

33
schizophrenia 15:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070091
OMIM 58 613950
MeSH 45 D012559
MedGen 43 C3151380
SNOMED-CT via HPO 70 191526005 58214004
UMLS 74 C3151380

Summaries for Schizophrenia 15

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Schizophrenia 15:

33
# Description HPO Frequency HPO Source Accession
1 schizophrenia 33 HP:0100753

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
schizophrenia
hyperactivity
schizoaffective disorder
mental retardation, borderline to moderate (iq 32-73)
atypical chronic psychosis

Clinical features from OMIM:

613950

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 30 SHANK3

Anatomical Context for Schizophrenia 15

Publications for Schizophrenia 15

Variations for Schizophrenia 15

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

76
# 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
5 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic rs1555910162 GRCh37 Chromosome 22, 51159898: 51159898
6 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic rs1555910162 GRCh38 Chromosome 22, 50721470: 50721470

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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