MCID: SCH075
MIFTS: 16

Schizophrenia 19

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

Aliases & Classifications for Schizophrenia 19

MalaCards integrated aliases for Schizophrenia 19:

Name: Schizophrenia 19 57 12 75 6
Schizophrenia 19 with or Without an Affective Disorder 57 75
Sczd19 57 75
Schizophrenia 19, Susceptibility to 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
two unrelated families of icelandic and finnish descent have been reported


Classifications:



External Ids:

OMIM 57 617629
Disease Ontology 12 DOID:0080281
MeSH 44 D012559

Summaries for Schizophrenia 19

UniProtKB/Swiss-Prot : 75 Schizophrenia 19: 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 19, is also known as schizophrenia 19 with or without an affective disorder. An important gene associated with Schizophrenia 19 is RBM12 (RNA Binding Motif Protein 12). Related phenotypes are Decreased viability and Decreased viability

Description from OMIM: 617629

Related Diseases for Schizophrenia 19

Symptoms & Phenotypes for Schizophrenia 19

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
cognitive impairment

Neurologic Behavioral Psychiatric Manifestations:
schizophrenia
schizoaffective disorder
mood disorders


Clinical features from OMIM:

617629

GenomeRNAi Phenotypes related to Schizophrenia 19 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.23 CPNE1
2 Decreased viability GR00221-A-2 9.23 CPNE1
3 Decreased viability GR00221-A-3 9.23 CPNE1
4 Decreased viability GR00240-S-1 9.23 CPNE1 RBM12
5 Decreased viability GR00301-A 9.23 CPNE1
6 Decreased viability GR00402-S-2 9.23 CPNE1 RBM12

Drugs & Therapeutics for Schizophrenia 19

Search Clinical Trials , NIH Clinical Center for Schizophrenia 19

Genetic Tests for Schizophrenia 19

Anatomical Context for Schizophrenia 19

Publications for Schizophrenia 19

Variations for Schizophrenia 19

ClinVar genetic disease variations for Schizophrenia 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM12 NM_001198838.1(RBM12): c.2377G> T (p.Gly793Ter) single nucleotide variant Pathogenic rs781720548 GRCh37 Chromosome 20, 34240868: 34240868
2 RBM12 NM_001198838.1(RBM12): c.2377G> T (p.Gly793Ter) single nucleotide variant Pathogenic rs781720548 GRCh38 Chromosome 20, 35652946: 35652946
3 RBM12 NM_001198838.1(RBM12): c.2532delT (p.Gly845Alafs) deletion Pathogenic GRCh37 Chromosome 20, 34240713: 34240713
4 RBM12 NM_001198838.1(RBM12): c.2532delT (p.Gly845Alafs) deletion Pathogenic GRCh38 Chromosome 20, 35652791: 35652791

Expression for Schizophrenia 19

Search GEO for disease gene expression data for Schizophrenia 19.

Pathways for Schizophrenia 19

GO Terms for Schizophrenia 19

Sources for Schizophrenia 19

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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