SCZD19
MCID: SCH075
MIFTS: 21

Schizophrenia 19 (SCZD19)

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

Aliases & Classifications for Schizophrenia 19

MalaCards integrated aliases for Schizophrenia 19:

Name: Schizophrenia 19 58 12 76 6 15
Schizophrenia 19 with or Without an Affective Disorder 58 76
Sczd19 58 76
Schizophrenia 19, Susceptibility to 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
schizophrenia 19:
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080281
OMIM 58 617629
MeSH 45 D012559
SNOMED-CT via HPO 70 191526005 58214004

Summaries for Schizophrenia 19

UniProtKB/Swiss-Prot : 76 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, also known as schizophrenia 19 with or without an affective disorder, is related to leukemia, acute monocytic. An important gene associated with Schizophrenia 19 is RBM12 (RNA Binding Motif Protein 12). Affiliated tissues include monocytes, and related phenotypes are schizophrenia and Decreased viability

Description from OMIM: 617629

Related Diseases for Schizophrenia 19

Symptoms & Phenotypes for Schizophrenia 19

Human phenotypes related to Schizophrenia 19:

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

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.53 CPNE1
2 Decreased viability GR00221-A-2 9.53 CPNE1 EP300
3 Decreased viability GR00221-A-3 9.53 CPNE1
4 Decreased viability GR00240-S-1 9.53 CPNE1 RBM12
5 Decreased viability GR00301-A 9.53 CPNE1
6 Decreased viability GR00402-S-2 9.53 CPNE1 RBM12 EP300

Drugs & Therapeutics for Schizophrenia 19

Search Clinical Trials , NIH Clinical Center for Schizophrenia 19

Genetic Tests for Schizophrenia 19

Anatomical Context for Schizophrenia 19

MalaCards organs/tissues related to Schizophrenia 19:

42
Monocytes

Publications for Schizophrenia 19

Articles related to Schizophrenia 19:

# Title Authors Year
1
Truncating mutations in RBM12 are associated with psychosis. ( 28628109 )
2017

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 rs1262969313 GRCh37 Chromosome 20, 34240713: 34240713
4 RBM12 NM_001198838.1(RBM12): c.2532delT (p.Gly845Alafs) deletion Pathogenic rs1262969313 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

Cellular components related to Schizophrenia 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.8 CPNE1 EP300 RBM12

Sources for Schizophrenia 19

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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