SCZD19
MCID: SCH075
MIFTS: 36

Schizophrenia 19 (SCZD19)

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

Aliases & Classifications for Schizophrenia 19

MalaCards integrated aliases for Schizophrenia 19:

Name: Schizophrenia 19 57 12 72 6 15
Schizophrenia 19 with or Without an Affective Disorder 57 72
Sczd19 57 72
Schizophrenia 19, Susceptibility to 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
two unrelated families of icelandic and finnish descent have been reported

Inheritance:
autosomal dominant


HPO:

31
schizophrenia 19:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

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

Summaries for Schizophrenia 19

UniProtKB/Swiss-Prot : 72 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 exudative vitreoretinopathy and schizophrenia. An important gene associated with Schizophrenia 19 is RBM12 (RNA Binding Motif Protein 12), and among its related pathways/superpathways are Peptide ligand-binding receptors and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include brain, cortex and cingulate cortex, and related phenotypes are cognitive impairment and schizophrenia

Disease Ontology : 12 A schizophrenia that has material basis in heterozygous mutation in the RBM12 gene on chromosome 20q11.

More information from OMIM: 617629

Related Diseases for Schizophrenia 19

Symptoms & Phenotypes for Schizophrenia 19

Human phenotypes related to Schizophrenia 19:

31
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 31 HP:0100543
2 schizophrenia 31 HP:0100753

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
cognitive impairment

Neurologic Behavioral Psychiatric Manifestations:
schizophrenia
schizoaffective disorder
mood disorders

Clinical features from OMIM®:

617629 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.92 ANK3 EGR3 FZD2 FZD8

MGI Mouse Phenotypes related to Schizophrenia 19:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 ADRA1D ANK3 CHRNA7 EGR3 FZD2 FZD3

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:

40
Brain, Cortex, Cingulate Cortex, Thalamus, Pons

Publications for Schizophrenia 19

Articles related to Schizophrenia 19:

(show all 39)
# Title Authors PMID Year
1
Truncating mutations in RBM12 are associated with psychosis. 57 6
28628109 2017
2
Altered topological characteristics of morphological brain network relate to language impairment in high genetic risk subjects and schizophrenia patients. 61
30700398 2019
3
Visual memory uniquely predicts anhedonia in schizophrenia but not bipolar disorder. 61
28419772 2019
4
Correlation of metabolic parameters, neurotrophin-3, and neurotrophin-4 serum levels in women with schizophrenia and first-onset depression. 61
30654674 2019
5
Olfactory bulbus volume and olfactory sulcus depth in psychotic patients and patients with anxiety disorder/depression. 61
30382395 2018
6
Diagnostic shift in patients diagnosed with schizoaffective disorder: a systematic review and meta-analysis of rediagnosis studies. 61
27226263 2016
7
Interference control commonalities in patients with schizophrenia, bipolar disorder, and borderline personality disorder. 61
26653709 2016
8
Changes in cholinergic and glutamatergic markers in the striatum from a sub-set of subjects with schizophrenia. 61
26545297 2015
9
Evidence of a sex-dependent restrictive epigenome in schizophrenia. 61
25935252 2015
10
[Psychopathological features of chronic apathetic depressions in schizophrenia]. 61
26978253 2015
11
Hippocampal subfield volumes in first episode and chronic schizophrenia. 61
25658118 2015
12
Altered coupling of regional cerebral blood flow and brain temperature in schizophrenia compared with bipolar disorder and healthy subjects. 61
25182665 2014
13
Serum copeptin and its diagnostic performance in schizophrenia. 61
26223145 2014
14
Study of the inferior colliculus in patients with schizophrenia by magnetic resonance spectroscopy. 61
24965924 2014
15
Mismatch negativity and p3a/reorienting complex in subjects with schizophrenia or at-risk mental state. 61
24860454 2014
16
Dissociation of understanding from applying others' false beliefs in remitted schizophrenia: evidence from a computerized referential communication task. 61
23683146 2013
17
Clinical characteristics of cough mixture abusers referred to three substance abuse clinics in Hong Kong: a retrospective study. 61
23271584 2012
18
[Analysis of event-related potentials to verbal stimuli in healthy subjects and schizophrenia patients]. 61
22690545 2012
19
Tract-specific analysis of white matter integrity disruption in schizophrenia. 61
22398298 2012
20
Neuroanatomical correlates of suicide in psychosis: the possible role of von Economo neurons. 61
21731632 2011
21
Increased temporal variability of auditory event-related potentials in schizophrenia and Schizotypal Personality Disorder. 61
20817485 2010
22
Aberrant salience network (bilateral insula and anterior cingulate cortex) connectivity during information processing in schizophrenia. 61
20724114 2010
23
Memory-guided saccade abnormalities in schizophrenic patients and their healthy, full biological siblings. 61
17976251 2008
24
Neurochemical markers for schizophrenia, bipolar disorder, and major depression in postmortem brains. 61
15691526 2005
25
Differential impairment on measures of attention in patients with paranoid and nonparanoid schizophrenia. 61
14757328 2004
26
Facial emotion recognition in schizophrenia: intensity effects and error pattern. 61
14514489 2003
27
Effects of alcohol dependence comorbidity and antipsychotic medication on volumes of the thalamus and pons in schizophrenia. 61
12777269 2003
28
Clozapine treatment in patients with prior substance abuse. 61
12655909 2003
29
Shape differences in the corpus callosum in first-episode schizophrenia and first-episode psychotic affective disorder. 61
11986146 2002
30
Disentangling the pathology of schizophrenia and paraphrenia. 61
11904750 2002
31
Clinical features of panic attacks in schizophrenia. 61
11585715 2001
32
Increased baseline occupancy of D2 receptors by dopamine in schizophrenia. 61
10884434 2000
33
MRI changes in schizophrenia in late life: a preliminary controlled study. 61
8723302 1996
34
Abnormally high neuronal density in the schizophrenic cortex. A morphometric analysis of prefrontal area 9 and occipital area 17. 61
7575100 1995
35
Auditory P300 event-related potentials and neuropsychological performance in schizophrenia and bipolar affective disorder. 61
7748981 1995
36
Effects of a limiting Medicaid drug-reimbursement benefits on the use of psychotropic agents and acute mental health services by patients with schizophrenia. 61
8052275 1994
37
Olfactory hallucinations and olfactory identification ability in patients with schizophrenia and other psychiatric disorders. 61
8054312 1994
38
Cerebral perfusion changes in schizophrenic patients using Tc-99m hexamethylpropylene amineoxime (HMPAO). 61
2383938 1990
39
Specific imbalance of right and left sided motor neuron excitability in schizophrenia. 61
3404162 1988

Variations for Schizophrenia 19

ClinVar genetic disease variations for Schizophrenia 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RBM12 , CPNE1 NM_006047.6(RBM12):c.2532del (p.Gly845fs) Deletion Pathogenic 433196 rs1262969313 GRCh37: 20:34240713-34240713
GRCh38: 20:35652791-35652791
2 RBM12 , CPNE1 NM_006047.6(RBM12):c.2377G>T (p.Gly793Ter) SNV Pathogenic 433195 rs781720548 GRCh37: 20:34240868-34240868
GRCh38: 20:35652946-35652946

Expression for Schizophrenia 19

Search GEO for disease gene expression data for Schizophrenia 19.

Pathways for Schizophrenia 19

Pathways related to Schizophrenia 19 according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 FZD8 FZD5 FZD3 FZD2 CHRNA7 ADRA1D
2
Show member pathways
13.04 FZD8 FZD5 FZD3 FZD2 CHRNA7
3
Show member pathways
12.76 FZD8 FZD5 FZD3 FZD2
4
Show member pathways
12.69 FZD8 FZD5 FZD3 FZD2
5
Show member pathways
12.67 FZD8 FZD5 FZD3 FZD2
6 12.61 FZD8 FZD5 FZD3 FZD2
7
Show member pathways
12.54 FZD8 FZD5 FZD3 FZD2
8
Show member pathways
12.34 FZD8 FZD5 FZD3 FZD2
9
Show member pathways
12.29 FZD8 FZD5 FZD3 FZD2
10 12.26 FZD8 FZD5 FZD3 FZD2
11
Show member pathways
12.24 FZD8 FZD5 FZD3 FZD2
12
Show member pathways
12.15 FZD8 FZD5 FZD3 FZD2
13
Show member pathways
12.06 FZD8 FZD5 FZD3 FZD2
14 12.02 FZD8 FZD5 FZD3 FZD2
15 12 FZD8 FZD5 FZD3 FZD2
16 11.95 FZD8 FZD5 FZD3 FZD2
17 11.86 FZD8 FZD5 FZD3 FZD2
18 11.82 FZD8 FZD5 FZD3 FZD2
19 11.74 FZD8 FZD5 FZD3 FZD2
20 11.65 FZD8 FZD5 FZD3 FZD2
21 11.5 FZD8 FZD5 FZD3 FZD2
22 11.33 FZD8 FZD5 FZD3 FZD2 ANK3
23
Show member pathways
11.09 FZD8 FZD5
24 11.09 FZD8 FZD5 FZD3 FZD2
25 10.94 FZD8 FZD5 FZD2

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 clathrin-coated endocytic vesicle membrane GO:0030669 8.62 FZD5 FZD2

Biological processes related to Schizophrenia 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.98 FZD8 FZD5 FZD3 FZD2 CHRNA7 ANK3
2 G protein-coupled receptor signaling pathway GO:0007186 9.88 FZD8 FZD5 FZD3 FZD2 ADRA1D
3 cell surface receptor signaling pathway GO:0007166 9.71 FZD8 FZD5 FZD3 FZD2
4 Wnt signaling pathway GO:0016055 9.62 FZD8 FZD5 FZD3 FZD2
5 neuron differentiation GO:0030182 9.56 FZD8 FZD5 FZD3 FZD2
6 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.54 FZD5 FZD3 FZD2
7 beta-catenin destruction complex disassembly GO:1904886 9.46 FZD5 FZD2
8 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.33 FZD5 FZD3 FZD2
9 canonical Wnt signaling pathway GO:0060070 9.26 FZD8 FZD5 FZD3 FZD2
10 non-canonical Wnt signaling pathway GO:0035567 8.92 FZD8 FZD5 FZD3 FZD2

Molecular functions related to Schizophrenia 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.72 FZD8 FZD5 FZD3 FZD2 ADRA1D
2 transmembrane signaling receptor activity GO:0004888 9.55 FZD8 FZD5 FZD3 FZD2 CHRNA7
3 PDZ domain binding GO:0030165 9.43 FZD8 FZD3 FZD2
4 Wnt-protein binding GO:0017147 9.26 FZD8 FZD5 FZD3 FZD2
5 Wnt-activated receptor activity GO:0042813 8.92 FZD8 FZD5 FZD3 FZD2

Sources for Schizophrenia 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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