SCZD15
MCID: SCH056
MIFTS: 38

Schizophrenia 15 (SCZD15)

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

Aliases & Classifications for Schizophrenia 15

MalaCards integrated aliases for Schizophrenia 15:

Name: Schizophrenia 15 57 12 72 29 13 6 15 70
Sczd15 57 12 72
Schizophrenia 15 with or Without an Affective Disorder 57 72
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related 57
Schizophrenia Susceptibility Locus Chromosome 22q13-Related 72
Schizophrenia, Type 15 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0070091
OMIM® 57 613950
MeSH 44 D012559
MedGen 41 C3151380
UMLS 70 C3151380

Summaries for Schizophrenia 15

UniProtKB/Swiss-Prot : 72 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, also known as sczd15, is related to schizophrenia and learning disability. An important gene associated with Schizophrenia 15 is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include cortex, eye and cingulate cortex, and related phenotypes are schizophrenia and hyperactivity

Disease Ontology : 12 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.

More information from OMIM: 613950

Related Diseases for Schizophrenia 15

Graphical network of the top 20 diseases related to Schizophrenia 15:



Diseases related to Schizophrenia 15

Symptoms & Phenotypes for Schizophrenia 15

Human phenotypes related to Schizophrenia 15:

31
# Description HPO Frequency HPO Source Accession
1 schizophrenia 31 HP:0100753
2 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
schizophrenia
hyperactivity
schizoaffective disorder
mental retardation, borderline to moderate (iq 32-73)
atypical chronic psychosis

Clinical features from OMIM®:

613950 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Schizophrenia 15:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 NPAS3 PRODH SHANK1 SHANK2 SHANK3

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 29 SHANK3

Anatomical Context for Schizophrenia 15

MalaCards organs/tissues related to Schizophrenia 15:

40
Cortex, Eye, Cingulate Cortex, Thalamus, Brain

Publications for Schizophrenia 15

Articles related to Schizophrenia 15:

(show all 50)
# Title Authors PMID Year
1
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. 57 6
20385823 2010
2
Initiating clozapine treatment service and characteristics of clozapine-treated patients in a general hospital in Addis Ababa, Ethiopia. 61
32670632 2020
3
Functional magnetic resonance spectroscopy in patients with schizophrenia and bipolar affective disorder: Glutamate dynamics in the anterior cingulate cortex during a working memory task. 61
30558824 2019
4
Modelling reaction time distribution of fast decision tasks in schizophrenia: Evidence for novel candidate endophenotypes. 61
30153599 2018
5
Active HHV-6 Infection of Cerebellar Purkinje Cells in Mood Disorders. 61
30186267 2018
6
Visual hallucinations in the psychosis spectrum and comparative information from neurodegenerative disorders and eye disease. 61
24936084 2014
7
Using negative feedback to guide behavior: impairments on the first 4 cards of the Wisconsin Card Sorting Test predict negative symptoms of schizophrenia. 61
24210530 2013
8
Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia. 61
23319414 2013
9
Regional cerebral blood flow changes and performance deficit during a sustained attention task in schizophrenia: (15) O-water positron emission tomography. 61
23252922 2012
10
Differences in the circuitry-based association of copy numbers and gene expression between the hippocampi of patients with schizophrenia and the hippocampi of patients with bipolar disorder. 61
22309971 2012
11
[Comparison of mental rotation ability for depressive disorder and schizophrenia]. 61
22781534 2012
12
Expression of Ca²⁺-dependent activator protein for secretion 2 is increased in the brains of schizophrenic patients. 61
21601610 2011
13
The Effects of Social Skills Training vs. Psychoeducation on Negative Attitudes of Mothers of Persons with Schizophrenia: A Pilot Study. 61
21852986 2011
14
Brain network connectivity in individuals with schizophrenia and their siblings. 61
21193174 2011
15
EEG characteristics in depression, "negative" and "positive" schizophrena. 61
19935497 2009
16
Abnormal prefrontal cortical activity and connectivity during response selection in first episode psychosis, chronic schizophrenia, and unaffected siblings of individuals with schizophrenia. 61
19179050 2009
17
Dopamine beta hydroxylase (DBH) plasma activity in childhood mental disorders. 61
20035263 2009
18
Neurological soft signs in schizophrenia: investigating motor overflow. 61
19048433 2009
19
Expression of cellular prion protein (PrP(c)) in schizophrenia, bipolar disorder, and depression. 61
18188498 2008
20
Attentional capture in schizophrenia and schizotypy: effect of attentional load. 61
18302024 2008
21
Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. 61
17541950 2007
22
Neurocognitive deficits in the (putative) prodrome and first episode of psychosis. 61
17467955 2007
23
Magnetic resonance imaging of the thalamus and adhesio interthalamica in twins with schizophrenia. 61
17404117 2007
24
Symptomatology and social inference: a theory of mind study of schizophrenia and psychotic affective disorder. 61
16571466 2005
25
Higher than Physician's Desk Reference (US) doses on atypical antipsychotics. 61
16011445 2005
26
Urinary excretion of biopyrrins, oxidative metabolites of bilirubin, increases in patients with psychiatric disorders. 61
15820412 2005
27
M2/M4 muscarinic receptor binding in the anterior cingulate cortex in schizophrenia and mood disorders. 61
15833594 2005
28
Is quality of life associated with cognitive impairment in schizophrenia? 61
15694230 2005
29
[Concentration and protein composition of circulating immune complexes in the blood of patients with schizophrenia and subjects with positive familial history of disease]. 61
15875944 2005
30
Increased levels of serum basic fibroblast growth factor in schizophrenia. 61
14561432 2003
31
Characterizing the elderly homeless: a 10-year study in Israel. 61
12888228 2003
32
Decreased thalamic expression of the homeobox gene DLX1 in psychosis. 61
12963668 2003
33
Oligodendrocyte dysfunction in schizophrenia and bipolar disorder. 61
13678875 2003
34
Functional disconnection between the prefrontal and parietal cortices during working memory processing in schizophrenia: a[15(O)]H2O PET study. 61
12727696 2003
35
Effects of olanzapine on lipid abnormalities in elderly psychotic patients. 61
14565782 2003
36
Progressive decrease of left superior temporal gyrus gray matter volume in patients with first-episode schizophrenia. 61
12505815 2003
37
The effects of nicotine on specific eye tracking measures in schizophrenia. 61
12372663 2002
38
Analysis of ependymal abnormalities in subjects with schizophrenia, bipolar disorder, and depression. 61
12223258 2002
39
Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22. 61
11930015 2002
40
Aberrant tyrosine transport across the cell membrane in patients with schizophrenia. 61
11576034 2001
41
Neuropsychological dysfunctions in siblings discordant for schizophrenia. 61
10974361 2000
42
Hemispheric processing deficits in patients with paranoid schizophrenia. 61
10705587 2000
43
The size and fibre composition of the corpus callosum with respect to gender and schizophrenia: a post-mortem study. 61
10050898 1999
44
Acute and transient psychotic disorder: a 1-year follow-up study. 61
9272200 1997
45
Limbic dysfunction in schizophrenia and mania. A study using 18F-labelled fluorodeoxyglucose and positron emission tomography. 61
8894204 1996
46
Incidence of psychotic illness in London: comparison of ethnic groups. 61
7755702 1994
47
Computerised tomography in schizophrenia 15 years on. 61
2132566 1990
48
MMPI and Rorschach indices of schizophrenic and depressive diagnoses among adolescent inpatients. 61
3404390 1988
49
The occurrence of organic disease of possible or probable aetiological significance in a population of 268 cases of first episode schizophrenia. 61
3602229 1987
50
Extreme MMPI scores and the Research Diagnostic Criteria. Screening college men for psychopathology. 61
435013 1979

Variations for Schizophrenia 15

ClinVar genetic disease variations for Schizophrenia 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHANK3 NM_033517.1(SHANK3):c.3349C>T (p.Arg1117Ter) SNV Pathogenic 30560 rs387906932 GRCh37: 22:51159610-51159610
GRCh38: 22:50721182-50721182
2 SHANK3 NM_033517.1(SHANK3):c.1606C>T (p.Arg536Trp) SNV Pathogenic 30561 rs387906933 GRCh37: 22:51137225-51137225
GRCh38: 22:50698797-50698797
3 SHANK3 NM_033517.1(SHANK3):c.3637dup (p.His1213fs) Duplication Pathogenic 397528 rs1555910162 GRCh37: 22:51159897-51159898
GRCh38: 22:50721469-50721470
4 SHANK3 NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) Deletion Likely pathogenic 988760 GRCh37: 22:51159348-51159348
GRCh38: 22:50720920-50720920
5 SHANK3 NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) SNV Uncertain significance 252769 rs530255181 GRCh37: 22:51159169-51159169
GRCh38: 22:50720741-50720741
6 SHANK3 NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) Microsatellite Uncertain significance 988742 GRCh37: 22:51160144-51160146
GRCh38: 22:50721716-50721718

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

72
# Symbol AA change Variation ID SNP ID
1 SHANK3 p.Arg536Trp VAR_065800 rs387906933

Expression for Schizophrenia 15

Search GEO for disease gene expression data for Schizophrenia 15.

Pathways for Schizophrenia 15

GO Terms for Schizophrenia 15

Cellular components related to Schizophrenia 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.58 SHANK3 SHANK2 SHANK1
2 neuron projection GO:0043005 9.54 SHANK3 SHANK2 SHANK1
3 postsynaptic density GO:0014069 9.43 SHANK3 SHANK2 SHANK1
4 postsynaptic membrane GO:0045211 9.33 SHANK3 SHANK2 SHANK1
5 ciliary membrane GO:0060170 9.32 SHANK3 SHANK2
6 dendritic spine GO:0043197 9.13 SHANK3 SHANK2 SHANK1
7 ionotropic glutamate receptor complex GO:0008328 8.8 SHANK3 SHANK2 SHANK1

Biological processes related to Schizophrenia 15 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 9.7 SHANK3 SHANK2 SHANK1
2 long-term synaptic potentiation GO:0060291 9.69 SHANK3 SHANK2 SHANK1
3 adult behavior GO:0030534 9.67 SHANK3 SHANK2 SHANK1
4 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.65 SHANK3 SHANK2 SHANK1
5 positive regulation of excitatory postsynaptic potential GO:2000463 9.63 SHANK3 SHANK2 SHANK1
6 positive regulation of dendritic spine development GO:0060999 9.61 SHANK3 SHANK2 SHANK1
7 learning GO:0007612 9.58 SHANK3 SHANK2
8 brain morphogenesis GO:0048854 9.58 SHANK3 SHANK2 SHANK1
9 synapse assembly GO:0007416 9.57 SHANK3 SHANK2
10 neuromuscular process controlling balance GO:0050885 9.56 SHANK3 SHANK1
11 long-term synaptic depression GO:0060292 9.55 SHANK3 SHANK2
12 negative regulation of actin filament bundle assembly GO:0032232 9.54 SHANK3 SHANK1
13 regulation of AMPA receptor activity GO:2000311 9.54 SHANK3 SHANK2 SHANK1
14 dendritic spine morphogenesis GO:0060997 9.5 SHANK3 SHANK2 SHANK1
15 vocalization behavior GO:0071625 9.43 SHANK3 SHANK2 SHANK1
16 behavior GO:0007610 9.33 SHANK3 SHANK2 SHANK1
17 synaptic growth at neuromuscular junction GO:0051124 9.13 SHANK3 SHANK2 SHANK1
18 postsynaptic density assembly GO:0097107 8.8 SHANK3 SHANK2 SHANK1

Molecular functions related to Schizophrenia 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH3 domain binding GO:0017124 9.33 SHANK3 SHANK2 SHANK1
2 scaffold protein binding GO:0097110 9.26 SHANK3 SHANK1
3 ionotropic glutamate receptor binding GO:0035255 9.13 SHANK3 SHANK2 SHANK1
4 GKAP/Homer scaffold activity GO:0030160 8.8 SHANK3 SHANK2 SHANK1

Sources for Schizophrenia 15

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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