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1.

Schizophrenia

Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target. [from Medical Genetics Summaries]

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
2.

Schizophrenia

A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. [from HPO]

MedGen UID:
506532
Concept ID:
CN117643
Finding
3.

Source

The originating point of the Content Item or record, including but not limited to archive import, Scan, fax, email, paper form. [from NCI_CareLex]

MedGen UID:
99076
Concept ID:
C0449416
Finding
4.

Hallucinations

Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. [from HPO]

MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
5.

Illness

A state of ill health, bodily malfunction, or discomfort. [from NCI]

MedGen UID:
526241
Concept ID:
C0221423
Sign or Symptom
6.

Remission phase

Diminution or disappearance of symptoms. [from PSY]

MedGen UID:
154255
Concept ID:
C0544452
Finding
7.

Cognitive impairment

Abnormality in the process of thought including the ability to process information. [from HPO]

MedGen UID:
151917
Concept ID:
C0683322
Mental or Behavioral Dysfunction
8.

Hallucinations, Sensory

Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. [from HPO]

MedGen UID:
115982
Concept ID:
C0235153
Sign or Symptom
9.

Auditory hallucinations

Perception of sound in the absence of a corresponding stimulus. [from NCI]

MedGen UID:
115932
Concept ID:
C0233762
Sign or Symptom
10.

Verbal auditory hallucinations

MedGen UID:
98402
Concept ID:
C0424068
Sign or Symptom
11.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
12.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
13.

Schizophrenia Spectrum and Other Psychotic Disorders

Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5) [from MeSH]

MedGen UID:
141907
Concept ID:
C0525046
Mental or Behavioral Dysfunction
14.

Hypnopompic hallucinations

MedGen UID:
140858
Concept ID:
C0424082
Mental or Behavioral Dysfunction
15.

Unformed visual hallucinations

MedGen UID:
140857
Concept ID:
C0424071
Sign or Symptom
16.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
17.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
18.

Elementary hallucination

MedGen UID:
115931
Concept ID:
C0233759
Sign or Symptom
19.

Reflex hallucinations

MedGen UID:
107880
Concept ID:
C0563661
Sign or Symptom
20.

Hallucinations, Kinesthetic

MedGen UID:
107782
Concept ID:
C0544668
Sign or Symptom
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