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Items: 1 to 20 of 34

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.

Aminobutyric Acid

MedGen UID:
113108
Concept ID:
C0220780
Amino Acid, Peptide, or Protein; Pharmacologic Substance
4.

Cholecystokinin

Hormone secreted by upper intestinal mucosa on contact with gastric contents, cholecystokini; stimulates contraction of the gallbladder. Also, a neurotransmitter. [from PSY]

MedGen UID:
40260
Concept ID:
C0008328
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
5.

Glutamic Acid

One of twenty amino acids (molecules that join together to form proteins). Glutamic acid may help nerve cells send and receive information from other cells. It is being studied for its ability to decrease or prevent nerve damage caused by anticancer drugs. [from NCI_NCI-GLOSS]

MedGen UID:
29630
Concept ID:
C0061472
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Somatostatin

Expressed primarily by human SST Gene (Somatostatin Family) in the hypothalamic median eminence and in pancreatic delta cells, secreted 116-aa 13-kDa (precursor) Somatostatin is an important cyclic tetradecapeptide regulator of endocrine and nervous system function. Somatostatin inhibits release of adenohypophyseal GH, thyrotropin, and corticotropin, pancreatic insulin and glucagon, gastric mucosal gastrin, intestinal mucosal secretin, and renal renin by binding to specific high-affinity cell surface G protein-coupled receptors expressed in a tissue-specific manner. (NCI) [from NCI]

MedGen UID:
11505
Concept ID:
C0037659
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
7.

Memory dysfunction

Interference or disruption of memory processes. Memory dysfunction refers to the inability to store and retrieve information. This term encompasses a large number of problems and issues associated with intellectual functioning. 2005 [from NCI]

MedGen UID:
854406
Concept ID:
C3887551
Mental or Behavioral Dysfunction
8.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
9.

Benzodiazepine

a drug used to relieve nervousness, tension and anxiety [from CHV]

MedGen UID:
882013
Concept ID:
C4048284
Organic Chemical; Pharmacologic Substance
10.

Leioderm

MedGen UID:
327607
Concept ID:
C1563802
Indicator, Reagent, or Diagnostic Aid; Organic Chemical; Pharmacologic Substance
11.

Superol

MedGen UID:
289665
Concept ID:
C1563803
Indicator, Reagent, or Diagnostic Aid; Organic Chemical; Pharmacologic Substance
12.

Chinosol

MedGen UID:
182997
Concept ID:
C0917869
Indicator, Reagent, or Diagnostic Aid; Organic Chemical; Pharmacologic Substance
13.

Khinozol

MedGen UID:
182437
Concept ID:
C0917870
Indicator, Reagent, or Diagnostic Aid; Organic Chemical; Pharmacologic Substance
14.

Bioquin

MedGen UID:
148816
Concept ID:
C0702046
Indicator, Reagent, or Diagnostic Aid; Organic Chemical; Pharmacologic Substance
15.

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
16.

Diagnosis, Psychiatric

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

Psychotropic Drugs

A loosely defined grouping of drugs that have effects on psychological function. Here the psychotropic agents include the antidepressive agents, hallucinogens, and tranquilizing agents (including the antipsychotics and anti-anxiety agents). [from MeSH]

MedGen UID:
46201
Concept ID:
C0033978
Pharmacologic Substance
18.

Tranquilizer

drug with a calming, soothing effect. [from CRISP]

MedGen UID:
21610
Concept ID:
C0040614
Pharmacologic Substance
19.

Antipsychotic Agents

Agents that control agitated psychotic behavior, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect. They are used in SCHIZOPHRENIA; senile dementia; transient psychosis following surgery; or MYOCARDIAL INFARCTION; etc. These drugs are often referred to as neuroleptics alluding to the tendency to produce neurological side effects, but not all antipsychotics are likely to produce such effects. Many of these drugs may also be effective against nausea, emesis, and pruritus. [from MeSH]

MedGen UID:
21232
Concept ID:
C0040615
Pharmacologic Substance
20.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
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