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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 GTR]

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

Schizoaffective disorder

A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. [from NCI]

MedGen UID:
11334
Concept ID:
C0036337
Mental or Behavioral Dysfunction
3.

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
4.

Separated from cohabitee

Indicates a person living apart from his/her spouse by legal arrangement. [from NCI]

MedGen UID:
88651
Concept ID:
C0086972
Finding
5.

Psychosis

A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. [from HPO]

MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
6.

Manic bipolar I disorder

The manic phase of bipolar disorder. [from NCI]

MedGen UID:
7460
Concept ID:
C0024713
Mental or Behavioral Dysfunction
7.

Undiagnosed pathologic process

Refers to an underlying pathologic process that has not been identified. [from NCI]

MedGen UID:
810824
Concept ID:
C1408353
Finding
8.

Atypical psychosis

MedGen UID:
758791
Concept ID:
C3496177
Mental or Behavioral Dysfunction
9.

Illness

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

MedGen UID:
526241
Concept ID:
C0221423
Sign or Symptom
10.

History

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
11.

Major affective disorder 2

Bipolar disorder is a mental health condition that causes extreme shifts in mood, energy, and behavior. This disorder most often appears in late adolescence or early adulthood, although symptoms can begin at any time of life.People with bipolar disorder experience both dramatic "highs," called manic episodes, and "lows," called depressive episodes. These episodes can last from hours to weeks, and many people have no symptoms between episodes. Manic episodes are characterized by increased energy and activity, irritability, restlessness, an inability to sleep, and reckless behavior. Depressive episodes are marked by low energy and activity, a feeling of hopelessness, and an inability to perform everyday tasks. People with bipolar disorder often have repeated thoughts of death and suicide, and they have a much greater risk of dying by suicide than the general population.Manic and depressive episodes can include psychotic symptoms, such as false perceptions (hallucinations) or strongly held false beliefs (delusions). Mixed episodes, which have features of manic and depressive episodes at the same time, also occur in some affected individuals.Bipolar disorder often occurs with other mental health conditions, including anxiety disorders (such as panic attacks), behavioral disorders (such as attention-deficit hyperactivity disorder), and substance abuse. [from GTR]

MedGen UID:
326975
Concept ID:
C1839839
Mental or Behavioral Dysfunction
12.

Mania

A state of abnormally elevated or irritable mood, arousal, and or energy levels. [from HPO]

MedGen UID:
137909
Concept ID:
C0338831
Mental or Behavioral Dysfunction
13.

Family history

A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. [from NCI]

MedGen UID:
69143
Concept ID:
C0241889
Finding
14.

Bipolar and Related Disorders

These disorders are related to both SCHIZOPHRENIA SPECTRUM AND RELATED DISORDERS and DEPRESSIVE DISORDERS in terms of symptomatology, family history, and genetics. (DSM-V) . [from MeSH]

MedGen UID:
875788
Concept ID:
C4042924
Mental or Behavioral Dysfunction
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.

Psychotherapeutic agent

A classification of medication that acts on the central nervous system, affecting brain function, level of consciousness, mood, emotions, and behavior. [from NCI]

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

Tranquilizer

A traditional grouping of drugs said to have a soothing or calming effect on mood, thought, or behavior. Included here are the ANTI-ANXIETY AGENTS (minor tranquilizers), ANTIMANIC AGENTS, and the ANTIPSYCHOTIC AGENTS (major tranquilizers). These drugs act by different mechanisms and are used for different therapeutic purposes. [from MeSH]

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

Anti-psychotic agent

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

A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. [from NCI]

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