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Items: 11

1.

Tardive dyskinesia

Tardive dyskinesia is a debilitating motor disorder manifest as hyperkinetic, involuntary, repetitive movements predominantly of the orofacial region. It is a complication of treatment with so-called typical antipsychotic or neuroleptic agents, such as chlorpromazine or haloperidol, and is estimated to occur in 20 to 30% of chronic schizophrenics on long-term treatment (Thelma et al., 2008). [from GTR]

MedGen UID:
151939
Concept ID:
C0686347
Disease or Syndrome
2.

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
3.

Tardive dyskinesia

MedGen UID:
830706
Concept ID:
CN225400
Finding
4.

Tardive dyskinesia

MedGen UID:
811464
Concept ID:
C3714760
Disease or Syndrome
5.

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
6.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
7.

Chronic schizophrenia

MedGen UID:
66383
Concept ID:
C0221765
Mental or Behavioral Dysfunction
8.

Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [from HPO]

MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
9.

Trilafon

MedGen UID:
195903
Concept ID:
C0699490
Organic Chemical; Pharmacologic Substance
10.

Perphenazine

A phenothiazine derivative and a dopamine antagonist with antiemetic and antipsychotic properties. Perphenazine blocks postsynaptic dopamine 2(D2) receptors in the mesolimbic and medullary chemoreceptor trigger zone (CTZ), thereby preventing the excess of dopamine in the brain. This leads to reduction in psychotic symptoms, such as hallucinations and delusions. Perphenazine appears to exert its antiemetic activity by blocking the dopamine and histamine-1 receptor in the CTZ thereby relieving nausea and vomiting in the brain. In addition, perphenazine binds to alpha-adrenergic receptors. [from NCI]

MedGen UID:
18393
Concept ID:
C0031184
Organic Chemical; Pharmacologic Substance
11.

Abnormal involuntary movement

dyskinesia due to extrapyramidal disorder; as a general rule, symptoms are absent during sleep, reduced with relaxation, and increased with stress. [from CRISP]

MedGen UID:
98232
Concept ID:
C0392702
Disease or Syndrome
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