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Items: 1 to 20 of 22

1.

Substance-Related Disorder

A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). [from NCI]

MedGen UID:
66746
Concept ID:
C0236969
Mental or Behavioral Dysfunction
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.

Eating disorder

A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. [from NCI]

MedGen UID:
4434
Concept ID:
C0013473
Mental or Behavioral Dysfunction
4.

Psychiatric

MedGen UID:
851585
Concept ID:
C1548428
Finding
5.

Brain-Derived Neurotrophic Factor

Brain-derived neurotrophic factor (247 aa, ~28 kDa) is encoded by the human BDNF gene. This protein plays a role in both the development of the nervous system and neuronal survival. [from NCI]

MedGen UID:
760637
Concept ID:
C3486709
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Behavioral abnormality

An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. [from HPO]

MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
7.

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
8.

Behavioral symptoms

An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. [from HPO]

MedGen UID:
14048
Concept ID:
C0004941
Sign or Symptom
9.

Mood disorder

A category of psychiatric disorders which have as their most predominant feature a disturbance in mood. [from NCI]

MedGen UID:
99866
Concept ID:
C0525045
Mental or Behavioral Dysfunction
10.

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
11.

Methionine preparation

A sulfur-containing essential L-amino acid that is important in many body functions. [from MeSH]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Mental Disorders

MedGen UID:
910421
Concept ID:
CN240636
Disease or Syndrome
13.

Mood Disorders

MedGen UID:
881097
Concept ID:
CN236678
Disease or Syndrome
14.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function
15.

Eating and Feeding Disorders

A group of disorders characterized by physiological and psychological disturbances in appetite or food intake. [from MeSH]

MedGen UID:
875648
Concept ID:
C4042784
Mental or Behavioral Dysfunction
16.

Liquimeth

MedGen UID:
196144
Concept ID:
C0701428
Amino Acid, Peptide, or Protein; Pharmacologic Substance
17.

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
18.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
19.

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
20.

Pedameth

MedGen UID:
10615
Concept ID:
C0030749
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
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