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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.

Personality disorder

A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. [from NCI]

MedGen UID:
45827
Concept ID:
C0031212
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.

Childhood-Onset Schizophrenia

An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS. [from MeSH]

MedGen UID:
48576
Concept ID:
C0036346
Mental or Behavioral Dysfunction
5.

Schizotypal personality disorder

A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. [from NCI]

MedGen UID:
20666
Concept ID:
C0036363
Mental or Behavioral Dysfunction
6.

Paranoid schizophrenia

A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination. [from MeSH]

MedGen UID:
20664
Concept ID:
C0036349
Mental or Behavioral Dysfunction
7.

Avoidant personality disorder

A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. [from NCI]

MedGen UID:
13985
Concept ID:
C0004444
Mental or Behavioral Dysfunction
8.

Psychiatric

MedGen UID:
851585
Concept ID:
C1548428
Finding
9.

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
10.

Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. [from HPO]

MedGen UID:
506017
Concept ID:
CN006126
Finding
11.

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
12.

Schizophrenia 4

MedGen UID:
371517
Concept ID:
C1833247
Disease or Syndrome
13.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
14.

Childhood onset

Onset of disease at the age of between 1 and 5 years. [from HPO]

MedGen UID:
324746
Concept ID:
C1837352
Finding
15.

Attention deficit hyperactivity disorder

A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V) [from MeSH]

MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
16.

Hyperactivity

Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders. [from MeSH]

MedGen UID:
98406
Concept ID:
C0424295
Finding; Mental or Behavioral Dysfunction
17.

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
18.

Onset

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

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
19.

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
20.

Neurodevelopmental disorder

Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

MedGen UID:
453059
Concept ID:
C1535926
Mental or Behavioral Dysfunction
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