Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 24

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.

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.

Dyslalia

MedGen UID:
488483
Concept ID:
C3495145
Mental or Behavioral Dysfunction
4.

Dysglossia

MedGen UID:
199675
Concept ID:
C0751512
Sign or Symptom
5.

Rhinolalia

MedGen UID:
155575
Concept ID:
C0751513
Sign or Symptom
6.

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
7.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
8.

Aprosodic speech

MedGen UID:
115930
Concept ID:
C0233726
Sign or Symptom
9.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom
10.

Perceptual Disorder

Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. [from MeSH]

MedGen UID:
45392
Concept ID:
C0030975
Mental or Behavioral Dysfunction
11.

Language impairment

A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. [from NCI]

MedGen UID:
44069
Concept ID:
C0023015
Mental or Behavioral Dysfunction
12.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding
13.

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
14.

Neurological speech impairment

A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. [from NCI]

MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
15.

Ambidextrous

MedGen UID:
8008
Concept ID:
C0002416
Finding
16.

Communication disorder

A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. [from NCI]

MedGen UID:
3549
Concept ID:
C0009460
Mental or Behavioral Dysfunction
17.

Cluttering

MedGen UID:
3131
Concept ID:
C0009090
Sign or Symptom
18.

Articulation disorder

Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes. [from MeSH]

MedGen UID:
2081
Concept ID:
C0003910
Mental or Behavioral Dysfunction
19.

Unintelligible articulation

MedGen UID:
107885
Concept ID:
C0566625
Finding
20.

Handedness finding

MedGen UID:
709088
Concept ID:
C1286612
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center