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1.

Bipolar affective disorder

Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, up, and active to very sad and hopeless, down, and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role. Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime. If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes. If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
2649
Concept ID:
C0005586
Mental or Behavioral Dysfunction
2.

Bipolar

MedGen UID:
912721
Concept ID:
CN244029
Finding
3.

Major affective disorder 1

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 GHR]

MedGen UID:
377615
Concept ID:
C1852197
Mental or Behavioral Dysfunction
4.

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
5.

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 Medical Genetics Summaries]

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
6.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Schizoaffective Disorder

Mental disorder characterized by the presence of both affective disorder and schizophrenia-like symptoms. [from PSY]

MedGen UID:
11334
Concept ID:
C0036337
Mental or Behavioral Dysfunction
8.

Mental Depression

Depression is a serious medical illness. It's more than just a feeling of being sad or blue for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include. -Feeling sad or empty. -Loss of interest in favorite activities. -Overeating, or not wanting to eat at all. -Not being able to sleep, or sleeping too much. -Feeling very tired. -Feeling hopeless, irritable, anxious, or guilty. -Aches or pains, headaches, cramps, or digestive problems. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, biological, environmental, and psychological factors. Depression can happen at any age, but it often begins in teens and young adults. It is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants, talk therapy, or both. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
8325
Concept ID:
C0011570
Mental or Behavioral Dysfunction
9.

Depression

A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. [from HPO]

MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
10.

Depressive Disorder

MedGen UID:
881121
Concept ID:
CN236658
Disease or Syndrome
11.

Depression

MedGen UID:
881016
Concept ID:
CN236657
Disease or Syndrome
12.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
13.

Very large

MedGen UID:
623617
Concept ID:
C0450093
Finding
14.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
15.

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
16.

Highly variable clinical phenotype

A variability of phenotypic features. [from HPO]

MedGen UID:
374117
Concept ID:
C1839039
Finding
17.

Major depressive disorder

Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation. [from MeSH]

MedGen UID:
266123
Concept ID:
C1269683
Mental or Behavioral Dysfunction
18.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
19.

Mood disorder

Most people feel sad or irritable from time to time. They may say they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional state. Nearly one in ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called manic depression). Mood disorders can increase a person's risk for heart disease, diabetes, and other diseases. Treatments include medication, psychotherapy, or a combination of both. With treatment, most people with mood disorders can lead productive lives.  [from MedlinePlus]

MedGen UID:
99866
Concept ID:
C0525045
Mental or Behavioral Dysfunction
20.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
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