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Items: 14

1.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
2.

Arthritis

Inflammation of a joint. [from HPO]

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
3.

Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS. [from GeneReviews]

MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
4.

Progressive

Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. [from HPO]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
5.

Stiff-man syndrome

The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder. [from OMIM]

MedGen UID:
39017
Concept ID:
C0085292
Disease or Syndrome
6.

Rheumatoid arthritis

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
7.

Polyarticular arthritis

An arthritis affecting five or more separate joints. [from NCI]

MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
8.

Arthropathy

Any disorder of the joints. [from NCI]

MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
9.

Musculoskeletal system disease

A non-neoplastic or neoplastic disorder that affects muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
10.

Autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [from NCI]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
11.

Connective tissue disease

A non-neoplastic or neoplastic disorder that affects the connective tissue. [from NCI]

MedGen UID:
1098
Concept ID:
C0009782
Disease or Syndrome
12.

Piroxicam response

Piroxicam (brand name Feldene) is a nonsteroidal anti-inflammatory drug (NSAID) used to treat osteoarthritis and rheumatoid arthritis. Piroxicam provides pain relief and reduces inflammation. Piroxicam is primarily metabolized by CYP2C9. Individuals who lack CYP2C9 activity ("CYP2C9 poor metabolizers") have an increased exposure to piroxicam, and an increased risk of side effects. Like all NSAIDs, piroxicam increases the risk of serious cardiovascular events, including myocardial infarction and stroke, and serious gastrointestinal (GI) adverse events such as bleeding, ulceration, and perforation. The standard dose of piroxicam for osteoarthritis and rheumatoid arthritis in adults is 20 mg once daily. But for all patients, the lowest effective dose of piroxicam should be used for the shortest length of time, consistent with the treatment goals of each individual. The FDA-approved drug label for piroxicam states that a dose reduction should be considered in "patients who are known or suspected to be poor CYP2C9 metabolizers based on genotype or previous history/experience with other CYP2C9 substrates (such as warfarin and phenytoin)". Dose reductions should be considered because these patients may have abnormally high plasma levels of piroxicam caused by reduced metabolic clearance. However, specific dose reductions based on CYP2C9 phenotype are not provided. As for all NSAIDs, piroxicam is contraindicated in patients with a known hypersensitivity, a history of asthma, urticaria, or other allergic-type reactions after taking aspirin or another NSAID, and following coronary artery bypass graft (CABG) surgery. Piroxicam should also be avoided by pregnant women starting at 30 weeks gestation. [from Medical Genetics Summaries]

MedGen UID:
941224
Concept ID:
CN258188
Sign or Symptom
13.

Articular cartilage disease

A disease involving the articular cartilage of joint. [from MONDO]

MedGen UID:
510440
Concept ID:
C0158073
Disease or Syndrome
14.

Azathioprine response

The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine. They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from PharmGKB]

MedGen UID:
450431
Concept ID:
CN077959
Sign or Symptom
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