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Items: 5

1.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
898017
Concept ID:
C1408258
Finding
2.

IgA deposition in the glomerulus

MedGen UID:
892365
Concept ID:
C4025827
Finding
3.

IgA

IgA is the immunoglobulin subclass that is associated with antibody-mediated mucosal immunity. It is secreted as dimers into the mucosa and is the most effective isotype at fixing complement by the alternative pathway, even though it lacks the ability to fix complement by the classical pathway. There are two subtypes in the human - IgA1 and IgA2. [from NCI]

MedGen UID:
442957
Concept ID:
C2825347
Immunologic Factor; Pharmacologic Substance
4.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
5.

Berger disease

End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide, affecting up to 1.3% of the population. Kidneys of patients with IgA nephropathy show deposits of IgA-containing immune complexes with proliferation of the glomerular mesangium. Typical clinical features include onset before age 40 with hematuria and proteinuria, and episodes of gross hematuria following mucosal infections are common; 30% of patients develop progressive renal failure. Although not generally considered a hereditary disease, striking ethnic variation in prevalence (Julian et al., 1985; D'Amico, 1987) and familial clustering (Scolari et al., 1999), along with subclinical renal abnormalities among relatives of cases, suggest a genetic component (Gharavi et al., 2000). Genetic Heterogeneity of IgA Nephropathy A locus for familial IgA nephropathy, called IGAN1, on chromosome 6q22-q23, was described by Gharavi et al. (2000). Another locus, IGAN2 (613944), was identified by Paterson et al. (2007) on chromosome 2q36. IGAN3 (616818) is caused by mutation in the SPRY2 gene (602466) on chromosome 13q31. Polymorphisms in the ACE (106180) and AGT (106150) genes have been associated with progression to chronic renal failure in patients with IgA nephropathy. [from GTR]

MedGen UID:
9032
Concept ID:
C0017661
Disease or Syndrome
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