Iga nephropathy, susceptibility to, 1

Preferred Label : Iga nephropathy, susceptibility to, 1;

Symbol : IGAN1;

CISMeF acronym : IGAN; IGAN1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Nephritis, iga type; Berger disease; IGAN;

Description : 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 6q22-q23, was described by Gharavi et al. (2000). Another locus, IGAN2 (613944), was identified by Paterson et al. (2007) on chromosome 2q36. Polymorphisms in the ACE (106180) and AGT (106150) genes have been associated with progression to chronic renal failure in patients with IgA nephropathy.;

Inheritance : ?Autosomal dominant;

Laboratory abnormalities : Hematuria, macroscopic and microscopic; Proteinuria;

Prefixed ID : %161950;

Details

Origin ID

161950;

UMLS CUI

C3160719;

Currated CISMeF NLP mapping
- Berger disease [TUV Concept]
- Berger disease [ORDO Disease]
- Glomerular disease with IgA disease [ICD-11 More detail]
- IgA Nephropathy [NCIt concept]
- IgA deposition in the glomerulus [HPO term]
- IgA glomerular nephropathy [PASCAL descriptor]
- IgA nephropathy [MedDRA Preferred Term]
- Immunoglobulin A nephropathy (disorder) [SNOMED CT concept]
- glomerulonephritis, iga [MeSH Descriptor]
- immunoglobulin A nephropathy [Disease (Nov.)]
- primary iga nephropathy [SNOMED Notion]
DO Cross reference
- IgA glomerulonephritis [DO Concept]
False automatic mappings
- Berger disease [TUV Term]
- Berger's disease [MedDRA LLT]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hematuria [HPO term]
- Heterogeneous [HPO term]
- Hypertension [HPO term]
- IgA deposition in the glomerulus [HPO term]
- Nephritis [HPO term]
- Proteinuria [HPO term]
- Purpura [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Berger disease [ORDO Disease]
See also inter- (CISMeF)
- glomerulonephritis, IGA [MeSH concept]
Semantic type(s)
- Finding [UMLS semantic type]

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