Tubulointerstitial kidney disease, autosomal dominant, 1

Preferred Label : Tubulointerstitial kidney disease, autosomal dominant, 1;

Symbol : ADTKD1;

CISMeF acronym : FJHN; HNFJ; HNFJ1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ADMCKD2; Familial juvenile hyperuricemic nephropathy; Gouty nephropathy, familial juvenile; FJHN; HNFJ1; Medullary cystic kidney disease 2, autosomal dominant; MCKD2; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Hyperuricemic nephropathy, familial juvenile, 1; Medullary cystic kidney disease 2;

Description : Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is an autosomal dominant disorder characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure (summary by Piret et al., 2011). A form of medullary cystic kidney disease (MCKD2; 603860) is also caused by mutation in the UMOD gene, as is a form of glomerulocystic kidney disease (609886) with hyperuricemia and isosthenuria. - Genetic Heterogeneity of Familial Juvenile Hyperuricemic Nephropathy Familial juvenile hyperuricemic nephropathy-2 (HNFJ2; 613092) is caused by mutation in the renin gene (REN; 179820) on chromosome 1q32. HNFJ3 (614227) has been mapped to chromosome 2p22.1-p21. An atypical form of HNFJ, associated with renal cysts and diabetes, is caused by mutation in the HNF1B gene (189907) on chromosome 17q12.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the uromodulin gene (UMOD, 191845.0001);

Laboratory abnormalities : Decreased urinary excretion of uromodulin;

Prefixed ID : #162000;

Details

Origin ID

162000;

UMLS CUI

C4551496;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- HNF1B wt Allele [NCIt concept]
- UMOD-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Broader ORDO disease(s)
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Familial juvenile gout (disorder) [SNOMED CT concept]
- Familial juvenile hyperuricaemic nephropathy [ICD-11 More detail]
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
- familial juvenile gout [SNOMED Notion]
- familial juvenile hyperuricemic nephropathy [Disease (Nov.)]
- familial juvenile hyperuricemic nephropathy [DO Concept]
- juvenile gout [MeSH concept]
- juvenile gout [MeSH Supplementary Concept]
DO Cross reference
- familial juvenile hyperuricemic nephropathy [DO Concept]
Genes related to phenotype
- Uromodulin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Gout [HPO term]
- Hyperuricemia [HPO term]
- Juvenile onset [HPO term]
- Nephritis [HPO term]
- Nephropathy [HPO term]
- Progressive [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
ORDO concept(s)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
- UMOD-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial juvenile gout (disorder) [SNOMED CT concept]
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
- familial juvenile gout [SNOMED Notion]
- juvenile gout [MeSH concept]
- juvenile gout [MeSH Supplementary Concept]

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