HNFJ1
MCID: HYP758
MIFTS: 39
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Hyperuricemic Nephropathy, Familial Juvenile, 1 (HNFJ1)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 1:
Name: Hyperuricemic Nephropathy, Familial Juvenile, 1
57
Characteristics:Orphanet epidemiological data:59
familial juvenile hyperuricemic nephropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset of hyperuricemia or gout in young adulthood HPO:32
hyperuricemic nephropathy, familial juvenile, 1:
Onset and clinical course juvenile onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Nephrological diseases |
OMIM
:
57
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.
(162000)
MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 1, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile, 3 and autosomal dominant tubulointerstitial kidney disease. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 1 is UMOD (Uromodulin), and among its related pathways/superpathways is Renin-angiotensin system. Affiliated tissues include kidney, liver and ovary, and related phenotypes are renal insufficiency and nephropathy Disease Ontology : 12 A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. UniProtKB/Swiss-Prot : 75 Familial juvenile hyperuricemic nephropathy 1: A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:162000Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 1:32
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MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 1:41
Kidney,
Liver,
Ovary
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Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 1:(show all 29)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:75 (show all 33)
ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 1:6 (show top 50) (show all 74)
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Search
GEO
for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile, 1.
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Pathways related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to KEGG:37
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Cellular components related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:
Biological processes related to Hyperuricemic Nephropathy, Familial Juvenile, 1 according to GeneCards Suite gene sharing:
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