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Hyperuricemia - anemia - renal failure

Orpha number ORPHA217330
Synonym(s) FJHN type 2
Familial juvenile hyperuricemic nephropathy type 2
REN-associated FJHN
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated kidney disease
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).


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Detailed information

Clinical genetics review
  • EN (2013)
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