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Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
Familial juvenile hyperuricemic nephropathy type 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial juvenile hyperuricemic nephropathy type 1

MUC1
(UniProt - OMIM)
 UMOD
(UniProt - OMIM)
UMOD
(UniProt - OMIM)

COMMON
GENES 		UMOD


Citations in the biomedical literature:


Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD
Familial juvenile hyperuricemic nephropathy type 1



Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial juvenile hyperuricemic nephropathy type 1

Synonym(s):
- Autosomal dominant nephronophthisis
Synonym(s):
- FJHN type 1
- Familial juvenile gouty nephropathy
- Familial nephropathy with gout
- UMOD-associated FJHN
- UMOD-associated familial juvenile hyperuricemic nephropathy
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.