HNFJ3
MCID: HYP529
MIFTS: 17

Hyperuricemic Nephropathy, Familial Juvenile, 3 (HNFJ3)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 3

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 3:

Name: Hyperuricemic Nephropathy, Familial Juvenile, 3 56 13 6 71
Hnfj3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hyperuricemic nephropathy, familial juvenile, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614227
OMIM Phenotypic Series 56 PS162000
MedGen 41 C3280216
UMLS 71 C3280216

Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 3

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 3, also known as hnfj3, is related to hyperuricemic nephropathy, familial juvenile, 1. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 3 is HNF1B (HNF1 Homeobox B). Related phenotypes are nephropathy and renal insufficiency

More information from OMIM: 614227 PS162000

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 3

Diseases in the Hyperuricemic Nephropathy, Familial Juvenile, 1 family:

Hyperuricemic Nephropathy, Familial Juvenile, 2 Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemic Nephropathy, Familial Juvenile, 4

Diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperuricemic nephropathy, familial juvenile, 1 30.8 HNFJ3 HNF1B

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 3

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 3:

31
# Description HPO Frequency HPO Source Accession
1 nephropathy 31 HP:0000112
2 renal insufficiency 31 HP:0000083

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
renal failure
interstitial nephropathy
defective urinary concentrating ability

Laboratory Abnormalities:
elevated serum uric acid concentrations

Clinical features from OMIM:

614227

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 3

Search Clinical Trials , NIH Clinical Center for Hyperuricemic Nephropathy, Familial Juvenile, 3

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile, 3

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 3

Publications for Hyperuricemic Nephropathy, Familial Juvenile, 3

Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 3:

# Title Authors PMID Year
1
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. 56
20976470 2011
2
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 56
19465746 2009
3
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. 56
12519891 2003

Variations for Hyperuricemic Nephropathy, Familial Juvenile, 3

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1B NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)deletion Pathogenic 446150 rs1555833071 17:36104643-36104646 17:37744652-37744655
2 HNF1B NM_000458.4(HNF1B):c.458A>G (p.His153Arg)SNV Likely pathogenic 636234 17:36099517-36099517 17:37739526-37739526

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 3

Search GEO for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile, 3.

Pathways for Hyperuricemic Nephropathy, Familial Juvenile, 3

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile, 3

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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