HNFJ3
MCID: HYP529
MIFTS: 17

Hyperuricemic Nephropathy, Familial Juvenile, 3 (HNFJ3)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 3

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

Name: Hyperuricemic Nephropathy, Familial Juvenile, 3 57 13 6 70
Hnfj3 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM® 57 614227
MedGen 41 C3280216
UMLS 70 C3280216

Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 3

OMIM® : 57 Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by Piret et al. (2011) is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, 162000). (614227) (Updated 20-May-2021)

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 3, also known as hnfj3, is related to tubulointerstitial kidney disease, autosomal dominant, 1. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 3 is HNF1B (HNF1 Homeobox B). Affiliated tissues include kidney, and related phenotypes are nephropathy and renal insufficiency

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 3

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 tubulointerstitial kidney disease, autosomal dominant, 1 9.5 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®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
renal failure
interstitial nephropathy
defective urinary concentrating ability

Laboratory Abnormalities:
elevated serum uric acid concentrations

Clinical features from OMIM®:

614227 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 3:

40
Kidney

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. 57
20976470 2011
2
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 57
19465746 2009
3
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. 57
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 Position
1 HNF1B NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) Deletion Pathogenic 446150 rs1555833071 GRCh37: 17:36104643-36104646
GRCh38: 17:37744652-37744655
2 HNF1B NM_000458.4(HNF1B):c.458A>G (p.His153Arg) SNV Likely pathogenic 636234 rs1598848762 GRCh37: 17:36099517-36099517
GRCh38: 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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