MCID: HYP529
MIFTS: 15

Hyperuricemic Nephropathy, Familial Juvenile, 3

Categories: Nephrological diseases, Genetic diseases, Rare diseases, Metabolic 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 73
Hnfj3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperuricemic nephropathy, familial juvenile, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614227
MedGen 42 C3280216
UMLS 73 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 renal insufficiency and nephropathy

Description from OMIM: 614227

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 29.9 HNF1B HNFJ3

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 3

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
interstitial nephropathy
defective urinary concentrating ability
renal failure

Laboratory Abnormalities:
elevated serum uric acid concentrations


Clinical features from OMIM:

614227

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

32
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 nephropathy 32 HP:0000112

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

Variations for Hyperuricemic Nephropathy, Familial Juvenile, 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1B NM_000458.3(HNF1B): c.230_233delACGA (p.Asp77Glyfs) deletion Pathogenic GRCh38 Chromosome 17, 37744652: 37744655
2 HNF1B NM_000458.3(HNF1B): c.230_233delACGA (p.Asp77Glyfs) deletion Pathogenic GRCh37 Chromosome 17, 36104643: 36104646

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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