HNFJ2
MCID: HYP813
MIFTS: 24

Hyperuricemic Nephropathy, Familial Juvenile, 2 (HNFJ2)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 2

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile, 2:

Name: Hyperuricemic Nephropathy, Familial Juvenile, 2 58 30 6
Hyperuricemic Nephropathy, Familial Juvenile 2 58 13 74
Hnfj2 58 76
Early-Onset Hyperuricemia, Anemia, and Progressive Kidney Failure 58
Ren-Related Autosomal Dominant Tubulointerstitial Kidney Disease 60
Early-Onset Hyperuricemia Anemia and Progressive Kidney Failure 76
Ren-Associated Familial Juvenile Hyperuricemic Nephropathy 60
Nephropathy, Hyperuricemic, Familial Juvenile, Type 2 41
Familial Juvenile Hyperuricemic Nephropathy Type 2 60
Familial Juvenile Hyperuricemic Nephropathy 2 76
Ren-Associated Kidney Disease 60
Ren-Associated Fjhn 60
Fjhn Type 2 60
Adtkd-Ren 60

Characteristics:

Orphanet epidemiological data:

60
ren-related autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe


HPO:

33
hyperuricemic nephropathy, familial juvenile, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

OMIM 58 613092
MeSH 45 D007674
UMLS via Orphanet 75 C2751310
Orphanet 60 ORPHA217330
MedGen 43 C2751310
UMLS 74 C2751310

Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 2

UniProtKB/Swiss-Prot : 76 Familial juvenile hyperuricemic nephropathy 2: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia.

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile, 2, also known as hyperuricemic nephropathy, familial juvenile 2, is related to autosomal dominant tubulointerstitial kidney disease and autosomal dominant tubulointerstitial kidney disease due to ren mutations. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 2 is REN (Renin). Affiliated tissues include kidney, and related phenotypes are anemia and hyperuricemia

Description from OMIM: 613092

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease 11.6
2 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.5
3 ren-related kidney disease 11.5
4 nephronophthisis 11.5
5 autosomal dominant tubulointerstitial kidney disease, ren-related 11.4
6 hyperuricemic nephropathy, familial juvenile, 1 10.2

Graphical network of the top 20 diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 2:



Diseases related to Hyperuricemic Nephropathy, Familial Juvenile, 2

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 2

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile, 2:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 anemia 33 HP:0001903
2 hyperuricemia 33 HP:0002149
3 renal hypoplasia 33 HP:0000089
4 chronic kidney disease 33 HP:0012622
5 tubular atrophy 33 HP:0000092
6 focal segmental glomerulosclerosis 33 HP:0000097
7 tubulointerstitial fibrosis 33 HP:0005576
8 hyperechogenic kidneys 33 HP:0004719

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
hyperuricemia
interstitial fibrosis
renal failure, slowly progressive
small echogenic kidneys
focal tubular atrophy
more
Hematology:
anemia, mild

Clinical features from OMIM:

613092

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile, 2

Search Clinical Trials , NIH Clinical Center for Hyperuricemic Nephropathy, Familial Juvenile, 2

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile, 2

Genetic tests related to Hyperuricemic Nephropathy, Familial Juvenile, 2:

# Genetic test Affiliating Genes
1 Hyperuricemic Nephropathy, Familial Juvenile, 2 30 REN

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 2

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile, 2:

42
Kidney

Publications for Hyperuricemic Nephropathy, Familial Juvenile, 2

Articles related to Hyperuricemic Nephropathy, Familial Juvenile, 2:

# Title Authors Year
1
Familial Juvenile Hyperuricemic Nephropathy Type 2 ( 21473025 )
1993

Variations for Hyperuricemic Nephropathy, Familial Juvenile, 2

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 2:

76
# Symbol AA change Variation ID SNP ID
1 REN p.Leu16Arg VAR_063770 rs121917743

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REN REN, 3-BP DEL, 45GCT deletion Pathogenic
2 REN NM_000537.3(REN): c.47T> G (p.Leu16Arg) single nucleotide variant Pathogenic rs121917743 GRCh37 Chromosome 1, 204135375: 204135375
3 REN NM_000537.3(REN): c.47T> G (p.Leu16Arg) single nucleotide variant Pathogenic rs121917743 GRCh38 Chromosome 1, 204166247: 204166247
4 REN NM_000537.3(REN): c.47T> A (p.Leu16His) single nucleotide variant Likely pathogenic rs121917743 GRCh37 Chromosome 1, 204135375: 204135375
5 REN NM_000537.3(REN): c.47T> A (p.Leu16His) single nucleotide variant Likely pathogenic rs121917743 GRCh38 Chromosome 1, 204166247: 204166247

Expression for Hyperuricemic Nephropathy, Familial Juvenile, 2

Search GEO for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile, 2.

Pathways for Hyperuricemic Nephropathy, Familial Juvenile, 2

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile, 2

Sources for Hyperuricemic Nephropathy, Familial Juvenile, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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