MCID: HYP813
MIFTS: 24

Hyperuricemic Nephropathy, Familial Juvenile, 2

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

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile, 2

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

Name: Hyperuricemic Nephropathy, Familial Juvenile, 2 57 29 6
Hyperuricemic Nephropathy, Familial Juvenile 2 57 13 73
Hnfj2 57 75
Early-Onset Hyperuricemia, Anemia, and Progressive Kidney Failure 57
Ren-Related Autosomal Dominant Tubulointerstitial Kidney Disease 59
Early-Onset Hyperuricemia Anemia and Progressive Kidney Failure 75
Ren-Associated Familial Juvenile Hyperuricemic Nephropathy 59
Nephropathy, Hyperuricemic, Familial Juvenile, Type 2 40
Familial Juvenile Hyperuricemic Nephropathy Type 2 59
Familial Juvenile Hyperuricemic Nephropathy 2 75
Ren-Associated Kidney Disease 59
Ren-Associated Fjhn 59
Fjhn Type 2 59
Adtkd-Ren 59

Characteristics:

Orphanet epidemiological data:

59
ren-related autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hyperuricemic nephropathy, familial juvenile, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 613092
Orphanet 59 ORPHA217330
UMLS via Orphanet 74 C2751310
MedGen 42 C2751310
MeSH 44 D007674
UMLS 73 C2751310

Summaries for Hyperuricemic Nephropathy, Familial Juvenile, 2

UniProtKB/Swiss-Prot : 75 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 nephronophthisis. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile, 2 is REN (Renin). Affiliated tissues include kidney, and related phenotypes are renal hypoplasia and tubular atrophy

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 11.5
2 nephronophthisis 11.3
3 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.3
4 ren-related kidney disease 11.3

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile, 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
renal failure, slowly progressive
small echogenic kidneys
focal tubular atrophy
focal tubular dystrophy
focal and segmental glomerulosclerosis
more
Hematology:
anemia, mild


Clinical features from OMIM:

613092

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 32 HP:0000089
2 tubular atrophy 32 HP:0000092
3 focal segmental glomerulosclerosis 32 HP:0000097
4 anemia 32 HP:0001903
5 hyperuricemia 32 HP:0002149
6 hyperechogenic kidneys 32 HP:0004719
7 tubulointerstitial fibrosis 32 HP:0005576
8 chronic kidney disease 32 HP:0012622

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 29 REN

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile, 2

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

41
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:

75
# 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 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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