FJHN2
MCID: ATS311
MIFTS: 15

Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related (FJHN2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 24
Early-Onset Hyperuricemia, Anemia, Progressive Tubulointerstitial Nephropathy 24
Familial Juvenile Hyperuricemic Nephropathy Type 2 24
Adtkd-Ren 24
Fjhn2 24

Characteristics:

GeneReviews:

24
Penetrance All affected individuals who have undergone genetic testing have been found to have anemia in childhood, hyperuricemia, and chronic kidney disease....

Classifications:



Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related, also known as early-onset hyperuricemia, anemia, progressive tubulointerstitial nephropathy, is related to kidney disease and hyperuricemia. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related is REN (Renin). Affiliated tissues include kidney and testes, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

GeneReviews: NBK53700

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 kidney disease 29.7 UMOD REN
2 hyperuricemia 29.6 UMOD REN
3 autosomal dominant tubulointerstitial kidney disease due to ren mutations 12.1
4 nephronophthisis 11.6
5 hyperuricemic nephropathy, familial juvenile, 1 10.4
6 hyperuricemic nephropathy, familial juvenile, 2 10.4
7 gout 10.4
8 end stage renal failure 10.4
9 autosomal dominant tubulointerstitial kidney disease 10.4
10 bartter disease 9.6 UMOD REN
11 vesicoureteral reflux 1 9.6 UMOD REN
12 interstitial nephritis 9.5 UMOD REN
13 urinary tract obstruction 9.5 UMOD REN
14 urinary system disease 9.2 UMOD REN

Graphical network of the top 20 diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related:



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease,...

GenomeRNAi Phenotypes related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.92 REN UMOD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.92 REN UMOD

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards organs/tissues related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related:

41
Kidney, Testes

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related:

(show all 20)
# Title Authors PMID Year
1
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 4
25738250 2015
2
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 4
23396133 2013
3
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. 4
21903317 2011
4
Nephronophthisis. 4
20652329 2011
5
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. 4
21084044 2010
6
Hereditary interstitial kidney disease. 4
20807609 2010
7
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 4
19664745 2009
8
Physiology of local renin-angiotensin systems. 4
16816138 2006
9
Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. 4
16395272 2006
10
Analysis of excretion fraction of uric acid. 4
17065111 2006
11
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 4
16116425 2005
12
Ablation of renin-expressing juxtaglomerular cells results in a distinct kidney phenotype. 4
14563659 2004
13
Abnormal serum uric acid levels in children. 4
8648529 1996
14
A mutant renin gene in familial elevation of prorenin. 4
7982942 1994
15
The nephronophthisis complex: clinical and genetic aspects. 4
1450635 1992
16
Cloning and sequence analysis of cDNA for human renin precursor. 4
6324167 1983
17
Plasma uric acid levels in children. 4
5356987 1969
18
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 4
14320691 1965
19
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related 38
21473025 2011
20
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. 38
12634862 2003

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Search GEO for disease gene expression data for Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related.

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease,...

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease,...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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