FJHN2
MCID: ATS311
MIFTS: 18

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

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare 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 52
Familial Juvenile Hyperuricemic Nephropathy Type 2 24 52
Adtkd-Ren 24 52
Early-Onset Hyperuricemia, Anemia, Progressive Tubulointerstitial Nephropathy 24
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 52
Ren-Associated Familial Juvenile Hyperuricemic Nephropathy 52
Hyperuricemic Nephropathy, Familial Juvenile 2 52
Ren-Associated Kidney Disease 52
Adtkd Due to Ren Mutations 52
Ren-Associated Fjhn 52
Fjhn Type 2 52
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,...

NIH Rare Diseases : 52 Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is an inherited disorder that causes anemia , mildly low blood pressure, and an increased chance to develop kidney failure in childhood. In the teenage years, patients may develop a painful type of arthritis called gout. As an adult, the anemia improves but patients develop slowly progressive chronic kidney disease, which may lead to the need for dialysis or kidney transplantation between 40 and 80 years of age. ADTKD-REN is caused by a mistake (mutation) in one copy of the REN gene . This mistake leads to a decreased production of normal renin and the deposition of abnormal renin in kidney cells , leading to slow loss of kidney function. ADTKD-REN is inherited in families in an autosomal dominant pattern. It is diagnosed based on the symptoms, family history and genetic testing . Many of the symptoms of ADTKD-REN can be treated with medicines. For patients who develop end-stage kidney failure , dialysis or kidney transplant can be performed. Patients with this condition generally have a good long-term outlook, although individuals with ADTKD-REN may require kidney transplant or dialysis later in life.

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related, also known as familial juvenile hyperuricemic nephropathy type 2, is related to autosomal dominant tubulointerstitial kidney disease and kidney disease. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related is REN (Renin). Affiliated tissues include kidney and testes.

GeneReviews: NBK53700

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

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Hnf1b-Related 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 26)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease 30.1 UMOD REN
2 kidney disease 30.1 UMOD REN
3 hyperuricemia 29.9 UMOD REN
4 ren-related kidney disease 11.6
5 nephronophthisis 11.6
6 hyperuricemic nephropathy, familial juvenile, 1 10.3
7 hyperuricemic nephropathy, familial juvenile, 2 10.3
8 gout 10.3
9 congenital anomalies of kidney and urinary tract 2 9.7 UMOD REN
10 chronic pyelonephritis 9.7 UMOD REN
11 pyelitis 9.7 UMOD REN
12 acute kidney tubular necrosis 9.7 UMOD REN
13 bartter disease 9.7 UMOD REN
14 acute cystitis 9.7 UMOD REN
15 interstitial nephritis 9.7 UMOD REN
16 acute kidney failure 9.7 UMOD REN
17 urinary tract obstruction 9.7 UMOD REN
18 cakut 9.6 UMOD REN
19 vesicoureteral reflux 1 9.6 UMOD REN
20 polycystic kidney disease 1 with or without polycystic liver disease 9.6 UMOD REN
21 cystic kidney disease 9.6 UMOD REN
22 end stage renal disease 9.5 UMOD REN
23 nephrocalcinosis 9.5 UMOD REN
24 urinary system disease 9.5 UMOD REN
25 chronic kidney disease 9.4 UMOD REN
26 diabetes mellitus, type i 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,...

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:

40
Kidney, Testes

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

(show all 19)
# Title Authors PMID Year
1
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 52 24
25738250 2015
2
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 24
23396133 2013
3
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. 24
21903317 2011
4
Nephronophthisis. 24
20652329 2011
5
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. 24
21084044 2010
6
Hereditary interstitial kidney disease. 24
20807609 2010
7
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 24
19664745 2009
8
Physiology of local renin-angiotensin systems. 24
16816138 2006
9
Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. 24
16395272 2006
10
Analysis of excretion fraction of uric acid. 24
17065111 2006
11
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 24
16116425 2005
12
Ablation of renin-expressing juxtaglomerular cells results in a distinct kidney phenotype. 24
14563659 2004
13
Abnormal serum uric acid levels in children. 24
8648529 1996
14
A mutant renin gene in familial elevation of prorenin. 24
7982942 1994
15
The nephronophthisis complex: clinical and genetic aspects. 24
1450635 1992
16
Cloning and sequence analysis of cDNA for human renin precursor. 24
6324167 1983
17
Plasma uric acid levels in children. 24
5356987 1969
18
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 24
14320691 1965
19
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related 61
21473025 2011

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,...

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