FJHN2
MCID: ATS492
MIFTS: 15

Autosomal Dominant Tubulointerstitial Kidney Disease - Ren (FJHN2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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

Name: Autosomal Dominant Tubulointerstitial Kidney Disease - Ren 25
Familial Juvenile Hyperuricemic Nephropathy Type 2 25
Adtkd-Ren 25
Fjhn2 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is age related. thus, in individuals with childhood-onset disease, manifestations of adtkd-ren, especially anemia, are evident early in life; and in individuals with adult-onset disease, manifestations (gout and chronic kidney disease) do not become evident until adulthood.

Classifications:



Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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

GeneReviews: NBK53700

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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

40
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease - Ren:

(show all 30)
# Title Authors PMID Year
1
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. 25
32750457 2020
2
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease. 25
31586593 2019
3
Discovery of a Novel Mutation in the REN Gene in Patient With Chronic Progressive Kidney Disease of Unknown Etiology Presenting With Acute Spontaneous Carotid Artery Dissection. 25
31371142 2019
4
Autosomal dominant tubulointerstitial kidney disease. 25
31488840 2019
5
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein. 25
31406136 2019
6
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. 25
28701203 2017
7
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. 25
28267784 2017
8
Timing, rates and spectra of human germline mutation. 25
26656846 2016
9
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 25
25738250 2015
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
11
Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity. 25
23840514 2013
12
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. 25
21903317 2011
13
Anemia treatment with erythropoietin in pregnant renal recipients. 25
21996203 2011
14
Potential teratogenic effects of allopurinol: a case report. 25
21815259 2011
15
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. 25
21084044 2010
16
Hereditary interstitial kidney disease. 25
20807609 2010
17
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 25
19664745 2009
18
Maternal corticosteroid use and orofacial clefts. 25
18060943 2007
19
Physiology of local renin-angiotensin systems. 25
16816138 2006
20
Analysis of excretion fraction of uric acid. 25
17065111 2006
21
Chromosomal abnormalities and birth defects among couples with colchicine treated familial Mediterranean fever. 25
16202748 2005
22
Ablation of renin-expressing juxtaglomerular cells results in a distinct kidney phenotype. 25
14563659 2004
23
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. 25
9686952 1998
24
Abnormal serum uric acid levels in children. 25
8648529 1996
25
Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. 25
1873940 1991
26
Cloning and sequence analysis of cDNA for human renin precursor. 25
6324167 1983
27
Plasma uric acid levels in children. 25
5356987 1969
28
THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960. 25
14320691 1965
29
Autosomal Dominant Tubulointerstitial Kidney Disease – REN 61
21473025 2011
30
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. 61
12634862 2003

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

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

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

Biological processes related to Autosomal Dominant Tubulointerstitial Kidney Disease - Ren according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.16 UMOD REN
2 response to lipopolysaccharide GO:0032496 8.96 UMOD REN
3 kidney development GO:0001822 8.62 UMOD REN

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease - Ren

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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