MCID: ATS404
MIFTS: 12

Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 20
Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 20
Ren-Associated Familial Juvenile Hyperuricemic Nephropathy 20
Familial Juvenile Hyperuricemic Nephropathy Type 2 20
Hyperuricemic Nephropathy, Familial Juvenile 2 20
Ren-Associated Kidney Disease 20
Adtkd Due to Ren Mutations 20
Ren-Associated Fjhn 20
Fjhn Type 2 20
Adtkd-Ren 20

Classifications:



Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

GARD : 20 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 Due to Ren Mutations, also known as autosomal dominant tubulointerstitial kidney disease, ren-related, is related to ren-related kidney disease and tubulointerstitial kidney disease, autosomal dominant, 4. Affiliated tissues include kidney.

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

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



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

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

40
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations:

# Title Authors PMID Year
1
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 20
25738250 2015
2
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. 61
32750457 2020

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Search GEO for disease gene expression data for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations.

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren...

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease Due to 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....