MCKD
MCID: ATS382
MIFTS: 26

Autosomal Dominant Tubulointerstitial Kidney Disease (MCKD)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease 53 59 37
Autosomal Dominant Medullary Cystic Kidney Disease 53 59
Adtkd 53 59
Mckd 53 59
Nephronophthisis - Medullary Cystic Disease 73
Medullary Cystic Kidney Disease 1 73

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA34149
ICD10 via Orphanet 34 Q61.5
KEGG 37 H00541

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease

NIH Rare Diseases : 53 Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease (often becoming apparent by the teenage years) that ultimately results in end-stage kidney disease at some time between the ages of 20 and 70, depending on the genetic cause and severity.  Urine exams of people with ADTKD show a bland urinary sediment (little blood or little or no protein). Kidney ultrasound examination is generally normal early in the disease course, but some people with ADTKD have cysts in the center of the kidneys (medullary cysts) that may be seen on an ultrasound. There are 3 known subtypes of ADTKD, which are classified based on their genetic causes and presence of additional features:UMOD-related autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD) or uromodulin kidney disease (formerly known as UMOD-associated kidney disease, familial juvenile hyperuricemic nephropathy type 1, medullary cystic kidney disease type 2 (MCKD2), and uromodulin storage disease)- caused by a mutation in the UMOD gene. This is the most common subtype.  The age of onset varies but kidney problems are usually noted in adolescence,and may progress to end-stage renal disease (ESRD) between the fourth and seventh decades of life. High levels of uric acid in the blood (hyperuricemia) and gout (a form of arthritis), sometimes occur as early as the teenage years. REN-related autosomal dominant tubulointerstitial kidney disease (ADTKD-REN) (previously known as  "familial juvenile hyperuricemic nephropathy type 2") - caused by a mutation in the REN gene. Kidney disease is usually present in childhood. Many people with this subtype also have anemia in childhood (even before kidney disease begins), low or low-normal blood pressure, mildly high levels of potassium in the blood (hyperkalemia), hyperuricemia and gout.  MUC1-related autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1) or Mucin-1 kidney disease or MKD (formerly known as medullary cystic kidney disease type 1) - caused by a mutation in the MUC1 gene.  It is characterized by slowly progressive disease that leads to end-stage renal disease (ESRD) occurring at any age between 20 and 70 years. There are no other systemic features in addition to chronic kidney disease, although some develop gout in adulthood. In some cases, the genetic cause of ADTKD in a family is not known. People with ADTKD of unknown cause typically do not have features in addition to chronic kidney disease (as is the case for MKD). Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a family history of "kidney disease" (if not a family history of ADTKD specifically) or some of the other symptoms. The diagnosis of ADTKD may be suspected based on family history, symptoms, and laboratory tests, and it can be confirmed by genetic testing. Treatment for kidney disease in people with ADTKD generally follows standard guidelines for chronic kidney disease and may involve kidney transplantation, which cures the disease. The disease does not recur in the transplanted kidney. Other treatments depend on the symptoms in each person. For example, gout may be treated with allopurinol. High meat and seafood intake could worsen gout. Treatment of anemia depends on whether it is causing symptoms. Those with ADTKD-REN are advised to avoid a low-sodium diet and non-steroidal anti-inflammatory drugs.

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease, also known as autosomal dominant medullary cystic kidney disease, is related to kidney disease and cystic kidney disease. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways is Renin-angiotensin system. Affiliated tissues include kidney, testes and liver.

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease

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



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease

Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study: The Effect of Ergocalciferol on Plasma Mucin-1 Levels Not yet recruiting NCT03747523 Early Phase 1 Ergocalciferol

Search NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease

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:

41
Kidney, Testes, Liver, Ovary

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease:

(show all 19)
# Title Authors Year
1
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. ( 29784615 )
2018
2
Noninvasive Immunohistochemical Diagnosis and Novel <i>MUC1</i> Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. ( 29967284 )
2018
3
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review. ( 29569962 )
2018
4
Identification of a novel UMOD mutation (c.163G&amp;gt;A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. ( 29513881 )
2018
5
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. ( 30049680 )
2018
6
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. ( 30097458 )
2018
7
Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis. ( 30155326 )
2018
8
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. ( 30376835 )
2018
9
A review on autosomal dominant tubulointerstitial kidney disease. ( 28648202 )
2017
10
Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD). ( 28220896 )
2017
11
Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1I^ drives autosomal dominant tubulointerstitial kidney disease. ( 28577853 )
2017
12
Autosomal Dominant Tubulointerstitial Kidney Disease. ( 28284384 )
2017
13
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. ( 29217307 )
2017
14
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. ( 26810206 )
2016
15
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. ( 26943180 )
2016
16
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. ( 25738250 )
2015
17
Autosomal dominant tubulointerstitial kidney disease: of names and genes. ( 25168494 )
2014
18
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. ( 12832729 )
2003
19
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. ( 11576336 )
2001

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.

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease

Pathways related to Autosomal Dominant Tubulointerstitial Kidney Disease according to KEGG:

37
# Name Kegg Source Accession
1 Renin-angiotensin system hsa04614

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease

Cellular components related to Autosomal Dominant Tubulointerstitial Kidney Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.16 MUC1 UMOD
2 basolateral plasma membrane GO:0016323 8.96 KCNJ16 UMOD
3 Golgi lumen GO:0005796 8.62 MUC1 UMOD

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease

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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