MCID: ATS382
MIFTS: 31

Autosomal Dominant Tubulointerstitial Kidney Disease

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 54 60 38
Autosomal Dominant Medullary Cystic Kidney Disease 54 60
Adtkd 54 60
Mckd 54 60
Nephronophthisis - Medullary Cystic Disease 74
Medullary Cystic Kidney Disease 1 74

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

KEGG 38 H00541
ICD10 via Orphanet 35 Q61.5
Orphanet 60 ORPHA34149

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease

NIH Rare Diseases : 54 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. The drugs Ergocalciferol and Calcium have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone.

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 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 kidney disease 30.3 HNF1B MUC1 UMOD
2 cystic kidney disease 30.2 HNF1B MUC1 UMOD
3 hyperuricemic nephropathy, familial juvenile, 1 29.4 HNF1B MUC1 UMOD
4 autosomal dominant tubulointerstitial kidney disease due to umod mutations 12.7
5 autosomal dominant tubulointerstitial kidney disease due to muc1 mutations 12.7
6 autosomal dominant tubulointerstitial kidney disease due to ren mutations 12.7
7 autosomal dominant tubulointerstitial kidney disease, muc1-related 12.4
8 autosomal dominant tubulointerstitial kidney disease, ren-related 12.4
9 autosomal dominant tubulointerstitial kidney disease, umod-related 12.4
10 medullary cystic kidney disease 1 11.4
11 hyperuricemic nephropathy, familial juvenile, 2 11.4
12 nephronophthisis 11.2
13 medullary cystic kidney disease 2 11.1
14 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.1
15 bipolar disorder 10.1
16 focal segmental glomerulosclerosis 1 10.1
17 renal fibrosis 10.1
18 cakut 9.8 HNF1B UMOD
19 malignant ovarian surface epithelial-stromal neoplasm 9.7 HNF1B MUC1
20 ovary epithelial cancer 9.7 HNF1B MUC1
21 renal cell carcinoma, nonpapillary 9.5 HNF1B MUC1
22 polycystic liver disease 1 with or without kidney cysts 9.5 HNF1B MUC1 UMOD

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

Drugs for Autosomal Dominant Tubulointerstitial Kidney Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Early Phase 1 50-14-6 5280793
2
Calcium Approved, Nutraceutical Early Phase 1 7440-70-2 271
3
Vitamin D Approved, Nutraceutical, Vet_approved Early Phase 1 1406-16-2
4
Vitamin D3 Approved, Nutraceutical Early Phase 1 67-97-0 5280795 6221
5 Vitamins Early Phase 1
6 Bone Density Conservation Agents Early Phase 1
7 Hormones Early Phase 1
8 Calcium, Dietary Early Phase 1
9 Micronutrients Early Phase 1
10 Nutrients Early Phase 1
11 Trace Elements Early Phase 1
12 Vitamin D2 Early Phase 1
13 Calciferol Early Phase 1
14 Ergocalciferols Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study: The Effect of Ergocalciferol on Plasma Mucin-1 Levels 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:

42
Kidney, Testes, Bone, Liver, Ovary

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease:

(show all 34)
# Title Authors Year
1
Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case. ( 30976393 )
2019
2
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review. ( 31068150 )
2019
3
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. ( 29217307 )
2018
4
Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. ( 29513881 )
2018
5
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review. ( 29569962 )
2018
6
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. ( 29784615 )
2018
7
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. ( 29967284 )
2018
8
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. ( 30049680 )
2018
9
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. ( 30097458 )
2018
10
Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis. ( 30155326 )
2018
11
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. ( 30376835 )
2018
12
Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD). ( 28220896 )
2017
13
Autosomal Dominant Tubulointerstitial Kidney Disease. ( 28284384 )
2017
14
Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease. ( 28577853 )
2017
15
A review on autosomal dominant tubulointerstitial kidney disease. ( 28648202 )
2017
16
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. ( 26810206 )
2016
17
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
18
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. ( 25738250 )
2015
19
Autosomal dominant tubulointerstitial kidney disease: of names and genes. ( 25168494 )
2014
20
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. ( 23475468 )
2013
21
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. ( 15983957 )
2005
22
Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. ( 16199849 )
2005
23
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. ( 12832729 )
2003
24
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. ( 12839032 )
2003
25
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. ( 13679497 )
2003
26
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. ( 12234310 )
2002
27
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. ( 11401443 )
2001
28
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. ( 11576336 )
2001
29
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? ( 11675411 )
2001
30
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. ( 11730273 )
2001
31
Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. ( 10831633 )
2000
32
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. ( 9536096 )
1998
33
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity. ( 9719147 )
1998
34
Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. ( 9198059 )
1997

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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