MCKD
MCID: ATS382
MIFTS: 35

Autosomal Dominant Tubulointerstitial Kidney Disease (MCKD)

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:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease 20 58 36 6
Autosomal Dominant Medullary Cystic Kidney Disease 20 58
Adtkd 20 58
Mckd 20 58
Nephronophthisis - Medullary Cystic Disease 70
Medullary Cystic Kidney Disease 1 70

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

KEGG 36 H00541
ICD10 via Orphanet 33 Q61.5
Orphanet 58 ORPHA34149
UMLS 70 C0431716 C1868139

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease

GARD : 20 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 autosomal dominant tubulointerstitial kidney disease - ren and tubulointerstitial kidney disease, autosomal dominant, 1. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease is UMOD (Uromodulin), and among its related pathways/superpathways is Renin-angiotensin system. The drugs Vitamin D3 and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver.

KEGG : 36 Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease

Diseases in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease - ren 32.1 UMOD REN
2 tubulointerstitial kidney disease, autosomal dominant, 1 31.4 UMOD REN MUC1 HNF1B
3 nephronophthisis 31.2 UMOD MUC1 HNF1B
4 interstitial nephritis 30.5 UMOD REN
5 end stage renal disease 30.4 UMOD REN
6 hyperuricemia 30.3 UMOD REN HNF1B
7 kidney disease 30.1 UMOD REN MUC1 HNF1B
8 cystic kidney disease 30.1 UMOD MUC1 HNF1B
9 acute cystitis 30.1 UMOD REN
10 chronic kidney disease 30.0 UMOD REN HNF1B
11 renal dysplasia 29.8 REN HNF1B
12 polycystic kidney disease 29.5 UMOD REN HNF1B
13 autosomal dominant tubulointerstitial kidney disease, umod-related 11.9
14 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.9
15 autosomal dominant tubulointerstitial kidney disease due to ren mutations 11.8
16 tubulointerstitial kidney disease, autosomal dominant, 2 11.6
17 tubulointerstitial kidney disease, autosomal dominant, 4 11.6
18 hnf1b-related autosomal dominant tubulointerstitial kidney disease 11.4
19 renal cysts and diabetes syndrome 11.3
20 polycystic kidney disease 6 with or without polycystic liver disease 11.3
21 hyperuricemic nephropathy, familial juvenile, 3 11.2
22 tubulointerstitial kidney disease, autosomal dominant, 5 11.2
23 gout 10.7
24 proteinuria, chronic benign 10.5
25 juvenile nephronophthisis 10.5
26 renal fibrosis 10.4
27 nephronophthisis 1 10.3
28 maturity-onset diabetes of the young 10.3
29 autosomal dominant polycystic kidney disease 10.3
30 major affective disorder 1 10.2
31 nephronophthisis 2 10.2
32 nephronophthisis 3 10.2
33 nephronophthisis 4 10.2
34 major affective disorder 8 10.2
35 major affective disorder 9 10.2
36 bipolar i disorder 10.2
37 endogenous depression 10.2
38 bipolar disorder 10.2
39 retinal degeneration 10.2
40 fibrosis of extraocular muscles, congenital, 1 10.1
41 kbg syndrome 10.1
42 nephrolithiasis, calcium oxalate 10.1
43 alacrima, achalasia, and mental retardation syndrome 10.1
44 hydronephrosis 10.1
45 nephrotic syndrome 10.1
46 focal segmental glomerulosclerosis 10.1
47 lipid metabolism disorder 10.1
48 hyperglycemia 10.1
49 hypokalemia 10.1
50 nephrolithiasis 10.1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Effect of Ergocalciferol on Plasma and Urinary Mucin-1 Levels in Healthy Individuals and Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations (ADTKD-MUC1) Completed 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:

40
Kidney, Liver

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 61 6
33532864 2021
2
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease. 61 6
32274456 2020
3
Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease. 61 6
29212948 2017
4
Uromodulin: from physiology to rare and complex kidney disorders. 6 61
28781372 2017
5
Medullary cystic kidney disease type 1 in a large Native-American kindred. 6 61
15384011 2004
6
A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress. 6
32926855 2020
7
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 6
23396133 2013
8
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. 61
33048330 2021
9
Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation. 61
33616882 2021
10
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia. 61
33129895 2021
11
Uromodulin: Roles in Health and Disease. 61
33566673 2021
12
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort. 61
33574344 2021
13
Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific? 61
33397327 2021
14
Pre-pregnancy obesity and risk of congenital abnormalities of the kidney and urinary tract (CAKUT)-systematic review, meta-analysis and ecological study. 61
32596798 2021
15
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. 61
33305128 2020
16
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. 61
32750457 2020
17
The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations. 61
33306044 2020
18
Clinical and genetic spectra of kidney disease caused by REN mutations. 61
33276865 2020
19
Hypomagnesemia is underestimated in children with HNF1B mutations. 61
32388583 2020
20
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. 61
32359821 2020
21
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. 61
32450155 2020
22
Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing. 61
32828237 2020
23
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. 61
32954071 2020
24
A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report. 61
32847529 2020
25
[Patients with a kidney disease can benefit from a specific genetic diagnose]. 61
32829746 2020
26
A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report. 61
32756155 2020
27
Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease. 61
32068086 2020
28
Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary? 61
32081673 2020
29
SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family. 61
32451462 2020
30
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. 61
31958169 2020
31
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia. 61
31722346 2020
32
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases. 61
31337885 2020
33
Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
. 61
31587753 2019
34
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease. 61
31586593 2019
35
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. 61
31509055 2019
36
A novel UMOD gene mutation associated with chronic kidney failure at a young age. 61
29424336 2019
37
Autosomal dominant tubulointerstitial kidney disease. 61
31488848 2019
38
Autosomal dominant tubulointerstitial kidney disease. 61
31488840 2019
39
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology. 61
30099615 2019
40
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein. 61
31406136 2019
41
Particle swarm optimization algorithm to solve the deconvolution problem for rolling element bearing fault diagnosis. 61
30732991 2019
42
Multi-objective iterative optimization algorithm based optimal wavelet filter selection for multi-fault diagnosis of rolling element bearings. 61
30578001 2019
43
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review. 61
31068150 2019
44
Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case. 61
30976393 2019
45
Diagnosis and Long-term Management of Uromodulin Kidney Disease. 61
31157132 2019
46
Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review. 61
31422399 2019
47
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review. 61
29569962 2018
48
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. 61
30376835 2018
49
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. 61
30097458 2018
50
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. 61
29784615 2018

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease

ClinVar genetic disease variations for Autosomal Dominant Tubulointerstitial Kidney Disease:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MUC1 NC_000001.10:g.(155160963_155162030)insC Insertion Pathogenic 55830 GRCh37:
GRCh38:
2 MUC1 NM_001044390.3(MUC1):c.266-194dup Duplication Pathogenic 974433 GRCh37: 1:155160242-155160243
GRCh38: 1:155187766-155187767
3 UMOD NM_003361.3(UMOD):c.651C>G (p.Cys217Trp) SNV Pathogenic 807520 rs1596561934 GRCh37: 16:20359972-20359972
GRCh38: 16:20348650-20348650
4 UMOD NM_001008389.3(UMOD):c.317G>A (p.Cys106Tyr) SNV Pathogenic 807521 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
5 HNF1B NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) SNV Pathogenic 12640 GRCh37: 17:36091805-36091805
GRCh38: 17:37731814-37731814
6 UMOD NM_001008389.3(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) Indel Pathogenic 242346 rs878855325 GRCh37: 16:20360334-20360345
GRCh38: 16:20349012-20349023
7 UMOD NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) SNV Likely pathogenic 94129 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
8 UMOD NM_001008389.3(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) Indel Likely pathogenic 242346 rs878855325 GRCh37: 16:20360334-20360345
GRCh38: 16:20349012-20349023
9 UMOD NM_003361.4(UMOD):c.272_274del (p.Ser91del) Deletion Likely pathogenic 988176 GRCh37: 16:20360349-20360351
GRCh38: 16:20349027-20349029
10 UMOD NM_003361.4(UMOD):c.552G>C (p.Trp184Cys) SNV Likely pathogenic 931170 GRCh37: 16:20360071-20360071
GRCh38: 16:20348749-20348749
11 UMOD NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) SNV Likely pathogenic 975071 GRCh37: 16:20360473-20360473
GRCh38: 16:20349151-20349151
12 UMOD NM_001008389.3(UMOD):c.317G>A (p.Cys106Tyr) SNV Likely pathogenic 807521 rs398123697 GRCh37: 16:20360306-20360306
GRCh38: 16:20348984-20348984
13 UMOD NM_003361.4(UMOD):c.411C>G (p.Cys137Trp) SNV Likely pathogenic 988208 GRCh37: 16:20360212-20360212
GRCh38: 16:20348890-20348890
14 SEC63 NM_007214.5(SEC63):c.1936-8G>T SNV Uncertain significance 988126 GRCh37: 6:108197874-108197874
GRCh38: 6:107876670-107876670
15 UMOD NM_003361.4(UMOD):c.698G>T (p.Gly233Val) SNV Uncertain significance 988175 GRCh37: 16:20359925-20359925
GRCh38: 16:20348603-20348603
16 MUC1 NM_001044393.3(MUC1):c.295C>T (p.Arg99Cys) SNV Uncertain significance 1031014 GRCh37: 1:155159991-155159991
GRCh38: 1:155187515-155187515
17 UMOD NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) SNV Uncertain significance 988177 GRCh37: 16:20359769-20359769
GRCh38: 16:20348447-20348447
18 UMOD NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) SNV Uncertain significance 988178 GRCh37: 16:20344658-20344658
GRCh38: 16:20333336-20333336
19 UMOD NM_003361.4(UMOD):c.768C>G (p.Cys256Trp) SNV Uncertain significance 988207 GRCh37: 16:20359855-20359855
GRCh38: 16:20348533-20348533
20 UMOD NM_003361.3(UMOD):c.840C>T (p.Pro280=) SNV Benign 196362 rs78691203 GRCh37: 16:20359783-20359783
GRCh38: 16:20348461-20348461
21 UMOD NM_003361.3(UMOD):c.1372G>T (p.Val458Leu) SNV Benign 290985 rs55772253 GRCh37: 16:20352618-20352618
GRCh38: 16:20341296-20341296

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:

36
# 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 Golgi lumen GO:0005796 8.62 UMOD MUC1

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

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.16 UMOD REN
2 response to drug GO:0042493 9.13 UMOD REN HNF1B
3 kidney development GO:0001822 8.8 UMOD REN HNF1B

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease

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
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