ADTKD2
MCID: TBL032
MIFTS: 33

Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 (ADTKD2)

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

Aliases & Classifications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

MalaCards integrated aliases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

Name: Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 57
Medullary Cystic Kidney Disease 1 57 73 29 6
Mckd1 57 58 73
Admckd1 57 73
Mckd 57 73
Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease 58
Muc1-Related Autosomal Dominant Medullary Cystic Kidney Disease 58
Medullary Cystic Kidney Disease, Autosomal Dominant; Admckd1 57
Medullary Cystic Kidney Disease 1, Autosomal Dominant 13
Autosomal Dominant Medullary Cystic Kidney Disease 1 73
Medullary Cystic Kidney Disease, Autosomal Dominant 57
Kidney Disease, Cystic, Medullary, Type 1 39
Medullary Cystic Kidney Disease 1; Mckd1 57
Medullary Cystic Kidney Disease Type 1 58
Medullary Cystic Kidney Disease Type I 17
Polycystic Kidneys, Medullary Type 57
Medullary Polycystic Kidneys 73
Muci-Related Adtkd 58
Adtkd-Muc1 58
Adtkd2 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
adult onset (range 34 to 66 years)

Inheritance:
autosomal dominant


HPO:

31
tubulointerstitial kidney disease, autosomal dominant, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare renal diseases


Summaries for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

OMIM® : 57 Autosomal dominant tubulointerstitial kidney disease-2 (ADTKD2) is characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade. Renal biopsy shows tubulointerstitial nephropathy, sometimes with the formation of renal cysts at the corticomedullary junction, although cysts are not pathognomonic for the disease and are not an essential criterion for the diagnosis. More variable features may include anemia, hypertension, hyperuricemia, and gout; urinary sediment is bland. The features are nonspecific and there is significant inter- and intrafamilial variability, as well as incomplete penetrance, which may hinder the clinical diagnosis (summary by Stavrou et al., 2002, Wolf et al., 2004; review by Devuyst et al., 2019). For a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 (162000). (174000) (Updated 05-Mar-2021)

MalaCards based summary : Tubulointerstitial Kidney Disease, Autosomal Dominant, 2, also known as medullary cystic kidney disease 1, is related to autosomal dominant tubulointerstitial kidney disease, muc1-related and autosomal dominant tubulointerstitial kidney disease. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 is MUC1 (Mucin 1, Cell Surface Associated). The drugs Ergocalciferol and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are hypotension and hypertension

UniProtKB/Swiss-Prot : 73 Medullary cystic kidney disease 1: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.

Related Diseases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Graphical network of the top 20 diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:



Diseases related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Symptoms & Phenotypes for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Human phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypotension 31 HP:0002615
2 hypertension 31 HP:0000822
3 anemia 31 HP:0001903
4 hyperuricemia 31 HP:0002149
5 cerebral cortical atrophy 31 HP:0002120
6 renal hypoplasia 31 HP:0000089
7 gout 31 HP:0001997
8 tubulointerstitial nephritis 31 HP:0001970
9 stage 5 chronic kidney disease 31 HP:0003774
10 renal salt wasting 31 HP:0000127
11 elevated serum creatinine 31 HP:0003259
12 renal tubular atrophy 31 HP:0000092
13 tubulointerstitial fibrosis 31 HP:0005576
14 decreased glomerular filtration rate 31 HP:0012213
15 glomerular sclerosis 31 HP:0000096
16 renal corticomedullary cysts 31 HP:0000108
17 renal cortical atrophy 31 HP:0002048
18 impaired renal uric acid clearance 31 HP:0004732
19 tubular basement membrane disintegration 31 HP:0005583

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
hypertension
hypotension (may occur late in disease due to salt wasting)

Laboratory Abnormalities:
hyperuricemia
increased serum creatinine
decreased glomerular filtration rate (gfr)

Genitourinary Kidneys:
tubulointerstitial nephritis
glomerulosclerosis
tubulointerstitial fibrosis
impaired renal uric acid clearance
small kidneys
more
Hematology:
anemia

Metabolic Features:
gout

Clinical features from OMIM®:

174000 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Drugs for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genetic Tests for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Genetic tests related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

# Genetic test Affiliating Genes
1 Medullary Cystic Kidney Disease 1 29 MUC1

Anatomical Context for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

MalaCards organs/tissues related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

40
Kidney

Publications for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Articles related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

(show all 41)
# Title Authors PMID Year
1
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 61 6 57
23396133 2013
2
Medullary cystic kidney disease type 1 in a large Native-American kindred. 61 6 57
15384011 2004
3
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. 61 57
16738948 2006
4
Telomeric refinement of the MCKD1 locus on chromosome 1q21. 61 57
15253709 2004
5
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. 61 57
12911527 2003
6
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. 57 61
12234310 2002
7
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. 61 57
11401443 2001
8
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. 57
32450155 2020
9
Autosomal dominant tubulointerstitial kidney disease. 57
31488840 2019
10
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. 57
29784615 2018
11
Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. 57
16199849 2005
12
Clinical and genetic characterization of an autosomal dominant nephropathy. 57
11241491 2001
13
Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. 57
10196704 1999
14
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. 57
9536096 1998
15
Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. 57
9605289 1998
16
Juvenile nephronophthisis and medullary cystic disease. 57
881899 1977
17
Medullary cystic disease vs nephronophthisis. A valid distinction? 57
1173153 1975
18
Cystic disease of the renal medulla in the elderly. 57
4406617 1974
19
Progressive hereditary nephropathy. A variant of medullary cystic disease? 57
4682983 1973
20
Medullary sponge kidney: review of the literature and presentation of 33 cases. 57
4684982 1973
21
Red and blonde hair in renal medullary cystic disease. 57
5035984 1972
22
Evolution of clinical signs in adult-onset cystic disease of the renal medulla. 57
5539277 1971
23
Medullary sponge kidney: its occurrence in a father and daughter. 57
6020209 1967
24
Hereditary occurrence of cystic disease of the renal medulla. 57
5909742 1966
25
Sponge kidney: a review of the litrature and a report of five cases. 57
13791481 1960
26
Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells. 61
29436780 2018
27
Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease. 61
29052568 2017
28
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. 61
27157321 2016
29
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 61
26943180 2016
30
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. 61
25818408 2015
31
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. 61
23475468 2013
32
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. 61
16164624 2005
33
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 61
15086896 2004
34
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. 61
13679497 2003
35
Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again. 61
17657103 2003
36
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. 61
12832729 2003
37
Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1. 61
11851379 2001
38
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. 61
11576337 2001
39
New insights: nephronophthisis-medullary cystic kidney disease. 61
11261687 2001
40
Molecular genetics of nephronophthisis and medullary cystic kidney disease. 61
10966501 2000
41
Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. 61
10831633 2000

Variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

ClinVar genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUC1 NC_000001.10:g.(155160963_155162030)insC Insertion Pathogenic 55830
2 MUC1 NM_001044390.3(MUC1):c.266-194dup Duplication Pathogenic 974433 1:155160242-155160243 1:155187766-155187767

Expression for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Search GEO for disease gene expression data for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2.

Pathways for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

GO Terms for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Sources for Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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