MCID: MDL021
MIFTS: 24

Medullary Cystic Kidney Disease 2

Categories: Genetic diseases

Aliases & Classifications for Medullary Cystic Kidney Disease 2

MalaCards integrated aliases for Medullary Cystic Kidney Disease 2:

Name: Medullary Cystic Kidney Disease 2 54 24 71 29 13
Autosomal Dominant Medullary Cystic Kidney Disease 2 24 71
Admckd2 24 71
Mckd2 24 71
Medullary Cystic Kidney Disease Type 2 69
Familial Juvenile Gout 69

Classifications:



External Ids:

OMIM 54 603860
MedGen 40 C1859040
MeSH 42 D052177
SNOMED-CT via HPO 65 204958008

Summaries for Medullary Cystic Kidney Disease 2

OMIM : 54
Medullary cystic kidney disease (MCKD) is an autosomal dominant 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 (Wolf et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (174000). (603860)

MalaCards based summary : Medullary Cystic Kidney Disease 2, also known as autosomal dominant medullary cystic kidney disease 2, is related to autosomal dominant medullary cystic kidney disease with hyperuricemia and autosomal dominant tubulointerstitial kidney disease, umod-related, and has symptoms including multiple small medullary renal cysts An important gene associated with Medullary Cystic Kidney Disease 2 is UMOD (Uromodulin). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 71 Medullary cystic kidney disease 2: 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 Medullary Cystic Kidney Disease 2

Diseases in the Medullary Cystic Kidney Disease 1 family:

Medullary Cystic Kidney Disease 2

Diseases related to Medullary Cystic Kidney Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant medullary cystic kidney disease with hyperuricemia 11.3
2 autosomal dominant tubulointerstitial kidney disease, umod-related 11.2
3 hyperuricemic nephropathy, familial juvenile 1 10.9
4 cystic kidney disease 9.8
5 kidney disease 9.8
6 familial juvenile hyperuricaemic nephropathy 9.8
7 glomerulocystic kidney disease with hyperuricemia and isosthenuria 9.5 MCKD2 UMOD

Graphical network of the top 20 diseases related to Medullary Cystic Kidney Disease 2:



Diseases related to Medullary Cystic Kidney Disease 2

Symptoms & Phenotypes for Medullary Cystic Kidney Disease 2

Clinical features from OMIM:

603860

Human phenotypes related to Medullary Cystic Kidney Disease 2:

32
id Description HPO Frequency HPO Source Accession
1 multiple small medullary renal cysts 32 HP:0008659

Drugs & Therapeutics for Medullary Cystic Kidney Disease 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957
2 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Medullary Cystic Kidney Disease 2

Genetic Tests for Medullary Cystic Kidney Disease 2

Genetic tests related to Medullary Cystic Kidney Disease 2:

id Genetic test Affiliating Genes
1 Medullary Cystic Kidney Disease 2 29 24

Anatomical Context for Medullary Cystic Kidney Disease 2

MalaCards organs/tissues related to Medullary Cystic Kidney Disease 2:

39
Kidney

Publications for Medullary Cystic Kidney Disease 2

Articles related to Medullary Cystic Kidney Disease 2:

id Title Authors Year
1
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ( 12471200 )
2002

Variations for Medullary Cystic Kidney Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Medullary Cystic Kidney Disease 2:

71
id Symbol AA change Variation ID SNP ID
1 UMOD p.Gly103Cys VAR_017666 rs28934584
2 UMOD p.Thr225Lys VAR_025957
3 UMOD p.Cys248Trp VAR_025958
4 UMOD p.Cys120Gly VAR_077514

ClinVar genetic disease variations for Medullary Cystic Kidney Disease 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.307G> T (p.Gly103Cys) single nucleotide variant Pathogenic rs28934584 GRCh37 Chromosome 16, 20360316: 20360316
2 UMOD NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) indel Pathogenic rs878855325 GRCh38 Chromosome 16, 20349012: 20349023
3 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh37 Chromosome 16, 20359879: 20359879

Expression for Medullary Cystic Kidney Disease 2

Search GEO for disease gene expression data for Medullary Cystic Kidney Disease 2.

Pathways for Medullary Cystic Kidney Disease 2

GO Terms for Medullary Cystic Kidney Disease 2

Sources for Medullary Cystic Kidney Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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