MCID: MDL021
MIFTS: 22

Medullary Cystic Kidney Disease 2

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Medullary Cystic Kidney Disease 2

MalaCards integrated aliases for Medullary Cystic Kidney Disease 2:

Name: Medullary Cystic Kidney Disease 2 53 71 28 13
Familial Juvenile Gout 69 28
Admckd2 53 71
Mckd2 53 71
Medullary Cystic Kidney Disease 2, Autosomal Dominant; Admckd2 53
Medullary Cystic Kidney Disease 2, Autosomal Dominant 53
Autosomal Dominant Medullary Cystic Kidney Disease 2 71
Medullary Cystic Kidney Disease Type 2 69

Classifications:



External Ids:

OMIM 53 603860
MedGen 39 C1859040
MeSH 41 D052177
SNOMED-CT via HPO 65 204958008

Summaries for Medullary Cystic Kidney Disease 2

OMIM : 53 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 familial juvenile gout, is related to autosomal dominant tubulointerstitial kidney disease, umod-related and hyperuricemic nephropathy, familial juvenile, 1, 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 2 family:

Medullary Cystic Kidney Disease 1

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease, umod-related 11.5
2 hyperuricemic nephropathy, familial juvenile, 1 11.1
3 autosomal dominant tubulointerstitial kidney disease 11.1
4 familial juvenile hyperuricaemic nephropathy 9.9
5 cystic kidney disease 9.9
6 kidney disease 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 multiple small medullary renal cysts 31 HP:0008659

Drugs & Therapeutics for Medullary Cystic Kidney Disease 2

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Medullary Cystic Kidney Disease 2 28 UMOD
2 Familial Juvenile Gout 28 UMOD

Anatomical Context for Medullary Cystic Kidney Disease 2

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

38
Kidney

Publications for Medullary Cystic Kidney Disease 2

Articles related to Medullary Cystic Kidney Disease 2:

# 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
# 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 rs886043751
4 UMOD p.Cys120Gly VAR_077514

ClinVar genetic disease variations for Medullary Cystic Kidney Disease 2:

6
# 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
4 UMOD NM_003361.3(UMOD): c.947A> C (p.Gln316Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 20359571: 20359571

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....