MCID: MDL021
MIFTS: 20

Medullary Cystic Kidney Disease 2

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Medullary Cystic Kidney Disease 2

MalaCards integrated aliases for Medullary Cystic Kidney Disease 2:

Name: Medullary Cystic Kidney Disease 2 57 75 29 13 6
Admckd2 57 75
Mckd2 57 75
Medullary Cystic Kidney Disease 2, Autosomal Dominant; Admckd2 57
Medullary Cystic Kidney Disease 2, Autosomal Dominant 57
Autosomal Dominant Medullary Cystic Kidney Disease 2 75
Medullary Cystic Kidney Disease Type 2 73
Familial Juvenile Gout 73

Classifications:



External Ids:

OMIM 57 603860
MedGen 42 C1859040
MeSH 44 D052177
SNOMED-CT via HPO 69 204958008

Summaries for Medullary Cystic Kidney Disease 2

OMIM : 57 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 admckd2, is related to autosomal dominant tubulointerstitial kidney disease, umod-related and cystic kidney disease. An important gene associated with Medullary Cystic Kidney Disease 2 is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotype is multiple small medullary renal cysts.

UniProtKB/Swiss-Prot : 75 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:

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

Symptoms & Phenotypes for Medullary Cystic Kidney Disease 2

Clinical features from OMIM:

603860

Human phenotypes related to Medullary Cystic Kidney Disease 2:

32
# Description HPO Frequency HPO Source Accession
1 multiple small medullary renal cysts 32 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 29 UMOD

Anatomical Context for Medullary Cystic Kidney Disease 2

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

41
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:

75
# 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
(show all 12)
# 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.307G> T (p.Gly103Cys) single nucleotide variant Pathogenic rs28934584 GRCh38 Chromosome 16, 20348994: 20348994
3 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh37 Chromosome 16, 20359783: 20359783
4 UMOD NM_003361.3(UMOD): c.840C> T (p.Pro280=) single nucleotide variant Benign rs78691203 GRCh38 Chromosome 16, 20348461: 20348461
5 UMOD NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) indel Pathogenic rs878855325 GRCh38 Chromosome 16, 20349012: 20349023
6 UMOD NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) indel Pathogenic rs878855325 GRCh37 Chromosome 16, 20360334: 20360345
7 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh37 Chromosome 16, 20359879: 20359879
8 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh38 Chromosome 16, 20348557: 20348557
9 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh37 Chromosome 16, 20352618: 20352618
10 UMOD NM_003361.3(UMOD): c.1372G> T (p.Val458Leu) single nucleotide variant Benign rs55772253 GRCh38 Chromosome 16, 20341296: 20341296
11 UMOD NM_003361.3(UMOD): c.947A> C (p.Gln316Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 20359571: 20359571
12 UMOD NM_003361.3(UMOD): c.947A> C (p.Gln316Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 20348249: 20348249

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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