MCKD2
MCID: MDL021
MIFTS: 23

Medullary Cystic Kidney Disease 2 (MCKD2)

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 58 76 30 13 6
Admckd2 58 76
Mckd2 58 76
Medullary Cystic Kidney Disease 2, Autosomal Dominant; Admckd2 58
Medullary Cystic Kidney Disease 2, Autosomal Dominant 58
Autosomal Dominant Medullary Cystic Kidney Disease 2 76
Medullary Cystic Kidney Disease Type 2 74
Familial Juvenile Gout 74

Characteristics:

HPO:

33
medullary cystic kidney disease 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Medullary Cystic Kidney Disease 2

OMIM : 58 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 cystic kidney disease and autosomal dominant tubulointerstitial kidney disease, umod-related. An important gene associated with Medullary Cystic Kidney Disease 2 is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotypes are multiple renal cysts and gout

UniProtKB/Swiss-Prot : 76 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 cystic kidney disease 29.3 MCKD2 UMOD
2 autosomal dominant tubulointerstitial kidney disease, umod-related 11.5
3 autosomal dominant tubulointerstitial kidney disease due to umod mutations 11.5
4 autosomal dominant tubulointerstitial kidney disease 11.2
5 hyperuricemic nephropathy, familial juvenile, 1 10.0
6 kidney disease 10.0

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

Human phenotypes related to Medullary Cystic Kidney Disease 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 multiple renal cysts 33 very rare (1%) HP:0005562
2 gout 33 very rare (1%) HP:0001997
3 tubulointerstitial nephritis 33 very rare (1%) HP:0001970
4 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774
5 hyperuricemia 33 HP:0002149
6 enuresis 33 HP:0000805
7 tubular atrophy 33 HP:0000092
8 multiple small medullary renal cysts 33 HP:0008659
9 renal corticomedullary cysts 33 HP:0000108

Clinical features from OMIM:

603860

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 30 UMOD

Anatomical Context for Medullary Cystic Kidney Disease 2

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

42
Kidney

Publications for Medullary Cystic Kidney Disease 2

Articles related to Medullary Cystic Kidney Disease 2:

# Title Authors Year
1
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. ( 17245395 )
2007
2
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ( 12471200 )
2002
3
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. ( 11576337 )
2001

Variations for Medullary Cystic Kidney Disease 2

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

76
# 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 rs1555487318 GRCh37 Chromosome 16, 20359571: 20359571
12 UMOD NM_003361.3(UMOD): c.947A> C (p.Gln316Pro) single nucleotide variant Pathogenic rs1555487318 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

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10 dbSNP
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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