MCKD2
MCID: UMD001
MIFTS: 31

Umod-Associated Kidney Disease (MCKD2) malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases categories

Summaries for Umod-Associated Kidney Disease

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Medullary cystic kidney disease (mckd) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. end stage renal disease (esrd) eventually follows. there are 2 types of mckd, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. mckd 1 is caused by mutations in the mckd1 gene (which has not yet been identified) and mckd 2 is caused by mutations in the umod gene. the 2 types also differ by mckd 1 being associated with esrd at an average age of 62 years, while mckd 2 is associated with esrd around 32 years and is more likely to be associated with hyperuricemia and gout. treatment for mckd may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. last updated: 6/8/2011

MalaCards: Umod-Associated Kidney Disease, also known as medullary cystic kidney disease 2, is related to familial juvenile hyperuricaemic nephropathy and glomerulocystic kidney disease with hyperuricemia and isosthenuria. An important gene associated with Umod-Associated Kidney Disease is UMOD (uromodulin). Affiliated tissues include kidney.

Description from OMIM:48 162000

GeneReviews summary for mckd2

Aliases & Classifications for Umod-Associated Kidney Disease

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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

50
umod-associated familial juvenile hyperuricemic nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

umod-associated kidney disease 20 21 23
medullary cystic kidney disease 2 20 44 21 23
familial juvenile hyperuricemic nephropathy 1 20 21
umod-associated familial juvenile hyperuricemic nephropathy 50
progressive hereditary glomerulonephritis without deafness 63
medullary cystic kidney disease 2, autosomal dominant 44
familial juvenile hyperuricemic nephropathy type 1 50
hyperuricemic nephropathy, familial juvenile 1 48
medullary cystic kidney disease type 2 63
familial juvenile gouty nephropathy 50
familial nephropathy with gout 50
uromodulin storage disease 20
familial juvenile gout 63
umod-associated fjhn 50
fjhn type 1 50
admckd2 44
mckd2 44


External Ids:

OMIM48 162000

Related Diseases for Umod-Associated Kidney Disease

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18GeneCards, 19GeneDecks
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Diseases related to Umod-Associated Kidney Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial juvenile hyperuricaemic nephropathy30.6UMOD, MCKD2
2glomerulocystic kidney disease with hyperuricemia and isosthenuria30.2UMOD, MCKD2
3cystic kidney10.3
4kidney disease10.2
5medullary cystic kidney disease type 110.0
6primary hyperoxaluria10.0UMOD

Graphical network of diseases related to Umod-Associated Kidney Disease:



Diseases related to umod-associated kidney disease

Symptoms for Umod-Associated Kidney Disease

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48OMIM
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Symptoms by clinical synopsis from OMIM:

162000

Clinical features from OMIM:

162000

Drugs & Therapeutics for Umod-Associated Kidney Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Umod-Associated Kidney Disease

Drug clinical trials:

Search ClinicalTrials for Umod-Associated Kidney Disease

Search NIH Clinical Center for Umod-Associated Kidney Disease

Search CenterWatch for Umod-Associated Kidney Disease

Genetic Tests for Umod-Associated Kidney Disease

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21GeneTests, 23GTR
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Genetic tests related to Umod-Associated Kidney Disease:

id Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease21 23 UMOD
2 Medullary Cystic Kidney Disease 221 23
3 Familial Juvenile Hyperuricemic Nephropathy Type 121 UMOD

Anatomical Context for Umod-Associated Kidney Disease

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34MalaCards
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MalaCards organs/tissues related to Umod-Associated Kidney Disease:

34
Kidney

Animal Models for Umod-Associated Kidney Disease or affiliated genes

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Publications for Umod-Associated Kidney Disease

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53PubMed
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Articles related to Umod-Associated Kidney Disease:

idTitleAuthorsYear
1
UMOD-Associated Kidney Disease (20301530)
1993

Variations for Umod-Associated Kidney Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Umod-Associated Kidney Disease:

65
id Symbol AA change Variation ID SNP ID
1UMODp.Cys148TyrVAR_017667rs28934582
2UMODp.Cys217ArgVAR_017668rs28934583
3UMODp.Cys77TyrVAR_025950
4UMODp.Cys126ArgVAR_025952
5UMODp.Asn128SerVAR_025953
6UMODp.Cys223TyrVAR_025956
7UMODp.Cys255TyrVAR_025959
8UMODp.Cys300GlyVAR_025960

Clinvar genetic disease variations for Umod-Associated Kidney Disease:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenic
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.307G> T (p.Gly103Cys)single nucleotide variantPathogenicrs28934584GRCh37Chr 16, 20360316: 20360316
5UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
6UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
7UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
8UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
9UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
10UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
11UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
12UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)single nucleotide variantPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Umod-Associated Kidney Disease

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Umod-Associated Kidney Disease

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Pathways for genes affiliated with Umod-Associated Kidney Disease

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Compounds for genes affiliated with Umod-Associated Kidney Disease

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GO Terms for genes affiliated with Umod-Associated Kidney Disease

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Products for genes affiliated with Umod-Associated Kidney Disease

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Umod-Associated Kidney Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet