MCKD2
MCID: UMD001
MIFTS: 34

Umod-Associated Kidney Disease (MCKD2) malady

Nephrological diseases, Metabolic diseases, Ear diseases, Genetic diseases categories

Summaries for Umod-Associated Kidney Disease

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Sources:
42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 uromodulin-associated kidney disease and hyperuricemia. An important gene associated with Umod-Associated Kidney Disease is UMOD (uromodulin). Affiliated tissues include kidney.

Description from OMIM:46 162000

GeneReviews summary for mckd2

Aliases & Classifications for Umod-Associated Kidney Disease

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19GeneReviews, 20GeneTests, 22GTR, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 46OMIM
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Classifications:



Characteristics (Orphanet epidemiological data):

48
umod-associated familial juvenile hyperuricemic nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

umod-associated kidney disease 19 20 22
medullary cystic kidney disease 2 19 42 20 22
familial juvenile hyperuricemic nephropathy 1 19 20
umod-associated familial juvenile hyperuricemic nephropathy 48
progressive hereditary glomerulonephritis without deafness 60
medullary cystic kidney disease 2, autosomal dominant 42
familial juvenile hyperuricemic nephropathy type 1 48
hyperuricemic nephropathy, familial juvenile 1 46
medullary cystic kidney disease type 2 60
familial juvenile gouty nephropathy 48
familial nephropathy with gout 48
uromodulin storage disease 19
familial juvenile gout 60
umod-associated fjhn 48
fjhn type 1 48
admckd2 42
mckd2 42


External Ids:

OMIM46 162000

Related Diseases for Umod-Associated Kidney Disease

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Umod-Associated Kidney Disease:



Diseases related to umod-associated kidney disease

Clinical Features for Umod-Associated Kidney Disease

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46OMIM
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Clinical features from OMIM:

162000

Clinical synopsis from OMIM:

162000

Drugs & Therapeutics for Umod-Associated Kidney Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Umod-Associated Kidney Disease

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Genetic Tests for Umod-Associated Kidney Disease

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20GeneTests, 22GTR
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Genetic tests related to Umod-Associated Kidney Disease:

id Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease20 22 UMOD
2 Medullary Cystic Kidney Disease 220 22
3 Familial Juvenile Hyperuricemic Nephropathy Type 120 UMOD

Anatomical Context for Umod-Associated Kidney Disease

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32MalaCards
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MalaCards organs/tissues related to Umod-Associated Kidney Disease:

32
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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Genetic Variations for Umod-Associated Kidney Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Umod-Associated Kidney Disease:

62
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

Expression for genes affiliated with Umod-Associated Kidney Disease

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Sources:
1BioGPS, 15Gene 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
  • Lysates
  • Antibodies

Sources for Umod-Associated Kidney Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet