MCKD2
MCID: UMD001
MIFTS: 31

Umod-Associated Kidney Disease (MCKD2) malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories
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Summaries for Umod-Associated Kidney Disease

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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 based summary: 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, and has symptoms including 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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Umod-Associated Kidney Disease, Aliases & Descriptions:

Name: Umod-Associated Kidney Disease 19 20 22
Medullary Cystic Kidney Disease 2 19 42 20 22
Familial Juvenile Hyperuricemic Nephropathy 1 19 20
Familial Juvenile Gouty Nephropathy 48 62
Uromodulin Storage Disease 19 62
Umod-Associated Familial Juvenile Hyperuricemic Nephropathy 48
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 62
Familial Nephropathy with Gout 48
Familial Juvenile Gout 62
Umod-Associated Fjhn 48
Fjhn Type 1 48
Admckd2 42
Mckd2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial juvenile gouty nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

OMIM46 162000

Related Diseases for Umod-Associated Kidney Disease

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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 isosthenuria29.9UMOD, MCKD2
3cystic kidney10.3
4kidney disease10.3
5primary hyperoxaluria10.1UMOD
6medullary cystic kidney disease type 110.0

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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Symptoms by clinical synopsis from OMIM:

162000

Clinical features from OMIM:

162000

HPO human phenotypes related to Umod-Associated Kidney Disease:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 tubular atrophy HP:0000092
4 nephropathy HP:0000112
5 gout HP:0001997
6 juvenile onset HP:0003621
7 progressive disorder HP:0003676

Drugs & Therapeutics for Umod-Associated Kidney Disease

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Drug clinical trials:

Search ClinicalTrials for Umod-Associated Kidney Disease

Search NIH Clinical Center for Umod-Associated Kidney Disease

Genetic Tests for Umod-Associated Kidney Disease

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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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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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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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UniProtKB/Swiss-Prot genetic disease variations for Umod-Associated Kidney Disease:

64 (show all 13)
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.Cys248TrpVAR_025958
8UMODp.Cys255TyrVAR_025959
9UMODp.Cys300GlyVAR_025960
10UMODp.Val109GluVAR_071398
11UMODp.Trp230ArgVAR_071399
12UMODp.Pro236GlnVAR_071400
13UMODp.Ala461GluVAR_071401

Clinvar genetic disease variations for Umod-Associated Kidney Disease:

6 (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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Expression patterns in normal tissues for genes affiliated with Umod-Associated Kidney Disease

Search GEO for disease gene expression data for Umod-Associated Kidney Disease.

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet