MCID: GLM024
MIFTS: 21

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Genetic diseases (common) category

Aliases & Classifications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Aliases & Descriptions for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

Name: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 49 11 24 67
 
Gckdhi 67


Classifications:



External Ids:

OMIM49 609886
MedGen34 C1835934
MeSH36 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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OMIM:49 Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal... (609886) more...

MalaCards based summary: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria, also known as gckdhi, is related to cystic teratoma and retinitis pigmentosa 22, and has symptoms including autosomal dominant inheritance, renal insufficiency and abnormality of the renal tubule. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot:67 Glomerulocystic kidney disease with hyperuricemia and isosthenuria: A renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.

Related Diseases for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Diseases related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cystic teratoma9.9HNF1B, UMOD
2retinitis pigmentosa 229.6HNF1B, MCKD2, UMOD
3glomerulocystic kidney disease with hyperuricemia and isosthenuria9.5HNF1B, MCKD2, UMOD
4medullary cystic kidney disease 29.4HNF1B, MCKD2, UMOD

Symptoms for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Clinical features from OMIM:

609886

HPO human phenotypes related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 abnormality of the renal tubule HP:0000091
4 hyperuricemia HP:0002149
5 multiple glomerular cysts HP:0100611

Drugs & Therapeutics for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Genetic Tests for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Genetic tests related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

id Genetic test Affiliating Genes
1 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria24

Anatomical Context for Glomerulocystic Kidney Disease with Hyperuricemia and...

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MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

33
Kidney

Animal Models for Glomerulocystic Kidney Disease with Hyperuricemia and... or affiliated genes

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Publications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Variations for Glomerulocystic Kidney Disease with Hyperuricemia and...

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UniProtKB/Swiss-Prot genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

67
id Symbol AA change Variation ID SNP ID
1UMODp.Cys315ArgVAR_025961

Clinvar genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UMODNM_003361.3(UMOD): c.943T> C (p.Cys315Arg)single nucleotide variantPathogenicrs121917773GRCh37Chr 16, 20359575: 20359575

Expression for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Search GEO for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.

Pathways for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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GO Terms for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Sources for Glomerulocystic Kidney Disease with Hyperuricemia and...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet