MCID: GLM024
MIFTS: 15

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Category: Genetic diseases (common)

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 51 69 26 12
 
Gckdhi 69

Characteristics:

HPO:

63
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 609886
MedGen36 C1835934
MeSH38 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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OMIM:51 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, is also known as gckdhi, and has symptoms including renal insufficiency, abnormality of the renal tubule and hyperuricemia. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot:69 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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Symptoms for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Clinical features from OMIM:

609886

Human phenotypes related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

 63
id Description HPO Frequency HPO Source Accession
1 renal insufficiency63 HP:0000083
2 abnormality of the renal tubule63 HP:0000091
3 hyperuricemia63 HP:0002149
4 multiple glomerular cysts63 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 Isosthenuria26

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:

35
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:

69
id Symbol AA change Variation ID SNP ID
1UMODp.Cys315ArgVAR_025961rs121917773

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)SNVPathogenicrs121917773GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet