GCKDHI
MCID: GLM024
MIFTS: 15

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (GCKDHI) 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 52 70 27 12
 
Gckdhi 70

Characteristics:

HPO:

64
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 609886
MedGen37 C1835934
MeSH39 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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OMIM:52 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:70 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 abnormality of the renal tubule64 HP:0000091
3 hyperuricemia64 HP:0002149
4 multiple glomerular cysts64 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 Isosthenuria27

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:

36
Kidney

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet