MCID: GLM024
MIFTS: 19

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 50 68 25 12
 
Gckdhi 68

Characteristics:

HPO:

62
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 609886
MedGen35 C1835934
MeSH37 D052177

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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OMIM:50 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 carbohydrate metabolic disorder and deafness, autosomal recessive 22, 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:68 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
1carbohydrate metabolic disorder9.7HNF1B, UMOD
2deafness, autosomal recessive 228.9HNF1B, MCKD2, UMOD
3retinitis pigmentosa 228.8HNF1B, MCKD2, UMOD
4glomerulocystic kidney disease with hyperuricemia and isosthenuria8.6HNF1B, 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 renal insufficiency HP:0000083
2 abnormality of the renal tubule HP:0000091
3 hyperuricemia HP:0002149
4 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 Isosthenuria25

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:

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet