MCID: GLM024
MIFTS: 11

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

About this section


Fully expand this MalaCard
MalaCards based summary: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is related to primary hyperoxaluria and umod-associated kidney disease, and has symptoms including An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (uromodulin). Affiliated tissues include kidney.

Description from OMIM:46 609886

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

About this section

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

Name: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria10.1UMOD
2umod-associated kidney disease9.8UMOD, MCKD2
3familial juvenile hyperuricaemic nephropathy9.8UMOD, MCKD2

Symptoms for Glomerulocystic Kidney Disease with Hyperuricemia and...

About this section


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

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

About this section

Drug clinical trials:

Search ClinicalTrials for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

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

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

About this section

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

About this section

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

32
Kidney

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

About this section

Publications for Glomerulocystic Kidney Disease with Hyperuricemia and...

About this section

Variations for Glomerulocystic Kidney Disease with Hyperuricemia and...

About this section

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

64
id Symbol AA change Variation ID SNP ID
1UMODp.Cys315ArgVAR_025961

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

6
id Gene Name 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...

About this section
Expression patterns in normal tissues for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Glomerulocystic Kidney Disease with Hyperuricemia and...

About this section
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