MCID: DHY008

Dihydroxyadeninuria malady

Summaries for Dihydroxyadeninuria

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22MalaCards
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MalaCards: Dihydroxyadeninuria, also known as aprt deficiency, is related to adenine phosphoribosyltransferase deficiency and lesch-nyhan syndrome. An important gene associated with Dihydroxyadeninuria is APRT (adenine phosphoribosyltransferase).

Aliases & Descriptions for Dihydroxyadeninuria

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30NIH Rare Diseases
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dihydroxyadeninuria 30
aprt deficiency 30

Related Diseases for Dihydroxyadeninuria

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13GeneCards, 14GeneDecks
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Diseases related to dihydroxyadeninuria by text searches and GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency7.7
2lesch-nyhan syndrome6.1
3xanthinuria6.1

Clinical Features for Dihydroxyadeninuria

Drugs & Therapeutics for Dihydroxyadeninuria

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

Phenotypes for genes affiliated with Dihydroxyadeninuria

Publications for genes affiliated with Dihydroxyadeninuria

Sources:
35PubMed
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Articles related to dihydroxyadeninuria:

idTitleAuthorsYearAffiliating Genes
1Acute renal failure and 2,8-dihydroxyadeninuria (15584640)Hoffmann M.... Daudon M.2004APRT
2Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria (9608233)Safranow K.1998APRT

Expression for genes affiliated with Dihydroxyadeninuria

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Dihydroxyadeninuria

Pathways for genes affiliated with Dihydroxyadeninuria

Compounds for genes affiliated with Dihydroxyadeninuria

GO Terms for genes affiliated with Dihydroxyadeninuria

Sources for Dihydroxyadeninuria

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS