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MCID: DHY008
MIFTS: 12

Dihydroxyadeninuria malady
1 gene, 6 related diseases, clinical trials.

Summaries for Dihydroxyadeninuria

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33MalaCards
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MalaCards: Dihydroxyadeninuria, also known as deficiency of amp pyrophorylase, is related to adenine phosphoribosyltransferase deficiency and lesch-nyhan syndrome. An important gene associated with Dihydroxyadeninuria is APRT (adenine phosphoribosyltransferase).

Aliases & Classifications for Dihydroxyadeninuria

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

dihydroxyadeninuria 43
deficiency of amp pyrophorylase 61
aprt deficiency 43


Related Diseases for Dihydroxyadeninuria

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17GeneCards, 18GeneDecks
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Diseases related to Dihydroxyadeninuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency10.7
2lesch-nyhan syndrome10.1
3teratocarcinoma10.1
4protein s deficiency10.1
5protein c deficiency10.1
6t cell deficiency10.1

Graphical network of diseases related to Dihydroxyadeninuria:



Diseases related to dihydroxyadeninuria

Clinical Features for Dihydroxyadeninuria

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Drugs & Therapeutics for Dihydroxyadeninuria

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dihydroxyadeninuria

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Anatomical Context for Dihydroxyadeninuria

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Animal Models for Dihydroxyadeninuria or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Dihydroxyadeninuria

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51PubMed
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Articles related to Dihydroxyadeninuria:

idTitleAuthorsYear
1
2,8-dihydroxyadeninuria disease. (23064195)
2012
2
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. (20064951)
2010
3
2,8-dihydroxyadeninuria: are there no cases in Scandinavia? (15764278)
2005
4
Acute renal failure and 2,8-dihydroxyadeninuria]. (15584640)
2004
5
Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. (9608233)
1998
6
Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria. (9306356)
1997
7
2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control. (3176201)
1988
8
2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone? (389507)
1979

Genetic Variations for Dihydroxyadeninuria

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Expression for genes affiliated with Dihydroxyadeninuria

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dihydroxyadeninuria

Search GEO for disease gene expression data for Dihydroxyadeninuria.

Pathways for genes affiliated with Dihydroxyadeninuria

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Compounds for genes affiliated with Dihydroxyadeninuria

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GO Terms for genes affiliated with Dihydroxyadeninuria

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Products for genes affiliated with Dihydroxyadeninuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydroxyadeninuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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