MCID: DHY008
MIFTS: 12

Dihydroxyadeninuria malady

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

Sources:
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

Drugs & Therapeutics for Dihydroxyadeninuria

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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

Anatomical Context for Dihydroxyadeninuria

Animal Models for Dihydroxyadeninuria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dihydroxyadeninuria

Sources:
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

Expression for genes affiliated with Dihydroxyadeninuria

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

Compounds for genes affiliated with Dihydroxyadeninuria

GO Terms for genes affiliated with Dihydroxyadeninuria

Products for genes affiliated with Dihydroxyadeninuria

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydroxyadeninuria

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