MCID: DHY008

Dihydroxyadeninuria malady

Rare diseases category

Summaries for Dihydroxyadeninuria

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34MalaCards
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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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44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

dihydroxyadeninuria 44
deficiency of amp pyrophorylase 63
aprt deficiency 44


Related Diseases for Dihydroxyadeninuria

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18GeneCards, 19GeneDecks
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Diseases related to Dihydroxyadeninuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency10.6
2lesch-nyhan syndrome10.1
3teratocarcinoma10.1

Symptoms for Dihydroxyadeninuria

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Drugs & Therapeutics for Dihydroxyadeninuria

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Publications for Dihydroxyadeninuria

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53PubMed
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Articles related to Dihydroxyadeninuria:

idTitleAuthorsYear
1
Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. (9608233)
1998

Variations for Dihydroxyadeninuria

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dihydroxyadeninuria:

1
id Gene Name Type Significance SNP ID Assembly Location
1APRTNM_000485.2(APRT): c.321+2dupTduplicationPathogenicrs281860263GRCh37Chr 16, 88876828: 88876829
2APRTNM_000485.2(APRT): c.407T> C (p.Met136Thr)single nucleotide variantPathogenicrs28999113GRCh37Chr 16, 88876242: 88876242
3APRTNM_000485.2(APRT): c.194A> T (p.Asp65Val)single nucleotide variantPathogenicrs104894506GRCh37Chr 16, 88876958: 88876958
4APRTNM_000485.2(APRT): c.294G> A (p.Trp98Ter)single nucleotide variantPathogenicrs104894507GRCh37Chr 16, 88876858: 88876858
5APRTNM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs)duplicationPathogenicrs281860265GRCh37Chr 16, 88876891: 88876894
6APRTNM_000485.2(APRT): c.448G> T (p.Val150Phe)single nucleotide variantPathogenicrs281860266GRCh37Chr 16, 88876201: 88876201

Expression for genes affiliated with Dihydroxyadeninuria

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dihydroxyadeninuria

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet