MCID: DHY008

Dihydroxyadeninuria malady

Rare diseases category
Download this MalaCard

Summaries for Dihydroxyadeninuria

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
43NIH Rare Diseases, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

dihydroxyadeninuria 43
deficiency of amp pyrophorylase 62
aprt deficiency 43


Related Diseases for Dihydroxyadeninuria

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Dihydroxyadeninuria

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Dihydroxyadeninuria

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

About this section

Anatomical Context for Dihydroxyadeninuria

About this section

Animal Models for Dihydroxyadeninuria or affiliated genes

About this section

Publications for Dihydroxyadeninuria

About this section
Sources:
52PubMed
See all sources

Articles related to Dihydroxyadeninuria:

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

Variations for Dihydroxyadeninuria

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Dihydroxyadeninuria

About this section

GO Terms for genes affiliated with Dihydroxyadeninuria

About this section

Products for genes affiliated with Dihydroxyadeninuria

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydroxyadeninuria

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet