MCID: DHY008

Dihydroxyadeninuria malady

Rare diseases category
Download this MalaCard

Summaries for Dihydroxyadeninuria

About this section


Fully expand this MalaCard
MalaCards based summary: 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 & Classifications for Dihydroxyadeninuria

About this section

Dihydroxyadeninuria, Aliases & Descriptions:

Name: Dihydroxyadeninuria 42
 
Aprt Deficiency 42 62


Classifications:

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


Related Diseases for Dihydroxyadeninuria

About this section

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

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

Articles related to Dihydroxyadeninuria:

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

Variations for Dihydroxyadeninuria

About this section

Expression for genes affiliated with Dihydroxyadeninuria

About this section
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

Sources for Dihydroxyadeninuria

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet