MCID: DHY008
MIFTS: 11

Dihydroxyadeninuria malady

Categories: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

Aliases & Descriptions for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 50
Adenine Phosphoribosyltransferase Deficiency 69
Aprt Deficiency 50

Classifications:



Summaries for Dihydroxyadeninuria

MalaCards based summary : Dihydroxyadeninuria, also known as adenine phosphoribosyltransferase deficiency, is related to adenine phosphoribosyltransferase deficiency and lesch-nyhan syndrome. An important gene associated with Dihydroxyadeninuria is APRT (Adenine Phosphoribosyltransferase). The drugs Allopurinol and Febuxostat have been mentioned in the context of this disorder.

Related Diseases for Dihydroxyadeninuria

Diseases related to Dihydroxyadeninuria via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 11.9
2 lesch-nyhan syndrome 9.8
3 xanthinuria 9.8
4 primary hyperoxaluria 9.8
5 teratocarcinoma 9.8
6 hereditary xanthinuria 9.8

Graphical network of the top 20 diseases related to Dihydroxyadeninuria:



Diseases related to Dihydroxyadeninuria

Symptoms & Phenotypes for Dihydroxyadeninuria

Drugs & Therapeutics for Dihydroxyadeninuria

Drugs for Dihydroxyadeninuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 4 315-30-0 2094
2
Febuxostat Approved Phase 4 144060-53-7 134018
3 Antimetabolites Phase 4
4 Antioxidants Phase 4
5 Antirheumatic Agents Phase 4
6 Protective Agents Phase 4
7 Noni Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4
2 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
3 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
4 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
5 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

id Title Authors Year
1
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. ( 9608233 )
1998

Variations for Dihydroxyadeninuria

Expression for Dihydroxyadeninuria

Search GEO for disease gene expression data for Dihydroxyadeninuria.

Pathways for Dihydroxyadeninuria

GO Terms for Dihydroxyadeninuria

Sources for Dihydroxyadeninuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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