MCID: DHY008
MIFTS: 14

Dihydroxyadeninuria

Categories: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

MalaCards integrated aliases for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 49
Adenine Phosphoribosyltransferase Deficiency 69
Aprt Deficiency 49

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. Affiliated tissues include kidney and testes.

Related Diseases for Dihydroxyadeninuria

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

# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 12.1
2 lesch-nyhan syndrome 9.9
3 xanthinuria 9.9
4 primary hyperoxaluria 9.9
5 teratocarcinoma 9.9
6 hereditary xanthinuria 9.9

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)
# 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 Protective Agents Phase 4
5 Antioxidants Phase 4
6 Antirheumatic Agents Phase 4
7 Noni Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
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
6 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

MalaCards organs/tissues related to Dihydroxyadeninuria:

38
Kidney, Testes

Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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