Aliases & Classifications for Dihydroxyadeninuria

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Aliases & Descriptions for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 45
Adenine Phosphoribosyltransferase Deficiency 65
 
2,8-Dihydroxyadenine Urolithiasis 65
Aprt Deficiency 45


Classifications:



Summaries for Dihydroxyadeninuria

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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). Affiliated tissues include kidney.

Related Diseases for Dihydroxyadeninuria

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

idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency10.7
2lesch-nyhan syndrome10.2
3primary hyperoxaluria10.2
4teratocarcinoma10.2
5xanthinuria10.2
6hereditary xanthinuria10.2

Graphical network of diseases related to Dihydroxyadeninuria:



Diseases related to dihydroxyadeninuria

Symptoms for Dihydroxyadeninuria

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Drugs & Therapeutics for Dihydroxyadeninuria

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1NoniNutraceutical8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
2Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
3Health-related Quality of Life in Rare Kidney StoneRecruitingNCT02124395

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

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Anatomical Context for Dihydroxyadeninuria

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MalaCards organs/tissues related to Dihydroxyadeninuria:

33
Kidney

Animal Models for Dihydroxyadeninuria or affiliated genes

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Publications for Dihydroxyadeninuria

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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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Clinvar genetic disease variations for Dihydroxyadeninuria:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1APRTNM_000485.2(APRT): c.517_519delTTC (p.Phe174del)deletionPathogenicrs121912681GRCh37Chr 16, 88876130: 88876132
2APRTNM_000485.2(APRT): c.321+2dupTduplicationPathogenicrs281860263GRCh37Chr 16, 88876829: 88876829
3APRTNM_000485.2(APRT): c.407T> C (p.Met136Thr)single nucleotide variantPathogenicrs28999113GRCh37Chr 16, 88876242: 88876242
4APRTNM_000485.2(APRT): c.194A> T (p.Asp65Val)single nucleotide variantPathogenicrs104894506GRCh37Chr 16, 88876958: 88876958
5APRTNM_000485.2(APRT): c.294G> A (p.Trp98Ter)single nucleotide variantPathogenicrs104894507GRCh37Chr 16, 88876858: 88876858
6APRTNM_000485.2(APRT): c.258_261dupCCGA (p.Lys88Profs)duplicationPathogenicrs281860265GRCh37Chr 16, 88876891: 88876894
7APRTNM_000485.2(APRT): c.329T> C (p.Leu110Pro)single nucleotide variantPathogenicrs104894508GRCh37Chr 16, 88876549: 88876549
8APRTAPRT, 254-BP DEL AND 8-BP INSindelPathogenic
9APRTNM_000485.2(APRT): c.542G> C (p.Ter181Ser)single nucleotide variantPathogenicrs387906584GRCh37Chr 16, 88876107: 88876107
10APRTNM_000485.2(APRT): c.400+2dupTduplicationPathogenicrs745594160GRCh38Chr 16, 88810068: 88810068
11APRTNM_000485.2(APRT): c.448G> T (p.Val150Phe)single nucleotide variantPathogenicrs281860266GRCh37Chr 16, 88876201: 88876201

Expression for genes affiliated with Dihydroxyadeninuria

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Search GEO for disease gene expression data for Dihydroxyadeninuria.

Pathways for genes affiliated with Dihydroxyadeninuria

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GO Terms for genes affiliated with Dihydroxyadeninuria

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Sources for Dihydroxyadeninuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet