MCID: DHY008
MIFTS: 10

Dihydroxyadeninuria malady

Category: Rare diseases

Aliases & Classifications for Dihydroxyadeninuria

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Aliases & Descriptions for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria 46
Adenine Phosphoribosyltransferase Deficiency 66
 
Aprt Deficiency 46

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 deficiency11.8
2lesch-nyhan syndrome9.9
3xanthinuria9.9
4primary hyperoxaluria9.9
5teratocarcinoma9.9
6hereditary xanthinuria9.9

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
1
FebuxostatPhase 451144060-53-7134018
Synonyms:
111GE013
144060-53-7
2-(3-CYANO-4-ISOBUTOXY-PHENYL)-4-METHYL-5-THIAZOLE-CARBOXYLIC ACID
2-(3-Cyano-4-(2-methylpropoxy)phenyl)-4-methylthiazole-5-carboxylic acid
2-(3-Cyano-4-isobutoxyphenyl)-4-methyl-5-thiazolecarboxylic acid
2-(3-cyano-4-isobutoxyphenyl)-4-methyl- 1,3-thiazole-5-carboxylic acid
2-[3-cyano-4-(2-methylpropoxy)phenyl]-4-methyl-1,3-thiazole-5-carboxylic acid
AC-425
AC1L33UC
Adenuric
C16H16N2O3S
CHEBI:45943
CHEBI:747206
CHEMBL1164729
CID134018
D01206
DB03786
 
FT-0081351
Febuxostat
Febuxostat (JAN/USAN/INN)
Febuxostat [USAN]
Febuxostatum
Fébuxostat
LS-173202
MolPort-005-940-740
S1547
S1547_Selleck
TEI
TMX 67
TMX-67
TMX-67, Adenuric, Uloric, Febuxostat
Tei 6720
Tei-6720
UNII-101V0R1N2E
Uloric
2
AllopurinolPhase 4133315-30-02094
Synonyms:
1,5-Dihydro-4H-pyrazolo(3,4-D)pyrimidin-4-one
1,5-Dihydro-4H-pyrazolo(3,4-D)pyrimidine-4-one
184856-42-6
1H-Pyrazolo(3,4-D)pyrimidin-4-ol
22767-92-6
315-30-0
39464-14-7
4'-Hydroxypyrazolol(3,4-D)pyrimidine
4-HPP
4-Hydroxy-1H-pyrazolo(3,4-D)pyrimidine
4-Hydroxy-3,4-pyrazolopyrimidine
4-Hydroxypyrazolo(3,4-D)pyrimidine
4-Hydroxypyrazolopyrimidine
4-Hydroxypyrazolyl(3,4-D)pyrimidine
4H-Pyrazolo(3,4-D)pyrimidin-4-one
7HP
A 8003
A0907
A8003_SIGMA
AC-019
AC1L1CWL
AC1Q6FWV
AC1Q6GP7
AKOS000267490
AKOS000269759
AL-100
Adenock
Ailural
Ailurial
Allo-Puren
Allohexal
Allohexan
Alloprin
Allopur
Allopurin
Allopurinol
Allopurinol Sodium
Allopurinol(I)
Allopurinolum
Allopurinolum [INN-Latin]
Allorin
Allozym
Allpargin
Allural
Aloprim
Alopurinol
Alopurinol [INN-Spanish]
Aloral
Alositol
Aluline
Anoprolin
Anzief
Apo-Allopurinol
Apulonga
Apurin
Apurol
Atisuril
B. W. 56-158
BB_SC-5394
BIM-0061756.0001
BSPBio_001798
BW 56-158
BW 56158
BW-56-158
Bio-0799
Bleminol
Bloxanth
C5H4N4O
CCRIS 626
CHEBI:40279
CHEBI:495607
CHEMBL1467
CID2094
CPD-9024
CPD000059083
Caplenal
Capurate
Cellidrin
Cosuric
D000493
DB00437
Dabrosin
Dabroson
DivK1c_000685
Dura Al
EINECS 206-250-9
EN000932
EU-0100102
Embarin
Epidropal
Epuric
Foligan
Geapur
Gichtex
Gotax
HMS1920A15
HMS2091G15
HMS502C07
HPP
 
HSDB 3004
Hamarin
Hexanuret
I03-0052
IDI1_000685
Jenapurinol
Jsp005881
KBio1_000685
KBio2_000386
KBio2_002954
KBio2_005522
KBio3_001298
KBioGR_000550
KBioSS_000386
Ketanrift
Ketobun-A
LS-1180
Ledopur
Lopac-A-8003
Lopac0_000102
Lopurin
Lysuron
MLS000069453
MLS001148183
Milurit
Milurite
Miniplanor
MolPort-000-141-383
MolPort-000-870-337
MolPort-004-758-159
MolPort-004-758-166
MolPort-004-758-167
MolPort-004-758-643
Monarch
NCGC00015094-01
NCGC00015094-03
NCGC00015094-06
NCGC00091134-01
NCGC00091134-02
NCGC00091134-03
NCGC00094580-01
NCGC00094580-02
NCIOpen2_001825
NINDS_000685
NSC 101655
NSC 1390
NSC-1390
NSC101655
NSC1390
Nektrohan
Novopurol
Pan Quimica
Prestwick_511
Progout
Pureduct
Purinol
Quimica, Pan
Remid
Riball
Rimapurinol
Roucol
S1630_Selleck
SAM002554884
SMR000059083
SPBio_000056
SPECTRUM1500108
STK378584
STK711106
Sigapurol
Spectrum2_000098
Spectrum3_000289
Spectrum4_000135
Spectrum5_000768
Spectrum_000026
Suspendol
Takanarumin
Tipuric
UNII-63CZ7GJN5I
Urbol
Uribenz
Uricemil
Uridocid
Uriprim
Uripurinol
Uritas
Urobenyl
Urolit
Urosin
Urtias
Urtias 100
Xanthomax
Xanturat
Xanturic
Zygout
Zyloprim
Zyloprim (tn)
Zyloric
allopurinol
nchembio.92-comp3
nchembio732-comp4

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine ExcretionCompletedNCT02752633Phase 4
2Rare Kidney Stone Consortium BiobankRecruitingNCT02026388
3Rare Kidney Stone Consortium Patient RegistryRecruitingNCT00588562
4Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
5Health-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:

34
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
id Gene Variation Type Significance SNP ID Assembly Location
1APRTNM_000485.2(APRT): c.407T> C (p.Met136Thr)single nucleotide variantPathogenicrs28999113GRCh37Chr 16, 88876242: 88876242

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet