Dihydroxyadeninuria disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Dihydroxyadeninuria

Sources:
⁶⁵UMLS, ⁴⁵NIH Rare Diseases
See all MalaCards sources

Aliases & Descriptions for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria ⁴⁵

Adenine Phosphoribosyltransferase Deficiency ⁶⁵

Aprt Deficiency ⁴⁵

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

Summaries for Dihydroxyadeninuria

Sources:
³³MalaCards
See all MalaCards sources

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 and lung.

Related Diseases for Dihydroxyadeninuria

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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

id	Related Disease	Score
1	adenine phosphoribosyltransferase deficiency	11.8
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 diseases related to Dihydroxyadeninuria:

Symptoms for Dihydroxyadeninuria

Drugs & Therapeutics for Dihydroxyadeninuria

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

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

129

315-30-0

2094

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

2

Febuxostat

Phase 4

50

144060-53-7

134018

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-(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]

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

3

Protective Agents

Phase 4

5651

4

Antirheumatic Agents

Phase 4

8496

5

Antioxidants

Phase 4

2442

6

Antimetabolites

Phase 4

9454

7

Noni

Nutraceutical

9

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 Biobank	Recruiting	NCT02026388
3	Rare Kidney Stone Consortium Patient Registry	Recruiting	NCT00588562
4	Prospective Research Rare Kidney Stones (ProRKS)	Recruiting	NCT02780297
5	Health-related Quality of Life in Rare Kidney Stone	Recruiting	NCT02124395

Search NIH Clinical Center for Dihydroxyadeninuria

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

Sources:
³³MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Dihydroxyadeninuria:

³³

Kidney, Lung

Animal Models for Dihydroxyadeninuria or affiliated genes

Publications for Dihydroxyadeninuria

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to Dihydroxyadeninuria:

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

Genes related to Dihydroxyadeninuria

Sources:
²⁰GeneCards, ⁵Clinvar
See all MalaCards sources

Genes related to Dihydroxyadeninuria (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	APRT	Adenine Phosphoribosyltransferase	417.93	Pathogenic ⁵ GeneCards inferred via : Publications (show sections)

Variations for Dihydroxyadeninuria

Sources:
⁵Clinvar
See all MalaCards sources

Clinvar genetic disease variations for Dihydroxyadeninuria:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	APRT	NM_000485.2(APRT): c.407T> C (p.Met136Thr)	single nucleotide variant	Pathogenic	rs28999113	GRCh37	Chr 16, 88876242: 88876242

Expression for genes affiliated with Dihydroxyadeninuria

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Dihydroxyadeninuria.

Pathways for genes affiliated with Dihydroxyadeninuria

GO Terms for genes affiliated with Dihydroxyadeninuria

Sources for Dihydroxyadeninuria

¹BitterDB

²CDC

³Cell Signaling Technology

⁴ClinicalTrials

⁵Clinvar

⁶Cochrane Library

⁷Cosmic

⁸dbSNP

⁹DGIdb

¹⁰Disease Ontology

¹¹diseasecard

¹²DISEASES

¹³DrugBank

¹⁴ExPASy

¹⁵FDA

¹⁶FMA

¹⁷Gene Expression Omnibus DataSets

¹⁸Gene Ontology

¹⁹GeneAnalytics

²⁰GeneCards

²¹GeneReviews

²²GeneTests

²³Genetics Home Reference

²⁴GTR

²⁵HGMD

²⁶HMDB

²⁷ICD10

²⁸ICD10 via Orphanet

²⁹ICD9CM

³⁰IUPHAR

³¹KEGG

³²LifeMap Discovery®

³³MalaCards

³⁴MedGen

³⁵MedlinePlus

³⁶MeSH

³⁷MESH via Orphanet

³⁸MGI

³⁹NCBI BioSystems Database

⁴⁰NCBI Bookshelf

⁴¹NCI

⁴²NCIt

⁴³NDF-RT

⁴⁴NIH Clinical Center

⁴⁵NIH Rare Diseases

⁴⁶NINDS

⁴⁷Novoseek

⁴⁸Novus Biologicals

⁴⁹OMIM

⁵⁰OMIM via Orphanet

⁵¹Orphanet

⁵²PathCards

⁵³PharmGKB

⁵⁴PubMed

⁵⁵QIAGEN

⁵⁶R&D Systems

⁵⁷Reactome

⁵⁸SinoBiological

⁵⁹SNOMED-CT

⁶⁰SNOMED-CT via Orphanet

⁶¹The Human Phenotype Ontology

⁶²Thomson Reuters

⁶³Tocris Bioscience

⁶⁴Tumor Gene Family of Databases

⁶⁵UMLS

⁶⁶UMLS via Orphanet

⁶⁷UniProtKB/Swiss-Prot

⁶⁸Wikipedia

MCID: DHY008 MIFTS: 13	Dihydroxyadeninuria malady Category: Rare diseases
Gene Variation Tissues Related diseases Publication Drugs Download this MalaCard Expand all tables

Dihydroxyadeninuria malady

Aliases & Classifications for Dihydroxyadeninuria

Aliases & Descriptions for Dihydroxyadeninuria:

Classifications:

Summaries for Dihydroxyadeninuria

Related Diseases for Dihydroxyadeninuria

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

Graphical network of diseases related to Dihydroxyadeninuria:

Symptoms for Dihydroxyadeninuria

Drugs & Therapeutics for Dihydroxyadeninuria

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

Interventional clinical trials:

Genetic Tests for Dihydroxyadeninuria

Anatomical Context for Dihydroxyadeninuria

MalaCards organs/tissues related to Dihydroxyadeninuria:

Animal Models for Dihydroxyadeninuria or affiliated genes

Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

Genes related to Dihydroxyadeninuria

Genes related to Dihydroxyadeninuria (1 elite genes):

Variations for Dihydroxyadeninuria

Clinvar genetic disease variations for Dihydroxyadeninuria:

Expression for genes affiliated with Dihydroxyadeninuria

Pathways for genes affiliated with Dihydroxyadeninuria

GO Terms for genes affiliated with Dihydroxyadeninuria

Sources for Dihydroxyadeninuria