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

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Aliases & Classifications for Dihydroxyadeninuria

MalaCards integrated aliases for Dihydroxyadeninuria:

Name: Dihydroxyadeninuria ⁴⁹

Adenine Phosphoribosyltransferase Deficiency ⁶⁹

Aprt Deficiency ⁴⁹

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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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.

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Related Diseases for Dihydroxyadeninuria

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

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Dihydroxyadeninuria

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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

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-HPP

4H-Pyrazolo(3,4-d)pyrimidin-4-one

4-Hydroxy-1H-pyrazolo(3,4-d)pyrimidine

4-Hydroxy-3,4-pyrazolopyrimidine

4-Hydroxypyrazolo(3,4-d)pyrimidine

4'-Hydroxypyrazolol(3,4-d)pyrimidine

4-Hydroxypyrazolopyrimidine

4-Hydroxypyrazolyl(3,4-d)pyrimidine

7HP

A 8003

A0907

A8003_SIGMA

AC-019

AC1L1CWL

AC1Q6FWV

AC1Q6GP7

Adenock

Ailural

Ailurial

AKOS000267490

AKOS000269759

AL-100

Allohexal

Allohexan

Alloprin

Allopur

Allo-Puren

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

Bio-0799

Bleminol

Bloxanth

BSPBio_001798

BW 56158

BW 56-158

BW-56-158

C5H4N4O

Caplenal

Capurate

CCRIS 626

Cellidrin

CHEBI:40279

CHEBI:495607

CHEMBL1467

CID2094

Cosuric

CPD000059083

CPD-9024

D000493

Dabrosin

Dabroson

DB00437

DivK1c_000685

Dura Al

EINECS 206-250-9

Embarin

EN000932

Epidropal

Epuric

EU-0100102

Foligan

Geapur

Gichtex

Gotax

Hamarin

Hexanuret

HMS1920A15

HMS2091G15

HMS502C07

HPP

HSDB 3004

I03-0052

IDI1_000685

Jenapurinol

Jsp005881

KBio1_000685

KBio2_000386

KBio2_002954

KBio2_005522

KBio3_001298

KBioGR_000550

KBioSS_000386

Ketanrift

Ketobun-A

Ledopur

Lopac0_000102

Lopac-A-8003

Lopurin

LS-1180

Lysuron

Milurit

Milurite

Miniplanor

MLS000069453

MLS001148183

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

nchembio.92-comp3

nchembio732-comp4

NCIOpen2_001825

Nektrohan

NINDS_000685

Novopurol

NSC 101655

NSC 1390

NSC101655

NSC1390

NSC-1390

Pan Quimica

Prestwick_511

Progout

Pureduct

Purinol

Quimica, Pan

Remid

Riball

Rimapurinol

Roucol

S1630_Selleck

SAM002554884

Sigapurol

SMR000059083

SPBio_000056

Spectrum_000026

SPECTRUM1500108

Spectrum2_000098

Spectrum3_000289

Spectrum4_000135

Spectrum5_000768

STK378584

STK711106

Suspendol

Takanarumin

Tipuric

UNII-63CZ7GJN5I

Urbol

Uribenz

Uricemil

Uridocid

Uriprim

Uripurinol

Uritas

Urobenyl

Urolit

Urosin

Urtias

Urtias 100

Xanthomax

Xanturat

Xanturic

Zygout

Zyloprim

Zyloric

2

Febuxostat

Approved

Phase 4

144060-53-7

134018

Synonyms:

111GE013

144060-53-7

2-(3-Cyano-4-(2-methylpropoxy)phenyl)-4-methylthiazole-5-carboxylic acid

2-(3-cyano-4-isobutoxyphenyl)-4-methyl- 1,3-thiazole-5-carboxylic acid

2-(3-Cyano-4-isobutoxyphenyl)-4-methyl-5-thiazolecarboxylic acid

2-(3-CYANO-4-ISOBUTOXY-PHENYL)-4-METHYL-5-THIAZOLE-CARBOXYLIC ACID

2-[3-cyano-4-(2-methylpropoxy)phenyl]-4-methyl-1,3-thiazole-5-carboxylic acid

AC1L33UC

AC-425

Adenuric

C16H16N2O3S

CHEBI:45943

CHEBI:747206

CHEMBL1164729

CID134018

D01206

DB03786

Febuxostat

Fébuxostat

Febuxostat (JAN/USAN/INN)

Febuxostat [USAN]

Febuxostatum

FT-0081351

LS-173202

MolPort-005-940-740

S1547

S1547_Selleck

TEI

Tei 6720

Tei-6720

TMX 67

TMX-67

TMX-67, Adenuric, Uloric, Febuxostat

Uloric

UNII-101V0R1N2E

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

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Genetic Tests for Dihydroxyadeninuria

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Anatomical Context for Dihydroxyadeninuria

MalaCards organs/tissues related to Dihydroxyadeninuria:

³⁸

Kidney, Testes

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Publications for Dihydroxyadeninuria

Articles related to Dihydroxyadeninuria:

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

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Genes for Dihydroxyadeninuria

Genes related to Dihydroxyadeninuria (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	APRT	Adenine Phosphoribosyltransferase	Protein Coding	17.89	GeneCards inferred via : Publications (show sections)

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Variations for Dihydroxyadeninuria

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Expression for Dihydroxyadeninuria

Search GEO for disease gene expression data for Dihydroxyadeninuria.

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Pathways for Dihydroxyadeninuria

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GO Terms for Dihydroxyadeninuria

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Sources for Dihydroxyadeninuria

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁵ DrugBank

¹⁶ ExPASy

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¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia