Lesch-Nyhan syndrome (Q727436)

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rare genetic syndrome

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Language	Label	Description	Also known as
English	Lesch-Nyhan syndrome	rare genetic syndrome	Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous] Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) Lesch - Nyhan syndrome Lesch-Nyhan syndrome (disorder) X-linked hyperuricemia (disorder) [Ambiguous] deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome, LNS Hypoxanthine-guanine phosphoribosyltransferase deficiency X-linked hyperuricemia Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch-Nyhan Disease LNS

Statements

instance of

rare disease

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class of disease

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subclass of

inborn errors of purine–pyrimidine metabolism

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

X-linked recessive disease

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

hypoxanthine-guanine phosphoribosyltransferase deficiency

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disease

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image

Dermatophagia.jpg
1,020 × 854; 486 KB

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named after

Michael Lesch

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William Nyhan

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has cause

Hypoxanthine phosphoribosyltransferase 1

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health specialty

endocrinology

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symptoms and signs

self-injury

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drug or therapy used for treatment

allopurinol

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genetic association

HPRT1

1 reference

stated in

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C61255

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

exact match

http://purl.obolibrary.org/obo/DOID_1919

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

http://identifiers.org/doid/DOID:1919

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

NDL Authority ID

00576013

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MeSH descriptor ID

D007926

subject named as

Lesch-Nyhan Syndrome

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

MeSH tree code

C10.228.140.163.100.425

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C10.597.606.360.455.625

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C16.320.322.500.625

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C16.320.400.525.625

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C16.320.565.189.425

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C16.320.565.798.594

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C18.452.132.100.425

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C18.452.648.189.425

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C18.452.648.798.594

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MedlinePlus ID

001655

1 reference

imported from Wikimedia project

English Wikipedia

KEGG ID

H00194

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DeCS ID

8104

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Disease Ontology ID

DOID:1919

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

DiseasesDB

7415

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

1181356

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

science/Lesch-Nyhan-syndrome

subject named as

Lesch-Nyhan syndrome

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Freebase ID

/m/047c68

1 reference

stated in

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

7226

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GeneReviews ID

NBK1149

1 reference

imported from Wikimedia project

English Wikipedia

Genetics Home Reference Conditions ID

lesch-nyhan-syndrome

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Gran Enciclopèdia Catalana ID

sindrome-de-lesch-nyhan

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Gran Enciclopèdia Catalana ID (former scheme)

0037017

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ICD-10-CM

E79.1

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

ICD-11 (foundation)

1886495906

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ICD-11 ID (MMS)

5C55.01

subject named as

Lesch-Nyhan syndrome

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ICD-9 ID

277.2

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

2777766392

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Mondo ID

MONDO_0010298

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OMIM ID

300322

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

OpenAlex ID

C2777766392

1 reference

stated in

OpenAlex

retrieved

26 January 2022

reference URL

https://docs.openalex.org/download-snapshot/snapshot-data-format

Orphanet ID

510

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Patientplus ID

Lesch-Nyhan-Syndrome-(LNS)

1 reference

reference URL

http://www.patient.co.uk/patientplus/l.htm

UMLS CUI

C0023374

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:1919

UniProt disease ID

DI-01892

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WikiProjectMed ID

Lesch–Nyhan syndrome

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Sitelinks

Wikipedia(23 entries)

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• arwiki متلازمة ليش نيهان
• azwiki Leşh-Nyhan sindromu
• cawiki Síndrome de Lesch-Nyhan
• cswiki Leschův–Nyhanův syndrom
• dawiki Lesch-Nyhans syndrom
• dewiki Lesch-Nyhan-Syndrom
• enwiki Lesch–Nyhan syndrome
• eswiki Síndrome de Lesch-Nyhan
• fawiki سندرم لش–نیهان
• fiwiki Lesch–Nyhanin oireyhtymä
• frwiki Syndrome de Lesch-Nyhan
• huwiki Lesch–Nyhan-szindróma
• itwiki Sindrome di Lesch-Nyhan
• jawiki レッシュ・ナイハン症候群
• lbwiki Lesch-Nyhan-Syndrom
• nlwiki Syndroom van Lesch-Nyhan
• plwiki Zespół Lescha-Nyhana
• ptwiki Síndrome de Lesch-Nyhan
• ruwiki Синдром Лёша — Нихена
• svwiki Lesch-Nyhans syndrom
• thwiki กลุ่มอาการเลสช์–ไนแฮน
• viwiki Hội chứng Lesch-Nyhan
• zhwiki 萊希-尼亨症候群

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Other sites(0 entries)

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