Lesch-nyhan syndrome

Preferred Label : Lesch-nyhan syndrome;

Symbol : LNS;

CISMeF acronym : LNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypoxanthine guanine phosphoribosyltransferase 1 deficiency; Hprt1 deficiency; Hprt deficiency; Hprt deficiency, complete;

Included titles and symbols : Hprt deficiency, neurologic variant; Lesch-nyhan syndrome, neurologic variant;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0004);

Laboratory abnormalities : Hyperuricemia; Hyperuricosuria;

Prefixed ID : #300322;

Détails

Origin ID

300322;

UMLS CUI

C0023374;

Automatic exact mappings (from CISMeF team)
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [ORDO Disease]
- Lesch-Nyhan syndrome, neurologic variant [MeSH Supplementary Concept]
- Lesch-Nyhan syndrome, neurologic variant [MeSH concept]
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan Syndrome [NCIt concept]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [MedDRA LLT]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
- lesch-nyhan syndrome [SNOMED Notion]
DO Cross reference
- Lesch-Nyhan syndrome [DO Concept]
False automatic mappings
- Breast Lobular Neoplasia [NCIt concept]
Genes related to phenotype
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Choreoathetosis [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hyperuricemia [HPO term]
- Hyperuricosuria [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Megaloblastic anemia [HPO term]
- Motor delay [HPO term]
- Nephrolithiasis [HPO term]
- Opisthotonus [HPO term]
- Podagra [HPO term]
- Self-injurious behavior [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Spasticity, hyperreflexia [HPO term]
- Testicular atrophy [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Lesch-Nyhan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of hypoxanthine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- HGPRT deficiency [MedDRA LLT]
- Hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [ORDO Disease]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [Vue CIM-11]
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan Syndrome [NCIt concept]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [MedDRA LLT]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
- Total hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- hypoxanthine-guanine phosphoribosyltransferase deficiency, nos [SNOMED Notion]
- lesch-nyhan syndrome [SNOMED Notion]
- x-linked hyperuricemia [SNOMED Notion]

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