Hawkinsinuria - CISMeF

Preferred Label : Hawkinsinuria;

Symbol : HWKS;

Type : Phenotype, molecular basis known;

Description : Hawkinsinuria is an autosomal dominant inborn error of metabolism (Danks et al., 1975; Tomoeda et al., 2000). Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0005);

Laboratory abnormalities : 4-hydroxyphenylpyruvic acid dioxygenase deficiency (HPD); Hawkinsinuria; Tyrosinemia (transient, resolves in infancy); 4-hydroxyphenylpyruvic aciduria; 4-hydroxyphenylactic aciduria; 4-hydroxyphenylacetic aciduria; 4-hydroxycyclohexylacetic aciduria (adults); Direct hyperbilirubinemia;

Prefixed ID : #140350;

Détails

Origin ID

140350;

UMLS CUI

C2931042;

Automatic exact mappings (from CISMeF team)
- hawkinsinuria [DO Concept]
Currated CISMeF NLP mapping
- 4-hydroxyphenylpyruvate dioxygenase deficiency [SNOMED Notion]
- Hawkinsinuria [ICD-11 More detail]
- Hawkinsinuria [MeSH concept]
- Hawkinsinuria [ORDO Disease]
- Hawkinsinuria (disorder) [SNOMED CT concept]
- hawkinsinuria [MeSH Supplementary Concept]
DO Cross reference
- hawkinsinuria [DO Concept]
Genes related to phenotype
- 4-hydroxyphenylpyruvate dioxygenase [OMIM gene]
HPO term(s)
- 4-Hydroxyphenylpyruvic aciduria [HPO term]
- 4-hydroxyphenylacetic aciduria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypertyrosinemia [HPO term]
- Metabolic acidosis [HPO term]
ORDO concept(s)
- Hawkinsinuria [ORDO Disease]
See also inter- (CISMeF)
- Tyrosinaemia type 3 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hawkinsinuria [ORDO Disease]
- Hawkinsinuria [MeSH concept]
- Hawkinsinuria [ICD-11 More detail]
- Hawkinsinuria (disorder) [SNOMED CT concept]
- hawkinsinuria [MeSH Supplementary Concept]
- hawkinsinuria [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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