Hyperphenylalaninemia, BH4-deficient A

Preferred Label : Hyperphenylalaninemia, BH4-deficient A;

NCIt synonyms : HPABH4A; 6-pyruvoyl Tetrahydropterin Synthase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.;

Details

Origin ID

C138171;

UMLS CUI

C0878676;

Currated CISMeF NLP mapping
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]
DO Cross reference
- BH4-deficient hyperphenylalaninemia A [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PTS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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