FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term BH4-deficient hyperphenylalaninemia D ID (Ontology) DOID:0081131 (Human Disease)
Definition A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.
Also Known As "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency"
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 Genes
 BH4-deficient hyperphenylalaninemia D       1
 for disease ribbon | BH4-deficient hyperphenylalaninemia D       1
 model of | BH4-deficient hyperphenylalaninemia D       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________________________
amino acid metabolic disorder                                  |
 |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia__|
                                                               BH4-deficient hyperphenylalaninemia D  1 rec.
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Is a autosomal recessive disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
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Synonyms
  • "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT
Secondary IDs
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GARD:2843
MIM:264070
ORDO:1578