WormBase Tree Display for DO_term: DOID:0090106
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| DOID:0090106 | Name | BH4-deficient hyperphenylalaninemia A | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. | ||||
| Synonym | Exact | 6-pyruvoyl-tetrahydropterin synthase deficiency | |||
| HPABH4A | |||||
| PTS deficiency | |||||
| hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency | |||||
| tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0081132 | |||||
| DB_info | Database | OMIM | disease | 261640 | |
| Attribute_of | Gene_by_orthology | WBGene00015010 |
