Bh4-Deficient Hyperphenylalaninemia C
Disease ID: disease_node_20528
Connections displayed (default: 10).
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| Dbxref | MIM:261630 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081132 |
| Data Source | DOID |
| Synonyms | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency |
| Doid Label | BH4-deficient hyperphenylalaninemia C |
| Doid Description | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20528 |
| Doid Id | DOID_0081130 |
| Label | Bh4-Deficient Hyperphenylalaninemia C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia(ID:disease_node_20525) (Disease)