Hyperphenylalaninemia, Bh4-Deficient, a malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Bone diseases
Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, a:
Orphanet epidemiological data:51
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age
hyperphenylalaninemia, bh4-deficient, a:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Bone diseases
OMIM:49 Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of... (261640) more...
MalaCards based summary: Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to hepatitis and breast cancer, and has symptoms including muscular hypotonia of the trunk, intellectual disability, progressive and hyperphenylalaninemia. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase). Affiliated tissues include bone.
UniProtKB/Swiss-Prot:67 Hyperphenylalaninemia, BH4-deficient, A: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet.
HPO human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, a:(show all 22)
Interventional clinical trials:
Search NIH Clinical Center for Hyperphenylalaninemia, Bh4-Deficient, a
MalaCards organs/tissues related to Hyperphenylalaninemia, Bh4-Deficient, a:33
UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, a:67 (show all 24)
Clinvar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, a:5
Search GEO for disease gene expression data for Hyperphenylalaninemia, Bh4-Deficient, a.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet