Joseph Foster

Pyruvate Carboxylase Deficiency, also known as pyruvate carboxylase deficiency disease, is related to propionic acidemia and thrombophilia due to protein c deficiency, autosomal recessive, and has symptoms including periodic lactate elevations, clonus and seizures. An important gene associated with Pyruvate Carboxylase Deficiency is PC ...

Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and familial porphyria cutanea tarda, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and ...

Recurrent Respiratory Papillomatosis, also known as juvenile-onset recurrent respiratory papillomatosis, is related to laryngeal papillomatosis and papilloma. The drugs Cidofovir and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include placenta, trachea and lung, and related phenotypes are hoarse ...

Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to thiamine-responsive megaloblastic anemia syndrome and imerslund-grasbeck syndrome 1, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways ...

Nail-Patella Syndrome, also known as turner-kieser syndrome, is related to ehlers-danlos syndrome, classic type, 2 and membranous nephropathy, and has symptoms including arthralgia, metatarsalgia and koilonychia. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related ...