Disease-gene associations mined from literature

Human genes for porphyria

Porphyria [DOID:13268]

The porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They manifest with either neurological complications ("acute") or skin problems ("cutaneous"), or occasionally both. The porphyrias may be classified by the primary site of the overproduction and accumulation of the porphyrins (or their chemical precursors) as hepatic porphyrias, where porphyrins are overproduced in the liver predominantly, or erythropoietic porphyrias, where the overproduction is confined to the bone marrow and the erythrocye (red blood cell) and its precursors.

Synonyms:  porphyria,  DOID:13268,  Hematoporphyria,  Porphyria (disorder),  Porphyria NOS (disorder) ...