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hereditary coproporphyria

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
Uniprot Description A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces.
Mondo Term and Equivalent IDs
MONDO:0007369:  hereditary coproporphyria
GARD:0006619: 
MESH:D046349: 
NCIT:C84759: 
Orphanet:79273: 
SCTID:7425008: 
UMLS:C0162531: