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CPOX-related hereditary coproporphyria

MONDO:0800180

A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin.

Also known as: CPOX-related hepatic porphyria

37 clinical trials for this condition and its sub-types.

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Sub-types

Hereditary coproporphyria (5) Harderoporphyria (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Skin disorder (123) Inborn errors of metabolism (42) Human disease (14) Porphyria (8) Hereditary skin disorder (5) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 6 Completed 7 Terminated 1
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