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Inherited porphyria

MONDO:0019142

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.

Also known as: disorder of porphyrin and heme metabolism, disorder of porphyrin metabolism, porphyria, hereditary porphyria, Hematoporphyria, Porphyrinopathy

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

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Sub-types

Erythropoietic protoporphyria (13) X-linked erythropoietic protoporphyria (9) Hereditary coproporphyria (5) Acute intermittent porphyria (4) Cutaneous porphyria (2) Protoporphyria, erythropoietic, 1 (2) Variegate porphyria (2) Autosomal erythropoietic protoporphyria (0) Chester porphyria (0) CPOX-related hereditary coproporphyria (0) Encephalopathy, porphyria-related (0) Erythropoietic uroporphyria associated with myeloid malignancy (0) Familial porphyria cutanea tarda (0) Harderoporphyria (0) Hepatoerythropoietic porphyria (0) HMBS-related hepatic porphyria (0) Leukoencephalopathy, porphyria-related (0) Porphyria, acute intermittent, nonerythroid variant (0) Porphyria due to ALA dehydratase deficiency (0) PPOX-related hepatic porphyria (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! 24 Not yet recruiting 4 Not yet finished but already full! 9 Completed 13 Terminated 1
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