Inherited porphyria

rare

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

Identifiers: MONDO:0019142 Orphanet:738
Part of: Hereditary photodermatosis Inborn disorder of porphyrin metabolism Porphyria
Also known as: hereditary porphyria

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
HMBS-related hepatic porphyria	MONDO:0700382	4	HMBS
Erythropoietic protoporphyria	MONDO:0001676	4
CPOX-related hereditary coproporphyria	MONDO:0800180	2
PPOX-related hepatic porphyria	MONDO:0700383	2	PPOX
UROD-related inherited porphyria	MONDO:0100498	2	UROD
Chester porphyria	MONDO:0022714
Cutaneous porphyria	MONDO:0009902		UROS
Erythropoietic uroporphyria associated with myeloid malignancy	MONDO:0017231
Porphyria due to ALA dehydratase deficiency	MONDO:0013000		ALAD

Rare disease

Projects

Including projects on subtypes.

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