Table 2.

Disorders associated to mutations in genes involved in heme metabolism.

Disease name	Omim	Genetic defect	Disease features
X-linked erythropoietic protoporphyria (XLEPP)	300752	ALAS2	Erythropoietic Porphyria: immediate photosensitivity; secondary liver disease; microcytic anemia
Alad-deficiency porphyria (ADP)	612740	ALAD	Hepatic Porphyria: acute neurological attacks; abdominal pain
Acute intermittent porphyria (AIP)	176000	HMBS	Hepatic Porphyria: acute neurological attacks
Congenital erythropoietic protoporphyria (CEP)	263700	UROS	Erythropoietic Porphyria: photosensitivity; hemolytic anemia
Porphyria cutaneous tarda (PCT)	176100	UROD	Hepatic Porphyria: photosensitivity; blisterin skin lesions; liver disease
Hereditary coproporphyria (HCP)	121300	CPOX	Hepatic Porphyria: acute neurological attacks; abdominal pain; vesiculoerosive skin disease photosensitivity
Porphyria variegate (VP)	176200	PPOX	Hepatic Porphyria: acute neurological attacks; abdominal pain; vesiculoerosive skin disease; neurovisceral symptoms photosensitivity
Erythropoietic protoporphyria (EPP)	177000	FECH	Erythropoietic Porphyria: photosensitivity; secondary liver disease; microcytic anemia
X-linked sideroblastic anemia (XLSA)	300751	ALAS2	Microcytic anemia with ringed sideroblasts
Human HO-1 Deficiency	614034	HO1	Hemolytic anemia, asplenia, renal and hepatic iron deposition, endothelial dysfunction/vasculitis
Posterior column ataxia and retinitis pigmentosa (PCARP)	609033	FLVCR1	Sensory ataxia; Retinitis Pigmentosa
Hyperuricaemia and Gout	138900	ABCG2	Metabolism disorder, local immune-mediated inflammatory reaction
Fowler syndrome (FS)	225790	FLVCR2	Cerebral glomeruloid vasculopathy; limb deformities
Hereditary Folate Malabsorption syndrome (HFM)	229050	HCP1/PCFT	Systemic and cerebrospinal folate deficiency; anemia; pancytopenia; hypoimmunoglobulinemia; developmental delay; cognitive impairment; epilepsy