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Erythropoietic protoporphyria

2 OMIM references -
2 associated genes
9 signs/symptoms

COMMON GENES: 1

X-linked sideroblastic anemia

1 OMIM reference -
1 associated gene
10 signs/symptoms

Erythropoietic protoporphyria

X-linked sideroblastic anemia

ALAS2	(UniProt - OMIM)		ALAS2	(UniProt - OMIM)
FECH	(UniProt - OMIM)


COMMON GENES	ALAS2

Citations in the biomedical literature:

Erythropoietic protoporphyria		X-linked sideroblastic anemia
	Synonym(s): - EPP - XLDPP		Synonym(s): - XLSA

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: x-linked recessive

	External references: 2 OMIM references - 1 MeSH reference: D046351		External references: 1 OMIM reference - 1 MeSH reference: C536761

Erythropoietic protoporphyria		X-linked sideroblastic anemia
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Skin photosensitivity - Urticaria Occasional - Biliary / gallbladder stones / lithiasis / cholecystitis - Cirrhosis - Cutaneous edema - Eczema - Microcytic anemia		Very frequent - Anaemia - Red cell disorders - Red cell structure / shape anomalies - X-linked recessive inheritance Occasional - Insulin-independent / type 2 diabetes - Irregular / in bands / reticular skin hyperpigmentation - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Storage liver disease - Structural and functional anomalies of the spleen - Structural anomalies of the cardio-circulatory system