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Erythropoietic protoporphyria

2 OMIM references -
2 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Pseudohypoaldosteronism type 2E

1 OMIM reference -
1 associated gene
No signs/symptoms info

Erythropoietic protoporphyria

Pseudohypoaldosteronism type 2E

ALAS2	(UniProt - OMIM)		CUL3	(UniProt - OMIM)
FECH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FECH	(0.63)	CUL3

Citations in the biomedical literature:

Erythropoietic protoporphyria		Pseudohypoaldosteronism type 2E
	Synonym(s): - EPP - XLDPP		Synonym(s): - PHA2E

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the circulatory system -

	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: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: D046351		External references: 1 OMIM reference - No MeSH references

Erythropoietic protoporphyria
	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
Pseudohypoaldosteronism type 2E
(no data available)