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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Erythropoietic protoporphyria

2 OMIM references -
2 associated genes
9 signs/symptoms

Pseudohypoaldosteronism type 2E

Erythropoietic protoporphyria

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


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

Citations in the biomedical literature:

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

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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

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

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)