Autosomal erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000989 Pruritus Very frequent (99-80%)
HP:0000992 Cutaneous photosensitivity Very frequent (99-80%)
HP:0010472 Abnormal circulating porphyrin concentration Very frequent (99-80%)
HP:0010783 Erythema Very frequent (99-80%)
HP:0000964 Eczema Occasional (29-5%)
HP:0000969 Edema Occasional (29-5%)
HP:0001081 Cholelithiasis Occasional (29-5%)
HP:0001394 Cirrhosis Occasional (29-5%)
HP:0001410 Decreased liver function Occasional (29-5%)
HP:0001935 Microcytic anemia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FECH ferrochelatase 2235