Protoporphyria, erythropoietic, 1

Preferred Label : Protoporphyria, erythropoietic, 1;

Symbol : EPP1;

CISMeF acronym : EPP; EPP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heme synthetase deficiency; Ferrochelatase deficiency; Erythrohepatic protoporphyria; Protoporphyria, erythropoietic; EPP;

Description : Erythropoietic protoporphyria is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ferrochelatase gene (FECH, 612386.0001);

Laboratory abnormalities : Mild hypertriglyceridemia; Fluorescence of red blood cells by UV microscopy; Excess protoporphyrin in bile and feces but not in urine; Reduced ferrochelatase activity;

Prefixed ID : #177000;

Details

Origin ID

177000;

UMLS CUI

C4692546;

Automatic exact mappings (from CISMeF team)
- Acute multifocal placoid pigment epitheliopathy (disorder) [SNOMED CT concept]
- Ferrochelatase deficiency (disorder) [SNOMED CT concept]
- Hand-Foot syndrome [MeSH Descriptor]
- blood protein electrophoresis [MeSH Descriptor]
- ferrochelatase deficiency [MeSH concept]
- formative assessment [CISMeF resources Type]
Currated CISMeF NLP mapping
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria [ICD-11 More detail]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- erythropoietic protoporphyria [Disease (Nov.)]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [SNOMED Notion]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]
DO Cross reference
- erythropoietic protoporphyria [DO Concept]
Genes related to phenotype
- Ferrochelatase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Cholelithiasis [HPO term]
- Eczema [HPO term]
- Edema [HPO term]
- Erythema [HPO term]
- Hemolytic anemia [HPO term]
- Hepatic failure [HPO term]
- Hypertriglyceridemia [HPO term]
- Mild hypertriglyceridemia [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- erythropoietic protoporphyria [SNOMED Notion]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [Disease (Nov.)]
- protoporphyria, erythropoietic [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH concept]

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