Protoporphyria, erythropoietic, X-linked

Preferred Label : Protoporphyria, erythropoietic, X-linked;

Symbol : XLEPP;

CISMeF acronym : XLDPP; XLEPP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Erythrohepatic protoporphyria, X-linked; Protoporphyria, erythropoietic, X-linked dominant; XLDPP;

Description : X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013). For a phenotypic description of erythropoietic protoporphyria, see 177000.;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, 301300.0015);

Prefixed ID : #300752;

Details

Origin ID

300752;

UMLS CUI

C2677889;

Automatic exact mappings (from CISMeF team)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
Broader ORDO disease(s)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
Currated CISMeF NLP mapping
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
- X-Linked Protoporphyria [NCIt concept]
- X-linked dominant erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- X-linked erythropoietic protoporphyria [ORDO Disease]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH concept]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]
DO Cross reference
- erythropoietic protoporphyria [DO Concept]
Genes related to phenotype
- Delta-aminolevulinate synthase 2 [OMIM gene]
HPO term(s)
- Childhood onset [HPO term]
- Cholelithiasis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Elevated hepatic transaminase [HPO term]
- Increased erythrocyte protoporphyrin concentration [HPO term]
- Iron deficiency anemia [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked erythropoietic protoporphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
- X-Linked Protoporphyria [NCIt concept]
- X-linked dominant erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- X-linked erythropoietic protoporphyria [ORDO Disease]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH concept]

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