X-Linked Protoporphyria

Preferred Label : X-Linked Protoporphyria;

NCIt synonyms : XLP; XLDPP;

NCIt definition : An X-linked dominant porphyria caused by gain of function mutations in the ALAS2 gene, encoding 5'-aminolevulinate synthase 2 (5-aminolevulinate synthase, erythroid-specific, mitochondrial), which lead to overproduction of protoporphyrin and its accumulation in the blood, liver, and skin. Excess protoporphyrin in the blood may lead to iron deficient anemia, while accumulation in the liver may contribute to the formation of gallstones and subsequent obstruction of the bile ducts. Exposure to sunlight activates protoporphyrin in the skin, leading to severe pain, burning, and itching.;

NCI Metathesaurus CUI : CL1406866;

Details

Origin ID

C172807;

UMLS CUI

C2677889;

Automatic exact mappings (from CISMeF team)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative disease [ORDO Disease]
Currated CISMeF NLP mapping
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
- Protoporphyria, erythropoietic, X-linked [OMIM Phenotype]
- 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]
See also inter- (CISMeF)
- SH2 domain containing 1A [ORDO Gene]
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]
- Protoporphyria, erythropoietic, X-linked [OMIM Phenotype]
- 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]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_mapped_to_gene
- ALAS2 Gene [NCIt concept]

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