Protoporphyria, Erythropoietic, X-Linked (XLEPP)

Alias:

X-Linked Erythropoietic Protoporphyria

Protoporphyria, Erythropoietic, X-Linked Dominant

Xldpp

Erythropoietic Protoporphyria, X-Linked Dominant

X-Linked Dominant Erythropoietic Protoporphyria

Erythrohepatic Protoporphyria, X-Linked

X-Linked Dominant Protoporphyria

Xlepp

Xldpt

Xlpp

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Protoporphyria, Erythropoietic, X-Linked, also known as x-linked erythropoietic protoporphyria, is related to photoparoxysmal response 1 and porphyria. An important gene associated with Protoporphyria, Erythropoietic, X-Linked is ALAS2 (5'-Aminolevulinate Synthase 2). The drugs Isoniazid and Aminolevulinic acid have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are elevated hepatic transaminase and cholelithiasis

Related ID：

MALACARDS：PRT094

OMIM：300752

MESH：D046351