Coproporphyria, Hereditary (HCP)

Coproporphyria, Hereditary(来自ICD-11)
别称:
Hereditary Coproporphyria
Coproporphyria
Coproporphyrinogen Oxidase Deficiency
Cpox Deficiency
Cpo Deficiency
Hcp
Porphyria, Hereditary Coproporphyria
Hereditary Coproporphyria Porphyria
Coproporphyria Hereditary
Harderoporphyria
Cpro Deficiency
Cpx Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Coproporphyria, Hereditary, also known as hereditary coproporphyria, is related to photoparoxysmal response 1 and porphyria cutanea tarda, type i. An important gene associated with Coproporphyria, Hereditary is CPOX (Coproporphyrinogen Oxidase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Midazolam and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are abdominal pain and abnormal circulating porphyrin concentration
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参考文献
MALACARDS
AD
Adolescent
--
17
108
68

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