Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal Nocturnal Hemoglobinuria(来自ICD-11)
别称:
Marchiafava-Micheli Disease
Pnh
Marchiafava-Micheli Syndrome
Hemoglobinuria, Paroxysmal
Nocturnal Paroxysmal Haemoglobinaemia
Paroxysmal Hemoglobinuria Nocturnal
Nocturnal Paroxysmal Haematuria
Nocturnal Haemoglobinuria
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Paroxysmal Nocturnal Hemoglobinuria, also known as marchiafava-micheli disease, is related to hemolytic anemia and hemoglobinuria. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Innate Immune System and PAK Pathway. The drugs Benzocaine and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spinal cord, and related phenotypes are abnormal erythrocyte enzyme level and anemia
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相关ID:
MESH:D006457
ICD11:859588467

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参考文献
MALACARDS
--
All ages
1-9/1000000
27
448
8

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