Paroxysmal Nocturnal Hemoglobinuria (PNH)

Alias:
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
Related Drugs
Disease Model
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
Related ID:
MESH:D006457
ICD11:859588467

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
All ages
1-9/1000000
27
450
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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