Pyruvate Kinase Deficiency of Red Cells (PKRD)

Alias:
Pyruvate Kinase Deficiency
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency
Pk Deficiency
Pyruvate Kinase Deficiency of Erythrocyte
Pyruvate Kinase Deficiency of Erythrocytes
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency
Anemia, Hemolytic, Congenital Nonspherocytic
Pyruvate Kinase-Deficient Hemolytic Anemia
Red Cell Pyruvate Kinase Deficiency
Deficiency of Pyruvate Kinase
Hnsha
Pkrd
Pkd
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pyruvate Kinase Deficiency of Red Cells, also known as pyruvate kinase deficiency, is related to bilirubin metabolic disorder and neonatal jaundice, and has symptoms including icterus An important gene associated with Pyruvate Kinase Deficiency of Red Cells is PKLR (Pyruvate Kinase L/R), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Collagen chain trimerization. The drugs Mitapivat and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include spleen and skin, and related phenotypes are splenomegaly and anemia
Related ID:
MESH:C564858
ICD11:1055568225

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
14
112
83

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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top