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Hemolytic anemia due to red cell pyruvate kinase deficiency
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital dyserythropoietic anemia type III
X-linked non-syndromic intellectual deficit
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Congenital glaucoma
Estrogen resistance syndrome
Juvenile glaucoma
Synonym(s):
- Pyruvate kinase deficiency of erythrocytes
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PKLR P30613609712
No signs/symptoms info available.