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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
2 associated genes
No signs/symptoms info
Hemolytic anemia due to red cell pyruvate kinase deficiency
Juvenile glaucoma

PKLR CYP1B1
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PKLR
(0.63)
MYOC



Citations in the biomedical literature:


Hemolytic anemia due to red cell pyruvate kinase deficiency
PKLR
Juvenile glaucoma
CYP1B1 MYOC



Hemolytic anemia due to red cell pyruvate kinase deficiency
Juvenile glaucoma

Synonym(s):
- Pyruvate kinase deficiency of erythrocytes

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

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
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
No MeSH references

No signs/symptoms info available.