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Hemolytic anemia due to red cell pyruvate kinase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hemolytic anemia due to red cell pyruvate kinase deficiency
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

PKLR
(UniProt - OMIM)
 WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PKLR
(0.63)
WWOX


Citations in the biomedical literature:


Hemolytic anemia due to red cell pyruvate kinase deficiency
PKLR
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX



Hemolytic anemia due to red cell pyruvate kinase deficiency
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Synonym(s):
- Pyruvate kinase deficiency of erythrocytes
Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.