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Hemolytic anemia due to glucophosphate isomerase deficiency
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Well-differentiated liposarcoma
Glycogen storage disease due to muscle beta-enolase deficiency
Triose phosphate-isomerase deficiency
Synonym(s):
(no synonyms)
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 / 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
Gene symbol UniProt reference OMIM reference
GPI P06744172400
No signs/symptoms info available.