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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Fibronectin glomerulopathy
Hereditary nonpolyposis colon cancer
Leber congenital amaurosis
Senior-Loken syndrome
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Triose phosphate-isomerase deficiency
Glycogen storage disease due to aldolase A deficiency
Isolated ATP synthase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Synonym(s):
- GSD due to phosphoglycerate kinase 1 deficiency
- Glycogenosis due to phosphoglycerate kinase 1 deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic 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: variable
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PGK1 P00558311800
No signs/symptoms info available.