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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Triose phosphate-isomerase deficiency

PGK1 TPI1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PGK1
(0.56)
TPI1



Citations in the biomedical literature:


Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
PGK1
Triose phosphate-isomerase deficiency
TPI1



Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Triose phosphate-isomerase deficiency

Synonym(s):
- GSD due to phosphoglycerate kinase 1 deficiency
- Glycogenosis due to phosphoglycerate kinase 1 deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
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 -
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
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

Triose phosphate-isomerase deficiency

Very frequent
- Autosomal recessive inheritance
- Functional anomalies of the nervous system
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Frequent
- Diaphragmatic hernia / defect / agenesis
- Stillbirth / neonatal death

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Nerve conduction abnormality


Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

(no data available)