Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Hemolytic anemia due to glucophosphate isomerase deficiency
Triose phosphate-isomerase deficiency

GPI TPI1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GPI
(0.49)
TPI1



Citations in the biomedical literature:


Hemolytic anemia due to glucophosphate isomerase deficiency
GPI
Triose phosphate-isomerase deficiency
TPI1



Hemolytic anemia due to glucophosphate isomerase deficiency
Triose phosphate-isomerase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic 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: neonatal/infancy
Average age of death: -
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

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


Hemolytic anemia due to glucophosphate isomerase deficiency

(no data available)