Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Succinyl-CoA:3-ketoacid CoA transferase deficiency

HSPD1 OXCT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
OXCT1



Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Succinyl-CoA:3-ketoacid CoA transferase deficiency
OXCT1



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Succinyl-CoA:3-ketoacid CoA transferase deficiency

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Synonym(s):
- OXCT1 deficiency
- SCOT deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Succinyl-CoA:3-oxoacid CoA transferase deficiency

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
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.