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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Sanfilippo syndrome type A
Succinyl-CoA:3-ketoacid CoA transferase deficiency

SGSH OXCT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SGSH
(0.49)
OXCT1



Citations in the biomedical literature:


Sanfilippo syndrome type A
SGSH
Succinyl-CoA:3-ketoacid CoA transferase deficiency
OXCT1



Sanfilippo syndrome type A
Succinyl-CoA:3-ketoacid CoA transferase deficiency

Synonym(s):
- Heparan sulfamidase deficiency
- Mucopolysaccharidosis type 3A

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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: 1-9 / 1 000 000
Average age onset: -
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

No signs/symptoms info available.