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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
Ketoacidosis due to beta-ketothiolase deficiency
Isolated growth hormone deficiency type II

ACAT1 GH1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACAT1
(0.63)
GH1



Citations in the biomedical literature:


Ketoacidosis due to beta-ketothiolase deficiency
ACAT1
Isolated growth hormone deficiency type II
GH1



Ketoacidosis due to beta-ketothiolase deficiency
Isolated growth hormone deficiency type II

Synonym(s):
- Alpha-methyl-acetoacetyl-CoA thiolase deficiency

Synonym(s):
- Congenital IGHD type II
- Congenital isolated GH deficiency type II
- Congenital isolated growth hormone deficiency type II

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

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

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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.