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Ketoacidosis due to beta-ketothiolase deficiency
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Primary hyperoxaluria type 1
Pseudohypoaldosteronism type 2E
Refsum disease
Rhizomelic chondrodysplasia punctata type 1
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal dominant macrothrombocytopenia
Infantile cerebellar-retinal degeneration
Isolated CoQ-cytochrome C reductase deficiency
Synonym(s):
- Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ACAT1 P24752607809
No signs/symptoms info available.