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Succinyl-CoA:3-ketoacid CoA transferase deficiency
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Leber congenital amaurosis
Senior-Loken syndrome
Autosomal dominant spastic paraplegia type 13
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Enchondromatosis
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Gliosarcoma
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Maffucci syndrome
Metachondromatosis
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Noonan syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Progressive non-fluent aphasia
Semantic dementia
Well-differentiated liposarcoma
AICA-ribosiduria
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis
Fatal infantile lactic acidosis with methylmalonic aciduria
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hereditary pheochromocytoma-paraganglioma
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Sanfilippo syndrome type A
Treacher-Collins syndrome
X-linked myopathy with excessive autophagy
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 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
OXCT1 P55809601424
No signs/symptoms info available.