Cytoscape Web
Click node...

Succinyl-CoA:3-ketoacid CoA transferase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary pheochromocytoma-paraganglioma
6 OMIM references -
7 associated genes
No signs/symptoms info
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Hereditary pheochromocytoma-paraganglioma

OXCT1
(UniProt - OMIM)
 MAX
(UniProt - OMIM)
SDHA
(UniProt - OMIM)
SDHAF2
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)
TMEM127
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
OXCT1
(0.49)
SDHAF2


Citations in the biomedical literature:


Succinyl-CoA:3-ketoacid CoA transferase deficiency
OXCT1
Hereditary pheochromocytoma-paraganglioma
MAX SDHA SDHAF2 SDHB SDHC SDHD
TMEM127



Succinyl-CoA:3-ketoacid CoA transferase deficiency
Hereditary pheochromocytoma-paraganglioma

Synonym(s):
- OXCT1 deficiency
- SCOT deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Succinyl-CoA:3-oxoacid CoA transferase deficiency
Synonym(s):
- Familial pheochromocytoma-paraganglioma
- SDHx-related paraganglioma-pheochromocytoma
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
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: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
No MeSH references
No signs/symptoms info available.