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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Sitosterolemia
Hypoinsulinemic hypoglycemia and body hemihypertrophy

ABCG5 AKT2
ABCG8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCG8
(0.63)
AKT2



Citations in the biomedical literature:


Sitosterolemia
ABCG5 ABCG8
Hypoinsulinemic hypoglycemia and body hemihypertrophy
AKT2



Sitosterolemia
Hypoinsulinemic hypoglycemia and body hemihypertrophy

Synonym(s):
- Phytosterolemia
- Xanthomatosis with sisterolemia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
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 dominant

External references:
1 OMIM reference -
1 MeSH reference: C537345
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.