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Sitosterolemia
1 OMIM reference -
2 associated genes
7 connected diseases
No signs/symptoms info
Disease Type of connection
Adult-onset autosomal dominant leukodystrophy
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Berardinelli-Seip congenital lipodystrophy
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
SHORT syndrome
Synonym(s):
- Phytosterolemia
- Xanthomatosis with sisterolemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537345
Gene symbol UniProt reference OMIM reference
ABCG5 Q9H222605459
ABCG8 Q9H221605460
No signs/symptoms info available.