loading...| Preferred Name |
Sitosterolemia |
| Synonyms |
Macrothrombocytopenia-Stomatocytosis, Mediterranean |
| ID |
http://purl.bioontology.org/ontology/MESH/C537345 |
| altLabel |
Macrothrombocytopenia-Stomatocytosis, Mediterranean Phytosterolemia Pseudohomozygous familial hypercholesterolemia Plant sterol storage disease |
| cui |
C2749759 C0342907 |
| Has mapping qualifier | |
| HM |
D007410 D010840/Q000009 D008052 D006937 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D010840 http://purl.bioontology.org/ontology/MESH/D006937 |
| MDA |
20100825 |
| MeSH Frequency |
58 |
| MMR |
20151112 |
| notation |
C537345 |
| prefLabel |
Sitosterolemia |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250 |
| TERMUI |
T742275 T742279 T742277 T742278 T000889873 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T019 T047 |