sitosterolemia
http://purl.obolibrary.org/obo/MONDO_0008863
A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. [ Orphanet:2882 ]
Term info
- Orphanet:101022 (OMIM:210250)
- Orphanet:2882 (OMIM:210250)
- UMLS:C0342907 (Orphanet:2882/e)
- GARD:0007653 (MONDO:equivalentTo)
- OMIMPS:210250 (MONDO:equivalentTo)
- NCIT:C125694 (MONDO:equivalentTo)
- SCTID:238104009 (MONDO:equivalentTo)
- MedDRA:10063985 (Orphanet:2882/e)
- MESH:C537345 (Orphanet:2882/e)
- DOID:0090019 (MONDO:equivalentTo)
- OMIMPS:215250 (MONDO:equivalentObsolete)
gard_rare, ordo_disease
http://identifiers.org/meddra/10063985
A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
http://identifiers.org/snomedct/238104009, http://purl.obolibrary.org/obo/Orphanet_2882, http://purl.obolibrary.org/obo/DOID_0090019, http://linkedlifedata.com/resource/umls/id/C0342907, http://identifiers.org/mesh/C537345, http://purl.obolibrary.org/obo/NCIT_C125694, https://omim.org/phenotypicSeries/PS210250
phytosterolemia, sitosterolemia
macrothrombocytopenia/stomatocytosis, Mediterranean, retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body, plant sterol storage disease, STSL
MONDO:0008863
https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia