Sitosterolemia
Synonyms: Sisterolemia · Phytosterolemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Sitosterolemia is 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 <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sitosterolemia | Sisterolemia · Phytosterolemia |
| fr | Sitostérolémie | Phytostérolémie |
| de | Sitosterolämie | Phytosterolämie |
| es | Sitosterolemia | Fitosterolemia |
| it | Sitosterolemia | Fitosterolemia · Sisterolemia |
| nl | Sitosterolemie | Fytosterolemie |
| pt | Fitoesterolemia | Sitoesterolemia |
| pl | Sitosterolemia | Fitosterolemia · Ksantomatoza z sitosterolemią · Fitosterolemia |
| cs | Sitosterolemie | Fytosterolemie · Xantomatóza se sitosterolemii |
| uk | Ситостеролемія | Фітостеролемія |
| zh | 谷固醇血症 | 植物固醇血症 |
| tr | Sitosterolemi | Fitosterolemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210250 | E | validated | |
| OMIM | 618666 | BTNT | validated | |
| ICD-10 | E78.0 | NTBT | attributed | validated |
| ICD-11 | 5C52.1Y | NTBT | index | validated |
| MONDO | 0008863 | E | validated | |
| MeSH | C537345 | E | validated | |
| UMLS | C0342907 | E | validated | |
| GARD | 7653 | E | validated | |
| MedDRA | 10063985 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:181437Rare syndromic dyslipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:101022Mediterranean macrothrombocytopenia moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCG5 | Disease-causing germline mutation(s) in | Assessed | HGNC:13886 | ENSG00000138075 | 605459 | 2p21 | ATP binding cassette subfamily G member 5 | 11138003[PMID]_23556150[PMID] |
| ABCG8 | Disease-causing germline mutation(s) in | Assessed | HGNC:13887 | ENSG00000143921 | 605460 | 2p21 | ATP binding cassette subfamily G member 8 | 11099417[PMID]_23556150[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 18441155[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18441155[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2024-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0033341 | Elevated circulating sitosterol concentration | |
| HP:0001902 | Giant platelets | |
| HP:0001878 | Hemolytic anemia | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0040185 | Macrothrombocytopenia | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0001744 | Splenomegaly | |
| HP:0004446 | Stomatocytosis | |
| HP:0000991 | Xanthomatosis | |
| Occasional (29-5%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0005059 | Arthralgia/arthritis | |
Annotation source: 27809447[PMID]_23556150[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2882
- This record as JSON: /data/d/2882.json