Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Semi-dominant
- Age of onset
- Adult
- Status
- active
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | |
| fr | Hypercholestérolémie par déficit en cholesterol 7alpha-hydroxylase | |
| de | Hypercholesterinämie durch Cholesterol 7-alpha-Hydroxylase-Mangel | |
| es | Hipercolesterolemia por deficiencia de colesterol 7-alfa-hidroxilasa | |
| it | Ipercolesterolemia da deficit di colesterolo 7alfa-idrossilasi | |
| nl | Hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase | |
| pt | Hipercolesterolemia por deficiência da colesterol 7alfa-hidroxilase | |
| pl | Hipercholesterolemia z powodu niedoboru 7alfa-hydroksylazy cholesterolu | |
| cs | Hypercholesterolémie způsobená deficitem cholesterol 7alfa-hydroxylázy | |
| uk | Гіперхолестеринемія внаслідок дефіциту холестерол 7-альфа-гідроксилази | |
| zh | 胆固醇7α-羟化酶缺陷所致高胆固醇血症 | |
| tr | Kolesterol 7 alfa-hidroksilaz eksikliğine bağlı hiperkolesterolemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E78.0 | NTBT | attributed | validated |
| ICD-11 | 5C80.00 | NTBT | attributed | validated |
| MONDO | 0016203 | E | validated | |
| UMLS | C4751204 | 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 (2):
- ORPHA:79168Disorder of bile acid synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:477811Rare hypercholesterolemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP7A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2651 | ENSG00000167910 | 118455 | 8q12.1 | cytochrome P450 family 7 subfamily A member 1 | 12093894[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
15 annotations · validated 2016-03-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006573 | Acute hepatic steatosis | |
| HP:0001396 | Cholestasis | |
| HP:0011980 | Cholesterol gallstones | |
| HP:0001397 | Hepatic steatosis | |
| HP:0012115 | Hepatitis | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0001403 | Macrovesicular hepatic steatosis | |
| Frequent (79-30%) | ||
| HP:0008372 | Abnormality of vitamin A metabolism | |
| HP:0100514 | Abnormality of vitamin E metabolism | |
| HP:0004943 | Accelerated atherosclerosis | |
| HP:0012397 | Aortic atherosclerosis | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0001513 | Obesity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 11967256[PMID]_2384150[PMID]_12093894[PMID]_12093884[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209902
- This record as JSON: /data/d/209902.json