hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
MONDO:0016203Mondo
Findings
No curated finding names hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute hepatic steatosisHPOHP:0006573
- Very frequent (80% to 99% of cases)
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Cholesterol gallstonesHPOHP:0011980
- Very frequent (80% to 99% of cases)
- Elevated circulating LDL-C concentrationHPOHP:0003141
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- Very frequent (80% to 99% of cases)
- HepatitisHPOHP:0012115
- Very frequent (80% to 99% of cases)
- HypercholesterolemiaHPOHP:0003124
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Macrovesicular hepatic steatosisHPOHP:0001403
- Very frequent (80% to 99% of cases)
- Abnormal circulating vitamin A concentrationHPOHP:0008372
- Frequent (30% to 79% of cases)
- Abnormal circulating vitamin E concentrationHPOHP:0100514
- Frequent (30% to 79% of cases)
- Accelerated atherosclerosisHPOHP:0004943
- Frequent (30% to 79% of cases)
Show the remaining 3
- Aortic atherosclerotic lesionHPOHP:0012397
- Frequent (30% to 79% of cases)
- Coronary artery atherosclerosisHPOHP:0001677
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP7A1HGNC:2651
- Supportive · Orphanet · Semidominant · 2021