homozygous familial hypercholesterolemia
MONDO:0018328Mondo
Findings
No curated finding names homozygous familial hypercholesterolemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
33 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.
- Elevated circulating LDL-C concentrationHPOHP:0003141
- Obligate (100% of cases)
- HypercholesterolemiaHPOHP:0003124
- Obligate (100% of cases)
- HyperlipidemiaHPOHP:0003077
- Obligate (100% of cases)
- Precocious atherosclerosisHPOHP:0004416
- Very frequent (80% to 99% of cases)
- Premature arteriosclerosisHPOHP:0005177
- Very frequent (80% to 99% of cases)
- Abnormal internal carotid artery morphologyHPOHP:3000062
- Frequent (30% to 79% of cases)
- Abnormal left ventricular functionHPOHP:0005162
- Frequent (30% to 79% of cases)
- Abnormal tendon morphologyHPOHP:0100261
- Frequent (30% to 79% of cases)
- Angina pectorisHPOHP:0001681
- Frequent (30% to 79% of cases)
- Aortic atherosclerotic lesionHPOHP:0012397
- Frequent (30% to 79% of cases)
- Cerebral artery atherosclerosisHPOHP:0007201
- Frequent (30% to 79% of cases)
- Coronary artery atherosclerosisHPOHP:0001677
- Frequent (30% to 79% of cases)
Show the remaining 21
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Heart murmurHPOHP:0030148
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Myocardial infarctionHPOHP:0001658
- Frequent (30% to 79% of cases)
- Myocardial steatosisHPOHP:0006693
- Frequent (30% to 79% of cases)
Genes
4 genes
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.
Where it sits
- A kind of
Other names
1 name
Resolves to: homozygous familial hypercholesterolemia
- Also called
- HoFH