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Homozygous familial hypercholesterolemia

ORPHA:391665 · Disease · Disorder

HPO 表現型（共 33 項）

Obligate (100%)(3)

  • Elevated circulating LDL-C concentrationHP:0003141
  • HypercholesterolemiaHP:0003124
  • HyperlipidemiaHP:0003077

Very frequent (99-80%)(2)

  • Precocious atherosclerosisHP:0004416
  • Premature arteriosclerosisHP:0005177

Frequent (79-30%)(17)

  • Abnormal internal carotid artery morphologyHP:3000062
  • Abnormal left ventricular functionHP:0005162
  • Abnormal tendon morphologyHP:0100261
  • Angina pectorisHP:0001681
  • Aortic atherosclerotic lesionHP:0012397
  • Cerebral artery atherosclerosisHP:0007201
  • Coronary artery atherosclerosisHP:0001677
  • DyspneaHP:0002094
  • Heart murmurHP:0030148
  • Hepatic steatosisHP:0001397
  • HypertensionHP:0000822
  • Myocardial infarctionHP:0001658
  • Myocardial steatosisHP:0006693
  • Peripheral arterial stenosisHP:0004950
  • Premature coronary artery atherosclerosisHP:0005181
  • Renal artery stenosisHP:0001920
  • Sudden cardiac deathHP:0001645

Occasional (29-5%)(7)

  • ArthralgiaHP:0002829
  • Calcification of the aortaHP:0004963
  • Mitral regurgitationHP:0001653
  • Renal steatosisHP:0000799
  • Supravalvular aortic stenosisHP:0004381
  • Tendon xanthomatosisHP:0010874
  • XanthomatosisHP:0000991

Very rare (<4-1%)(4)

  • Abnormal eye physiologyHP:0012373
  • Abnormal nervous system physiologyHP:0012638
  • Coronary artery aneurysmHP:0030882
  • Optic neuropathyHP:0001138