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Homocystinuria due to cystathionine beta-synthase deficiency

ORPHA:394 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(9)

  • Abnormality of amino acid metabolismHP:0004337
  • ArachnodactylyHP:0001166
  • Dental crowdingHP:0000678
  • Disproportionate tall statureHP:0001519
  • Ectopia lentisHP:0001083
  • HyperhomocystinemiaHP:0002160
  • Intellectual disabilityHP:0001249
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757

Frequent (79-30%)(17)

  • AmblyopiaHP:0000646
  • Arterial thrombosisHP:0004420
  • Arteriovenous malformationHP:0100026
  • Cerebral ischemiaHP:0002637
  • Genu valgumHP:0002857
  • HypertensionHP:0000822
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • Lens subluxationHP:0001132
  • MyopiaHP:0000545
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Pes cavusHP:0001761
  • Pulmonary embolismHP:0002204
  • ScoliosisHP:0002650
  • Sparse scalp hairHP:0002209
  • Venous thrombosisHP:0004936

Occasional (29-5%)(36)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of extrapyramidal motor functionHP:0002071
  • AnorexiaHP:0002039
  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • CataractHP:0000518
  • Cerebral venous sinus thrombosisHP:0033724
  • DepressionHP:0000716
  • DystoniaHP:0001332
  • EEG abnormalityHP:0002353
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Esophageal varixHP:0002040
  • Gastrointestinal hemorrhageHP:0002239
  • GlaucomaHP:0000501
  • Hemiplegia/hemiparesisHP:0004374
  • HepatomegalyHP:0002240
  • HerniaHP:0100790
  • High palateHP:0000218
  • Hypopigmentation of the skinHP:0001010
  • Intracranial hemorrhageHP:0002170
  • Livedo reticularisHP:0033505
  • Malar rashHP:0025300
  • Neurodevelopmental delayHP:0012758
  • Obsessive-compulsive traitHP:0008770
  • Optic atrophyHP:0000648
  • PancreatitisHP:0001733
  • ParkinsonismHP:0001300
  • PsychosisHP:0000709
  • Retinal detachmentHP:0000541
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • Subcutaneous hemorrhageHP:0001933
  • UrticariaHP:0001025