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Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282 · Clinical subtype · Subtype of disorder

HPO 表現型（共 76 項）

Very frequent (99-80%)(6)

  • Elevated circulating palmitoleylcarnitine concentrationHP:0031544
  • HyperhomocystinemiaHP:0002160
  • Intellectual disabilityHP:0001249
  • Megaloblastic anemiaHP:0001889
  • Methylmalonic acidemiaHP:0002912
  • Methylmalonic aciduriaHP:0012120

Frequent (79-30%)(15)

  • Abnormal macular pigmentationHP:0008002
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • GlomerulopathyHP:0100820
  • GlossitisHP:0000206
  • Growth delayHP:0001510
  • Macular pseudocolobomaHP:0001116
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Pigmentary retinopathyHP:0000580
  • Retinal degenerationHP:0000546
  • StomatitisHP:0010280
  • ThrombocytopeniaHP:0001873
  • Visual impairmentHP:0000505

Occasional (29-5%)(39)

  • Abnormal heart morphologyHP:0001627
  • Abnormal speech patternHP:0002167
  • Abnormality of the nervous systemHP:0000707
  • AtaxiaHP:0001251
  • Atrophy of the spinal cordHP:0006827
  • Atypical behaviorHP:0000708
  • Auditory hallucinationHP:0008765
  • Cerebral atrophyHP:0002059
  • Decreased total neutrophil countHP:0001875
  • Deep venous thrombosisHP:0002625
  • DehydrationHP:0001944
  • Dilated cardiomyopathyHP:0001644
  • EncephalopathyHP:0001298
  • Hydrops fetalisHP:0001789
  • HyperammonemiaHP:0001987
  • HypoglycemiaHP:0001943
  • HypomethioninemiaHP:0003658
  • HypothermiaHP:0002045
  • HypotoniaHP:0001252
  • Impaired executive functioningHP:0033051
  • Infantile spasmsHP:0012469
  • Intrauterine growth retardationHP:0001511
  • JaundiceHP:0000952
  • KetonuriaHP:0002919
  • LethargyHP:0001254
  • LeukoencephalopathyHP:0002352
  • Memory impairmentHP:0002354
  • Mental deteriorationHP:0001268
  • Neurodevelopmental delayHP:0012758
  • Peripheral demyelinationHP:0011096
  • Periventricular white matter hyperintensitiesHP:0030891
  • Personality changesHP:0000751
  • Poor fine motor coordinationHP:0007010
  • Pulmonary arterial hypertensionHP:0002092
  • Renal insufficiencyHP:0000083
  • Respiratory distressHP:0002098
  • SeizureHP:0001250
  • Subdural hemorrhageHP:0100309
  • ThromboembolismHP:0001907

Very rare (<4-1%)(16)

  • Abnormal brain morphologyHP:0012443
  • Abnormal facial shapeHP:0001999
  • DeliriumHP:0031258
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • Hemolytic-uremic syndromeHP:0005575
  • High foreheadHP:0000348
  • HydrocephalusHP:0000238
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • Metabolic acidosisHP:0001942
  • PsychosisHP:0000709
  • Pulmonary embolismHP:0002204
  • Severe demyelination of the white matterHP:0007258
  • Smooth philtrumHP:0000319
  • StrokeHP:0001297