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GM1 gangliosidosis

ORPHA:354 · Disease · Disorder

HPO 表現型（共 90 項）

Very frequent (99-80%)(17)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • ArthralgiaHP:0002829
  • Brain imaging abnormalityHP:0410263
  • Coarse facial featuresHP:0000280
  • Coarse metaphyseal trabecularizationHP:0100670
  • Decreased beta-galactosidase activityHP:0008166
  • Depressed nasal ridgeHP:0000457
  • Ganglioside accumulationHP:0004345
  • HyperreflexiaHP:0001347
  • Infectious encephalitisHP:0002383
  • Morphological central nervous system abnormalityHP:0002011
  • NystagmusHP:0000639
  • SplenomegalyHP:0001744
  • Weight lossHP:0001824

Frequent (79-30%)(33)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal heart morphologyHP:0001627
  • Abnormal speech patternHP:0002167
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Abnormality of movementHP:0100022
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the skinHP:0000951
  • AtaxiaHP:0001251
  • Camptodactyly of fingerHP:0100490
  • Cognitive impairmentHP:0100543
  • Developmental regressionHP:0002376
  • Failure to thriveHP:0001508
  • Gait disturbanceHP:0001288
  • Generalized dystoniaHP:0007325
  • Generalized hirsutismHP:0002230
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • HepatosplenomegalyHP:0001433
  • HyperlordosisHP:0003307
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • Joint stiffnessHP:0001387
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • SpasticityHP:0001257
  • StrabismusHP:0000486
  • Thickened skinHP:0001072
  • TremorHP:0001337
  • Unsteady gaitHP:0002317

Occasional (29-5%)(36)

  • Abnormal retinal vascular morphologyHP:0008046
  • Abnormal scrotum morphologyHP:0000045
  • Bilateral tonic-clonic seizure with generalized onsetHP:0025190
  • BlindnessHP:0000618
  • Broad nasal tipHP:0000455
  • CardiomyopathyHP:0001638
  • Cherry red spot of the maculaHP:0010729
  • Congestive heart failureHP:0001635
  • Corneal opacityHP:0007957
  • Depressed nasal bridgeHP:0005280
  • Dysostosis multiplexHP:0000943
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Feeding difficultiesHP:0011968
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • GastroschisisHP:0001543
  • Generalized hypotoniaHP:0001290
  • HirsutismHP:0001007
  • Hydrops fetalisHP:0001789
  • KyphosisHP:0002808
  • Limb undergrowthHP:0009826
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • Mongolian blue spotHP:0011369
  • Narrow mouthHP:0000160
  • Optic atrophyHP:0000648
  • Oral aversionHP:0012523
  • Patent ductus arteriosusHP:0001643
  • PlatyspondylyHP:0000926
  • Premature birthHP:0001622
  • Recurrent respiratory infectionsHP:0002205
  • Retinopathy of prematurityHP:0500049
  • ScoliosisHP:0002650
  • Ventricular septal defectHP:0001629

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

  • Aspiration pneumoniaHP:0011951
  • Decerebrate rigidityHP:0025013
  • EncephalomalaciaHP:0040197
  • Gastrostomy tube feeding in infancyHP:0011471