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Schimke immuno-osseous dysplasia

ORPHA:1830 · Disease · Disorder

HPO 表現型（共 73 項）

Very frequent (99-80%)(7)

  • Abnormal femoral head morphologyHP:0003368
  • Abnormal lymphocyte physiologyHP:0031409
  • Focal segmental glomerulosclerosisHP:0000097
  • Intrauterine growth retardationHP:0001511
  • NephropathyHP:0000112
  • ProteinuriaHP:0000093
  • Short statureHP:0004322

Frequent (79-30%)(35)

  • Abdominal distentionHP:0003270
  • Abnormal facial shapeHP:0001999
  • Abnormal naive CD4+ T cell proportionHP:0410373
  • Abnormal T cell physiologyHP:0011840
  • Abnormality of the nervous systemHP:0000707
  • Abnormality of thyroid physiologyHP:0002926
  • AnemiaHP:0001903
  • AtherosclerosisHP:0002621
  • Broad nasal tipHP:0000455
  • Cerebral ischemiaHP:0002637
  • Decreased naive CD8+ T cell proportionHP:0410377
  • Decreased total lymphocyte countHP:0001888
  • Decreased total neutrophil countHP:0001875
  • Disproportionate short-trunk short statureHP:0003521
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HeadacheHP:0002315
  • HyperlipidemiaHP:0003077
  • Hypermelanotic maculeHP:0001034
  • HypertensionHP:0000822
  • Hypoplastic pelvisHP:0008839
  • Lumbar hyperlordosisHP:0002938
  • MicrodontiaHP:0000691
  • Multiple lentiginesHP:0001003
  • Nephrotic range proteinuriaHP:0012593
  • Ovoid vertebral bodiesHP:0003300
  • PlatyspondylyHP:0000926
  • Premature birthHP:0001622
  • Recurrent infectionsHP:0002719
  • SeizureHP:0001250
  • Severe T-cell immunodeficiencyHP:0005352
  • Shallow acetabular fossaeHP:0003182
  • Spondyloepiphyseal dysplasiaHP:0002655
  • StrokeHP:0001297
  • Wide capital femoral epiphysesHP:0008784

Occasional (29-5%)(23)

  • Abnormal primary molar morphologyHP:0006344
  • AphasiaHP:0002381
  • Arteriosclerosis of small cerebral arteriesHP:0004931
  • Congestive heart failureHP:0001635
  • Corneal opacityHP:0007957
  • Depressed nasal bridgeHP:0005280
  • DysarthriaHP:0001260
  • Failure to thriveHP:0001508
  • Focal hemiclonic seizureHP:0006813
  • HemiparesisHP:0001269
  • HemiplegiaHP:0002301
  • HypodontiaHP:0000668
  • Ischemic strokeHP:0002140
  • Microscopic hematuriaHP:0002907
  • Minimal change glomerulonephritisHP:0012579
  • Muscle weaknessHP:0001324
  • Pulmonary arterial hypertensionHP:0002092
  • Short neckHP:0000470
  • Small for gestational ageHP:0001518
  • Stage 5 chronic kidney diseaseHP:0003774
  • Status epilepticusHP:0002133
  • ThrombocytopeniaHP:0001873
  • Transient ischemic attackHP:0002326

Very rare (<4-1%)(8)

  • Abnormal intestine morphologyHP:0002242
  • AutoimmunityHP:0002960
  • Bone marrow hypocellularityHP:0005528
  • Developmental regressionHP:0002376
  • EncephalopathyHP:0001298
  • Lymphoproliferative disorderHP:0005523
  • Non-Hodgkin lymphomaHP:0012539
  • PancreatitisHP:0001733