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Werner syndrome
ORPHA:902 · Disease · Disorder
HPO 表現型（共 59 項）
Very frequent (99-80%)(15)
- Abnormal hair whorlHP:0010721
- Abnormal thorax morphologyHP:0000765
- Abnormality of the voiceHP:0001608
- CataractHP:0000518
- Convex nasal ridgeHP:0000444
- HypogonadismHP:0000135
- LipoatrophyHP:0100578
- OsteoporosisHP:0000939
- Pili tortiHP:0003777
- Premature graying of hairHP:0002216
- Prematurely aged appearanceHP:0007495
- Short statureHP:0004322
- Slender buildHP:0001533
- Sparse scalp hairHP:0002209
- White forelockHP:0002211
Frequent (79-30%)(23)
- Abnormal retinal pigmentationHP:0007703
- Abnormal testis morphologyHP:0000035
- Aplasia/Hypoplasia of the skinHP:0008065
- Aplasia/Hypoplasia of the testesHP:0010468
- AtherosclerosisHP:0002621
- ChondrocalcinosisHP:0000934
- Congestive heart failureHP:0001635
- Decreased fertilityHP:0000144
- HyperkeratosisHP:0000962
- Increased bone mineral densityHP:0011001
- Insulin resistanceHP:0000855
- Lack of skin elasticityHP:0100679
- LipodystrophyHP:0009125
- Myocardial infarctionHP:0001658
- Narrow faceHP:0000275
- Pulmonary artery stenosisHP:0004415
- Rocker bottom footHP:0001838
- Skeletal muscle atrophyHP:0003202
- Skin ulcerHP:0200042
- Small handHP:0200055
- Subcutaneous calcificationHP:0007618
- Telangiectasia of the skinHP:0100585
- Type II diabetes mellitusHP:0005978
Occasional (29-5%)(21)
- Abnormal cerebral vascular morphologyHP:0100659
- Acral lentiginous melanomaHP:0012060
- Breast carcinomaHP:0003002
- Cutaneous melanomaHP:0012056
- Gastrointestinal carcinomaHP:0002672
- HypertensionHP:0000822
- Joint stiffnessHP:0001387
- LaryngomalaciaHP:0001601
- MelanomaHP:0002861
- MeningiomaHP:0002858
- NeoplasmHP:0002664
- Neoplasm of the lungHP:0100526
- Neoplasm of the oral cavityHP:0100649
- Neoplasm of the small intestineHP:0100833
- Ovarian neoplasmHP:0100615
- Renal neoplasmHP:0009726
- SarcomaHP:0100242
- Secondary amenorrheaHP:0000869
- Spontaneous abortionHP:0005268
- Squamous cell carcinomaHP:0002860
- Thyroid carcinomaHP:0002890