Werner syndrome
ORPHA:902DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)15
HP:0000135Hypogonadism
HP:0000444Convex nasal ridge
HP:0000518Cataract
HP:0000765Abnormal thorax morphology
HP:0000939Osteoporosis
HP:0001533Slender build
HP:0001608Abnormality of the voice
HP:0002209Sparse scalp hair
HP:0002211White forelock
HP:0002216Premature graying of hair
HP:0003777Pili torti
HP:0004322Short stature
HP:0007495Prematurely aged appearance
HP:0010721Abnormal hair whorl
HP:0100578Lipoatrophy
Частый (30–79%)23
HP:0000035Abnormal testis morphology
HP:0000144Decreased fertility
HP:0000275Narrow face
HP:0000855Insulin resistance
HP:0000934Chondrocalcinosis
HP:0000962Hyperkeratosis
HP:0001635Congestive heart failure
HP:0001658Myocardial infarction
HP:0001838Rocker bottom foot
HP:0002621Atherosclerosis
HP:0003202Skeletal muscle atrophy
HP:0004415Pulmonary artery stenosis
HP:0005978Type II diabetes mellitus
HP:0007618Subcutaneous calcification
HP:0007703Abnormality of retinal pigmentation
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009125Lipodystrophy
HP:0010468Aplasia/Hypoplasia of the testes
HP:0011001Increased bone mineral density
HP:0100585Telangiectasia of the skin
HP:0100679Lack of skin elasticity
HP:0200042Skin ulcer
HP:0200055Small hand
Периодический (5–29%)21
HP:0000822Hypertension
HP:0000869Secondary amenorrhea
HP:0001387Joint stiffness
HP:0001601Laryngomalacia
HP:0002664Neoplasm
HP:0002672Gastrointestinal carcinoma
HP:0002858Meningioma
HP:0002860Squamous cell carcinoma
HP:0002861Melanoma
HP:0002890Thyroid carcinoma
HP:0003002Breast carcinoma
HP:0005268Spontaneous abortion
HP:0009726Renal neoplasm
HP:0012056Cutaneous melanoma
HP:0012060Acral lentiginous melanoma
HP:0100242Sarcoma
HP:0100526Neoplasm of the lung
HP:0100615Ovarian neoplasm
HP:0100649Neoplasm of the oral cavity
HP:0100659Abnormality of the cerebral vasculature
HP:0100833Neoplasm of the small intestine
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)