Atypical Werner syndrome
ORPHA:79474DiseaseAutosomal dominant, UnknownAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)90
Очень частый (80–99%)72
HP:0000035Abnormal testis morphology
HP:0000135Hypogonadism
HP:0000144Decreased fertility
HP:0000233Thin vermilion border
HP:0000275Narrow face
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0000765Abnormal thorax morphology
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0000831Insulin-resistant diabetes mellitus
HP:0000905Progressive clavicular acroosteolysis
HP:0000842Hyperinsulinemia
HP:0000869Secondary amenorrhea
HP:0000934Chondrocalcinosis
HP:0000939Osteoporosis
HP:0000962Hyperkeratosis
HP:0000963Thin skin
HP:0001015Prominent superficial veins
HP:0009771Osteolytic defects of the phalanges of the hand
HP:0001376Limitation of joint mobility
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0004322Short stature
HP:0001595Abnormality of the hair
HP:0001596Alopecia
HP:0001601Laryngomalacia
HP:0001608Abnormality of the voice
HP:0001635Congestive heart failure
HP:0001677Coronaryartery atherosclerosis
HP:0001763Pes planus
HP:0001808Fragile nails
HP:0001838Rocker bottom foot
HP:0002155Hypertriglyceridemia
HP:0002211White forelock
HP:0002216Premature graying of hair
HP:0002231Sparse body hair
HP:0002669Osteosarcoma
HP:0003074Hyperglycemia
HP:0003076Glycosuria
HP:0003202Skeletal muscle atrophy
HP:0008981Calf muscle hypertrophy
HP:0003777Pili torti
HP:0004054Sclerosis of hand bone
HP:0004279Short palm
HP:0004325Decreased body weight
HP:0004349Reduced bone mineral density
HP:0004361Abnormality of circulating leptin level
HP:0004380Aortic valve calcification
HP:0004414Abnormality of the pulmonary artery
HP:0004950Peripheral arterial stenosis
HP:0005109Abnormality of the Achilles tendon
HP:0005177Premature arteriosclerosis
HP:0005328Progeroid facial appearance
HP:0005978Type II diabetes mellitus
HP:0007509Patchy hypo- and hyperpigmentation
HP:0007495Prematurely aged appearance
HP:0007618Subcutaneous calcification
HP:0007703Abnormality of retinal pigmentation
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008209Premature ovarian insufficiency
HP:0008283Fasting hyperinsulinemia
HP:0009064Generalized lipodystrophy
HP:0010721Abnormal hair whorl
HP:0011362Abnormal hair quantity
HP:0100578Lipoatrophy
HP:0100585Telangiectasia of the skin
HP:0100659Abnormality of the cerebral vasculature
HP:0100679Lack of skin elasticity
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0200042Skin ulcer
Частый (30–79%)12
HP:0000546Retinal degeneration
HP:0001650Aortic valve stenosis
HP:0002858Meningioma
HP:0008069Neoplasm of the skin
HP:0008419Intervertebral disc degeneration
HP:0009726Renal neoplasm
HP:0100013Neoplasm of the breast
HP:0100031Neoplasm of the thyroid gland
HP:0100526Neoplasm of the lung
HP:0100615Ovarian neoplasm
HP:0100649Neoplasm of the oral cavity
HP:0100833Neoplasm of the small intestine
Периодический (5–29%)6
HP:0000519Developmental cataract
HP:0001385Hip dysplasia
HP:0001634Mitral valve prolapse
HP:0003738Exercise-induced myalgia
HP:0011001Increased bone mineral density
HP:0040019Finger clinodactyly
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)