H syndrome
ORPHA:168569Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)6
HP:0000823Delayed puberty
HP:0000953Hyperpigmentation of the skin
HP:0008734Decreased testicular size
HP:0030053Stiff skin
HP:0100324Scleroderma
HP:0100727Histiocytosis
Частый (30–79%)6
HP:0000365Hearing impairment
HP:0000998Hypertrichosis
HP:0001433Hepatosplenomegaly
HP:0002716Lymphadenopathy
HP:0004322Short stature
HP:0012385Camptodactyly
Периодический (5–29%)38
HP:0000027Azoospermia
HP:0000054Micropenis
HP:0000077Abnormality of the kidney
HP:0000105Enlarged kidney
HP:0000135Hypogonadism
HP:0000204Cleft upper lip
HP:0000212Gingival overgrowth
HP:0000141Amenorrhea
HP:0000238Hydrocephalus
HP:0000293Full cheeks
HP:0000520Proptosis
HP:0000534Abnormal eyebrow morphology
HP:0000771Gynecomastia
HP:0000819Diabetes mellitus
HP:0008064Ichthyosis
HP:0001084Corneal arcus
HP:0001256Intellectual disability, mild
HP:0001596Alopecia
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0001935Microcytic anemia
HP:0001954Recurrent fever
HP:0002024Malabsorption
HP:0002110Bronchiectasis
HP:0002155Hypertriglyceridemia
HP:0002257Chronic rhinitis
HP:0002619Varicose veins
HP:0002750Delayed skeletal maturation
HP:0002757Recurrent fractures
HP:0002797Osteolysis
HP:0003765Psoriasiform dermatitis
HP:0001347Hyperreflexia
HP:0007380Facial telangiectasia
HP:0009125Lipodystrophy
HP:0011025Abnormality of cardiovascular system physiology
HP:0012724Upper eyelid edema
HP:0100776Recurrent pharyngitis
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)