Hermansky-Pudlak syndrome
ORPHA:79430DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)7
HP:0000639Nystagmus
HP:0001010Hypopigmentation of the skin
HP:0001875Decreased total neutrophil count
HP:0001892Abnormal bleeding
HP:0002721Immunodeficiency
HP:0007443Partial albinism
HP:0007730Iris hypopigmentation
Частый (30–79%)15
HP:0000083Renal insufficiency
HP:0000421Epistaxis
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000518Cataract
HP:0000545Myopia
HP:0000587Abnormal optic nerve morphology
HP:0000613Photophobia
HP:0000646Amblyopia
HP:0000649Abnormality of visual evoked potentials
HP:0000978Bruising susceptibility
HP:0001107Ocular albinism
HP:0002206Pulmonary fibrosis
HP:0005599Hypopigmentation of hair
HP:0400008Menometrorrhagia
Периодический (5–29%)17
HP:0000505Visual impairment
HP:0000527Long eyelashes
HP:0000682Abnormality of dental enamel
HP:0000962Hyperkeratosis
HP:0000995Melanocytic nevus
HP:0001072Thickened skin
HP:0001638Cardiomyopathy
HP:0001824Weight loss
HP:0001872Abnormality of thrombocytes
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0002094Dyspnea
HP:0002239Gastrointestinal hemorrhage
HP:0002671Basal cell carcinoma
HP:0006739Squamous cell carcinoma of the skin
HP:0012378Fatigue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 55 | Puerto rico | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)