Neurofibromatosis type 1
ORPHA:636DiseaseAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)77
Очень частый (80–99%)15
HP:0000707Abnormality of the nervous system
HP:0000823Delayed puberty
HP:0000995Melanocytic nevus
HP:0001012Multiple lipomas
HP:0001256Intellectual disability, mild
HP:0001328Specific learning disability
HP:0001482Subcutaneous nodule
HP:0002858Meningioma
HP:0007440Generalized hyperpigmentation
HP:0007565Multiple cafe-au-lait spots
HP:0008069Neoplasm of the skin
HP:0009592Astrocytoma
HP:0009732Plexiform neurofibroma
HP:0009737Lisch nodules
HP:0012733Macule
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000098Tall stature
HP:0000364Hearing abnormality
HP:0000365Hearing impairment
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000520Proptosis
HP:0000997Axillary freckling
HP:0001100Heterochromia iridis
HP:0001251Ataxia
HP:0002167Abnormality of speech or vocalization
HP:0002315Headache
HP:0002354Memory impairment
HP:0002652Skeletal dysplasia
HP:0002757Recurrent fractures
HP:0002857Genu valgum
HP:0003100Slender long bone
HP:0003401Paresthesia
HP:0007018Attention deficit hyperactivity disorder
HP:0030052Inguinal freckling
Периодический (5–29%)39
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000492Abnormal eyelid morphology
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000512Abnormal electroretinogram
HP:0000518Cataract
HP:0000545Myopia
HP:0000567Chorioretinal coloboma
HP:0000729Autistic behavior
HP:0000818Abnormality of the endocrine system
HP:0000822Hypertension
HP:0000826Precocious puberty
HP:0000924Abnormality of the skeletal system
HP:0000938Osteopenia
HP:0001053Hypopigmented skin patches
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0002086Abnormality of the respiratory system
HP:0002650Scoliosis
HP:0002664Neoplasm
HP:0002666Pheochromocytoma
HP:0002808Kyphosis
HP:0002970Genu varum
HP:0003272Abnormality of the hip bone
HP:0004322Short stature
HP:0005506Chronic myelogenous leukemia
HP:0007378Neoplasm of the gastrointestinal tract
HP:0007703Abnormality of retinal pigmentation
HP:0007957Corneal opacity
HP:0009734Optic nerve glioma
HP:0009735Spinal neurofibromas
HP:0010786Urinary tract neoplasm
HP:0010935Abnormality of the upper urinary tract
HP:0011362Abnormal hair quantity
HP:0100013Neoplasm of the breast
HP:0100242Sarcoma
HP:0100545Arterial stenosis
HP:0100723Gastrointestinal stroma tumor
Очень редкий (1–4%)3
HP:0001909Leukemia
HP:0002859Rhabdomyosarcoma
HP:0100570Carcinoid tumor
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 21 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 24.46 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 47.5 | New Zealand | Value and class |
| Point prevalence | 1-5 / 10 000 | 21.3 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 36.65 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 36.9 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 33.3 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 50 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.7 | Canada | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)