Ataxia-telangiectasia
ORPHA:100DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)23
HP:0000147Polycystic ovaries
HP:0000486Strabismus
HP:0000496Abnormality of eye movement
HP:0000639Nystagmus
HP:0000823Delayed puberty
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001888Lymphopenia
HP:0002167Abnormality of speech or vocalization
HP:0002205Recurrent respiratory infections
HP:0002216Premature graying of hair
HP:0002715Abnormality of the immune system
HP:0002721Immunodeficiency
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003220Abnormality of chromosome stability
HP:0004313Decreased circulating antibody level
HP:0005374Cellular immunodeficiency
HP:0007495Prematurely aged appearance
HP:0010515Aplasia/Hypoplasia of the thymus
HP:0100022Abnormality of movement
HP:0100579Mucosal telangiectasiae
HP:0100585Telangiectasia of the skin
Частый (30–79%)8
HP:0000819Diabetes mellitus
HP:0001250Seizure
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0002664Neoplasm
HP:0003202Skeletal muscle atrophy
HP:0004322Short stature
HP:0005599Hypopigmentation of hair
Периодический (5–29%)6
HP:0000035Abnormal testis morphology
HP:0001508Failure to thrive
HP:0005978Type II diabetes mellitus
HP:0007565Multiple cafe-au-lait spots
HP:0008065Aplasia/Hypoplasia of the skin
HP:0100543Cognitive impairment
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 | Norway | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.4 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.49 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Portugal | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.19 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)