Fabry disease
ORPHA:324DiseaseX-linked dominant, X-linked recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)76
Очень частый (80–99%)25
HP:0000083Renal insufficiency
HP:0000100Nephrotic syndrome
HP:0000365Hearing impairment
HP:0000524Conjunctival telangiectasia
HP:0000790Hematuria
HP:0000962Hyperkeratosis
HP:0000966Hypohidrosis
HP:0001014Angiokeratoma
HP:0001131Corneal dystrophy
HP:0001369Arthritis
HP:0001482Subcutaneous nodule
HP:0001635Congestive heart failure
HP:0001903Anemia
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002326Transient ischemic attack
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0004343Abnormal glycosphingolipid metabolism
HP:0007957Corneal opacity
HP:0012378Fatigue
HP:0033595Elevated circulating globotriaosylceramide concentration
HP:0034864Decreased alpha-galactosidase A activity
HP:0100579Mucosal telangiectasiae
HP:0100585Telangiectasia of the skin
Частый (30–79%)26
HP:0000091Abnormal renal tubule morphology
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0000179Thick lower lip vermilion
HP:0000280Coarse facial features
HP:0000360Tinnitus
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000823Delayed puberty
HP:0001646Abnormal aortic valve morphology
HP:0001653Mitral regurgitation
HP:0001678Atrioventricular block
HP:0002017Nausea and vomiting
HP:0002039Anorexia
HP:0002046Heat intolerance
HP:0002097Emphysema
HP:0003077Hyperlipidemia
HP:0003119Abnormal circulating lipid concentration
HP:0003546Exercise intolerance
HP:0004322Short stature
HP:0011710Bundle branch block
HP:0012532Chronic pain
HP:0031006Acroparesthesia
HP:0100543Cognitive impairment
HP:0500008Cornea verticillata
Периодический (5–29%)24
HP:0000407Sensorineural hearing impairment
HP:0000716Depression
HP:0000739Anxiety
HP:0000822Hypertension
HP:0000873Diabetes insipidus
HP:0001004Lymphedema
HP:0001250Seizure
HP:0001297Stroke
HP:0001637Abnormal myocardium morphology
HP:0001639Hypertrophic cardiomyopathy
HP:0001681Angina pectoris
HP:0001712Left ventricular hypertrophy
HP:0001945Fever
HP:0002093Respiratory insufficiency
HP:0002094Dyspnea
HP:0002321Vertigo
HP:0002376Developmental regression
HP:0002571Achalasia
HP:0002823Abnormality of femur morphology
HP:0004306Abnormality of the endocardium
HP:0004349Reduced bone mineral density
HP:0006510Chronic pulmonary obstruction
HP:0011675Arrhythmia
HP:0100820Glomerulopathy
Очень редкий (1–4%)1
HP:0000975Hyperhidrosis
Эпидемиология11
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 6.66 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 6.96 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.52 | Czech Republic | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.015 | Turkey | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.11 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.118 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)