Facioscapulohumeral dystrophy
ORPHA:269DiseaseAutosomal dominantAll ages
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DNMT3B | DNA methyltransferase 3 beta | Modifying germline mutation in | gene with protein product | 602900 |
| DUX4 | double homeobox 4 | Candidate gene tested in | gene with protein product | 606009 |
| DUX4L1 | double homeobox 4 like 1 (pseudogene) | Candidate gene tested in | Non-coding RNA | — |
| FRG1 | FSHD region gene 1 | Candidate gene tested in | gene with protein product | 601278 |
| SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 614982 |
| SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 | Modifying germline mutation in | gene with protein product | 614982 |
Фенотипы (HPO)37
Очень частый (80–99%)6
HP:0000298Mask-like facies
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003307Hyperlordosis
HP:0003323Progressive muscle weakness
HP:0003691Scapular winging
Частый (30–79%)25
HP:0000407Sensorineural hearing impairment
HP:0000491Keratitis
HP:0000509Conjunctivitis
HP:0000767Pectus excavatum
HP:0001288Gait disturbance
HP:0001538Protuberant abdomen
HP:0002091Restrictive ventilatory defect
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0003325Limb-girdle muscle weakness
HP:0003376Steppage gait
HP:0003458EMG: myopathic abnormalities
HP:0004673Decreased facial expression
HP:0006587Straight clavicles
HP:0008046Abnormal retinal vascular morphology
HP:0008959Distal upper limb muscle weakness
HP:0009023Abdominal wall muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0011712Right bundle branch block
HP:0012037Pectoralis amyotrophy
HP:0012532Chronic pain
HP:0030002Nocturnal lagophthalmos
HP:0030319Weakness of facial musculature
HP:0030664Beevor's sign
HP:0100595Camptocormia
Периодический (5–29%)6
HP:0000541Retinal detachment
HP:0000572Visual loss
HP:0001250Seizure
HP:0002093Respiratory insufficiency
HP:0005115Supraventricular arrhythmia
HP:0007898Exudative retinopathy
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.4 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.95 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 12 | Netherlands | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.3 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)