Charcot-Marie-Tooth disease type 1E
ORPHA:90658DiseaseAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)6
HP:0000407Sensorineural hearing impairment
HP:0000762Decreased nerve conduction velocity
HP:0002936Distal sensory impairment
HP:0007108Demyelinating peripheral neuropathy
HP:0009053Distal lower limb muscle weakness
HP:0001288Gait disturbance
Частый (30–79%)21
HP:0000615Abnormal pupil morphology
HP:0001288Gait disturbance
HP:0001761Pes cavus
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002172Postural instability
HP:0002522Areflexia of lower limbs
HP:0002600Hyporeflexia of lower limbs
HP:0008944Distal lower limb amyotrophy
HP:0008962Calf muscle hypoplasia
HP:0009027Foot dorsiflexor weakness
HP:0009049Peroneal muscle atrophy
HP:0009130Hand muscle atrophy
HP:0010829Impaired temperature sensition
HP:0010830Impaired tactile sensation
HP:0010832Abnormality of pain sensation
HP:0011727Peroneal muscle weakness
HP:0012074Tonic pupil
HP:0012391Hyporeflexia of upper limbs
HP:0030211Slow pupillary light response
HP:0030237Hand muscle weakness
HP:0031006Acroparesthesia
Периодический (5–29%)13
HP:0000360Tinnitus
HP:0001171Split hand
HP:0001263Global developmental delay
HP:0001765Hammertoe
HP:0002141Gait imbalance
HP:0002540Inability to walk
HP:0003376Steppage gait
HP:0008110Equinovarus deformity
HP:0008124Talipes calcaneovarus
HP:0009473Joint contracture of the hand
HP:0009916Anisocoria
HP:0011476Profound sensorineural hearing impairment
HP:0012735Cough
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)