Mohr-Tranebjaerg syndrome
ORPHA:52368DiseaseX-linked recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)41
Частый (30–79%)20
HP:0000375Abnormal cochlea morphology
HP:0000399Prelingual sensorineural hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0000649Abnormality of visual evoked potentials
HP:0000708Atypical behavior
HP:0001268Mental deterioration
HP:0001332Dystonia
HP:0001751Abnormal vestibular function
HP:0002283Global brain atrophy
HP:0003487Babinski sign
HP:0004463Absent brainstem auditory responses
HP:0006801Hyperactive deep tendon reflexes
HP:0007256Abnormal pyramidal sign
HP:0007325Generalized dystonia
HP:0007377Abnormality of somatosensory evoked potentials
HP:0008596Postlingual sensorineural hearing impairment
HP:0011448Ankle clonus
HP:0012048Oromandibular dystonia
Периодический (5–29%)20
HP:0000551Color vision defect
HP:0000572Visual loss
HP:0000603Central scotoma
HP:0000613Photophobia
HP:0000726Dementia
HP:0000751Personality changes
HP:0000763Sensory neuropathy
HP:0001337Tremor
HP:0002015Dysphagia
HP:0002172Postural instability
HP:0002186Apraxia
HP:0002340Caudate atrophy
HP:0002362Shuffling gait
HP:0002540Inability to walk
HP:0004373Focal dystonia
HP:0004432Agammaglobulinemia
HP:0009830Peripheral neuropathy
HP:0011951Aspiration pneumonia
HP:0011999Paranoia
HP:0100704Cerebral visual impairment
Очень редкий (1–4%)1
HP:0007018Attention deficit hyperactivity disorder
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 91 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)