Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
ORPHA:502423DiseaseAutosomal dominantAdult, Infancy
Ассоциированные гены1
Фенотипы (HPO)47
Частый (30–79%)43
HP:0000218High palate
HP:0000276Long face
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000601Hypotelorism
HP:0000716Depression
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000786Primary amenorrhea
HP:0000836Hyperthyroidism
HP:0000870Increased circulating prolactin concentration
HP:0001256Intellectual disability, mild
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001321Cerebellar hypoplasia
HP:0001337Tremor
HP:0001510Growth delay
HP:0001761Pes cavus
HP:0002073Progressive cerebellar ataxia
HP:0002075Dysdiadochokinesis
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002761Generalized joint laxity
HP:0003326Myalgia
HP:0003391Gowers sign
HP:0003458EMG: myopathic abnormalities
HP:0003474Somatic sensory dysfunction
HP:0003557Increased variability in muscle fiber diameter
HP:0003701Proximal muscle weakness
HP:0003737Mitochondrial myopathy
HP:0004322Short stature
HP:0008180Mildly elevated creatine kinase
HP:0009051Increased muscle glycogen content
HP:0012032Lipoma
HP:0012240Increased intramyocellular lipid droplets
HP:0030319Weakness of facial musculature
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0100874Thick hair
HP:0100887Abnormality of globe size
Периодический (5–29%)2
HP:0000729Autistic behavior
HP:0100753Schizophrenia
Очень редкий (1–4%)2
HP:0000543Optic disc pallor
HP:0000580Pigmentary retinopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)