Isolated succinate-CoQ reductase deficiency
ORPHA:3208DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) in | gene with protein product | 600857 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Disease-causing germline mutation(s) in | gene with protein product | 185470 |
| SDHD | succinate dehydrogenase complex subunit D | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602690 |
| SDHAF1 | succinate dehydrogenase complex assembly factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 612848 |
Фенотипы (HPO)50
Частый (30–79%)24
HP:0000478Abnormality of the eye
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001626Abnormality of the cardiovascular system
HP:0001639Hypertrophic cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0001824Weight loss
HP:0002123Generalized myoclonic seizure
HP:0002333Motor deterioration
HP:0002376Developmental regression
HP:0003324Generalized muscle weakness
HP:0003388Easy fatigability
HP:0003487Babinski sign
HP:0003508Proportionate short stature
HP:0003510Severe short stature
HP:0003693Distal amyotrophy
HP:0003701Proximal muscle weakness
HP:0003756Skeletal myopathy
HP:0005162Abnormal left ventricular function
HP:0006801Hyperactive deep tendon reflexes
HP:0007083Hyperactive patellar reflex
HP:0007272Progressive psychomotor deterioration
HP:0007350Hyperreflexia in upper limbs
HP:0007663Reduced visual acuity
Периодический (5–29%)18
HP:0006895Lower limb hypertonia
HP:0008872Feeding difficulties in infancy
HP:0011166Focal myoclonic seizure
HP:0011343Moderate global developmental delay
HP:0012817Noncompaction cardiomyopathy
HP:0040196Mild microcephaly
HP:0000737Irritability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001285Spastic tetraparesis
HP:0001290Generalized hypotonia
HP:0001511Intrauterine growth retardation
HP:0002313Spastic paraparesis
HP:0002359Frequent falls
HP:0002474Expressive language delay
HP:0003202Skeletal muscle atrophy
HP:0005150Abnormal atrioventricular conduction
HP:0006380Knee flexion contracture
Очень редкий (1–4%)8
HP:0000076Vesicoureteral reflux
HP:0000544External ophthalmoplegia
HP:0000580Pigmentary retinopathy
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000726Dementia
HP:0002421Poor head control
HP:0002505Loss of ambulation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 37 | 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)