Mitochondrial trifunctional protein deficiency
ORPHA:746DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 600890 |
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 143450 |
Фенотипы (HPO)46
Очень частый (80–99%)3
HP:0001284Areflexia
HP:0003201Rhabdomyolysis
HP:0003546Exercise intolerance
Частый (30–79%)20
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001324Muscle weakness
HP:0001531Failure to thrive in infancy
HP:0001635Congestive heart failure
HP:0001638Cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0001985Hypoketotic hypoglycemia
HP:0002033Poor suck
HP:0002901Hypocalcemia
HP:0003394Muscle spasm
HP:0003551Difficulty climbing stairs
HP:0003756Skeletal myopathy
HP:0006555Diffuse hepatic steatosis
HP:0007340Lower limb muscle weakness
HP:0008872Feeding difficulties in infancy
HP:0009063Progressive distal muscle weakness
HP:0009830Peripheral neuropathy
HP:0011808Decreased patellar reflex
HP:0100626Chronic hepatic failure
Периодический (5–29%)19
HP:0000580Pigmentary retinopathy
HP:0000829Hypoparathyroidism
HP:0001250Seizure
HP:0001259Coma
HP:0001270Motor delay
HP:0001396Cholestasis
HP:0001653Mitral regurgitation
HP:0001761Pes cavus
HP:0002093Respiratory insufficiency
HP:0002359Frequent falls
HP:0002878Respiratory failure
HP:0003324Generalized muscle weakness
HP:0003326Myalgia
HP:0003487Babinski sign
HP:0005180Tricuspid regurgitation
HP:0008110Equinovarus deformity
HP:0008138Equinus calcaneus
HP:0011675Arrhythmia
HP:0030051Tip-toe gait
Очень редкий (1–4%)4
HP:0002476Primitive reflex
HP:0007067Distal peripheral sensory neuropathy
HP:0007141Sensorimotor neuropathy
HP:0025145Rigors
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)