Abetalipoproteinemia
ORPHA:14DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)63
Очень частый (80–99%)6
HP:0000707Abnormality of the nervous system
HP:0001927Acanthocytosis
HP:0002570Steatorrhea
HP:0002630Fat malabsorption
HP:0025201Abnormal circulating apolipoprotein concentration
HP:0100513Low levels of vitamin E
Частый (30–79%)18
HP:0000529Progressive visual loss
HP:0000551Color vision defect
HP:0000662Nyctalopia
HP:0001284Areflexia
HP:0001508Failure to thrive
HP:0001903Anemia
HP:0001923Reticulocytosis
HP:0002028Chronic diarrhea
HP:0002904Hyperbilirubinemia
HP:0003073Hypoalbuminemia
HP:0003146Hypocholesterolemia
HP:0003233Decreased HDL cholesterol concentration
HP:0003326Myalgia
HP:0003563Decreased LDL cholesterol concentration
HP:0004905Low levels of vitamin A
HP:0007703Abnormality of retinal pigmentation
HP:0012153Hypotriglyceridemia
HP:0100512Low levels of vitamin D
Периодический (5–29%)27
HP:0000510Rod-cone dystrophy
HP:0000575Scotoma
HP:0000938Osteopenia
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001397Hepatic steatosis
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002013Vomiting
HP:0002066Gait ataxia
HP:0002136Broad-based gait
HP:0002240Hepatomegaly
HP:0002403Positive Romberg sign
HP:0002493Upper motor neuron dysfunction
HP:0002495Impaired vibratory sensation
HP:0002751Kyphoscoliosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003198Myopathy
HP:0003376Steppage gait
HP:0003487Babinski sign
HP:0006858Impaired distal proprioception
HP:0007894Hypopigmentation of the fundus
HP:0008151Prolonged prothrombin time
HP:0009053Distal lower limb muscle weakness
HP:0010831Impaired proprioception
HP:0025022Decreased erythrocyte sedimentation rate
Очень редкий (1–4%)12
HP:0000508Ptosis
HP:0000602Ophthalmoplegia
HP:0000618Blindness
HP:0000821Hypothyroidism
HP:0001097Keratoconjunctivitis sicca
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001635Congestive heart failure
HP:0001640Cardiomegaly
HP:0001892Abnormal bleeding
HP:0002878Respiratory failure
HP:0012804Corneal ulceration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 100 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)