Alacrimia-choreoathetosis-liver dysfunction syndrome
ORPHA:404454DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)91
Очень частый (80–99%)3
HP:0002059Cerebral atrophy
HP:0002487Hyperkinetic movements
HP:0007141Sensorimotor neuropathy
Частый (30–79%)27
HP:0003785Decreased CSF homovanillic acid concentration
HP:0012153Hypotriglyceridemia
HP:0012447Abnormal myelination
HP:0012450Chronic constipation
HP:0025455Decreased CSF 5-hydroxyindolacetic acid concentration
HP:0025457Decreased CSF protein
HP:0025458Decreased CSF albumin
HP:0040209Decreased CSF biopterin level
HP:0000522Alacrima
HP:0000633Decreased lacrimation
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001266Choreoathetosis
HP:0001272Cerebellar atrophy
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0002123Generalized myoclonic seizure
HP:0002187Intellectual disability, profound
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0002659Increased susceptibility to fractures
HP:0002870Obstructive sleep apnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003563Decreased LDL cholesterol concentration
Периодический (5–29%)53
HP:0000297Facial hypotonia
HP:0000559Corneal scarring
HP:0000657Oculomotor apraxia
HP:0001265Hyporeflexia
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001374Congenital hip dislocation
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001413Micronodular cirrhosis
HP:0001414Microvesicular hepatic steatosis
HP:0001744Splenomegaly
HP:0001771Achilles tendon contracture
HP:0001929Reduced factor XI activity
HP:0002072Chorea
HP:0002119Ventriculomegaly
HP:0002121Generalized non-motor (absence) seizure
HP:0002171Gliosis
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002305Athetosis
HP:0002345Action tremor
HP:0002421Poor head control
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002750Delayed skeletal maturation
HP:0002909Generalized aminoaciduria
HP:0003086Acromesomelia
HP:0003121Limb joint contracture
HP:0003447Axonal loss
HP:0003834Shoulder dislocation
HP:0004349Reduced bone mineral density
HP:0005484Secondary microcephaly
HP:0005543Reduced protein C activity
HP:0008151Prolonged prothrombin time
HP:0010819Atonic seizure
HP:0010821Focal emotional seizure with laughing
HP:0011167Focal tonic seizure
HP:0011900Hypofibrinogenemia
HP:0011954Nodular regenerative hyperplasia of liver
HP:0012340Decreased resting energy expenditure
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0020037Astasia
HP:0025336Delayed ability to sit
HP:0025401Staring gaze
HP:0030194Fatigable weakness of speech muscles
HP:0030906Suck reflex
HP:0031008Lingual dystonia
HP:0031051Tarsal sclerosis
HP:0031146Impaired oral bolus formation
HP:0031162Impaired oropharyngeal swallow response
HP:0100899Sclerosis of finger phalanx
Очень редкий (1–4%)8
HP:0000580Pigmentary retinopathy
HP:0000648Optic atrophy
HP:0001488Bilateral ptosis
HP:0011496Corneal neovascularization
HP:0030001Lagophthalmos
HP:0000543Optic disc pallor
HP:0000548Cone/cone-rod dystrophy
HP:0000577Exotropia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)