Farber disease
ORPHA:333DiseaseAutosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)70
Очень частый (80–99%)6
HP:0001369Arthritis
HP:0001371Flexion contracture
HP:0001386Joint swelling
HP:0001609Hoarse voice
HP:0007470Periarticular subcutaneous nodules
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)13
HP:0000707Abnormality of the nervous system
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001615Hoarse cry
HP:0002086Abnormality of the respiratory system
HP:0002829Arthralgia
HP:0003444EMG: chronic denervation signs
HP:0003640Foam cells in visceral organs and CNS
HP:0008947Floppy infant
HP:0010729Cherry red spot of the macula
HP:0011842Abnormality of skeletal morphology
Периодический (5–29%)33
HP:0000502Abnormal conjunctiva morphology
HP:0000608Macular degeneration
HP:0000766Abnormal sternum morphology
HP:0000939Osteoporosis
HP:0001155Abnormality of the hand
HP:0001250Seizure
HP:0001257Spasticity
HP:0001336Myoclonus
HP:0001433Hepatosplenomegaly
HP:0001612Weak cry
HP:0001618Dysphonia
HP:0001760Abnormal foot morphology
HP:0001954Recurrent fever
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002207Diffuse reticular or finely nodular infiltrations
HP:0002300Mutism
HP:0002376Developmental regression
HP:0002788Recurrent upper respiratory tract infections
HP:0002815Abnormality of the knee
HP:0003019Abnormality of the wrist
HP:0003202Skeletal muscle atrophy
HP:0004322Short stature
HP:0005483Abnormal epiglottis morphology
HP:0006511Laryngeal stridor
HP:0007957Corneal opacity
HP:0009811Abnormality of the elbow
HP:0011968Feeding difficulties
HP:0012444Brain atrophy
HP:0025392Nodular pattern on pulmonary HRCT
HP:0025405Visual fixation instability
HP:0025423Abnormal larynx morphology
HP:0100750Atelectasis
Очень редкий (1–4%)18
HP:0000639Nystagmus
HP:0001395Hepatic fibrosis
HP:0001399Hepatic failure
HP:0001541Ascites
HP:0001686Loss of voice
HP:0001789Hydrops fetalis
HP:0001831Short toe
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0001999Abnormal facial shape
HP:0002028Chronic diarrhea
HP:0002385Paraparesis
HP:0002716Lymphadenopathy
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006575Intrahepatic cholestasis with episodic jaundice
HP:0007759Opacification of the corneal stroma
HP:0009381Short finger
HP:0012469Infantile spasms
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 96 | 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)