Infantile Refsum disease
ORPHA:772DiseaseAutosomal recessiveAll ages
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PEX2 | peroxisomal biogenesis factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 170993 |
| PEX1 | peroxisomal biogenesis factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 602136 |
| PEX10 | peroxisomal biogenesis factor 10 | Disease-causing germline mutation(s) in | gene with protein product | 602859 |
| PEX12 | peroxisomal biogenesis factor 12 | Disease-causing germline mutation(s) in | gene with protein product | 601758 |
| PEX13 | peroxisomal biogenesis factor 13 | Disease-causing germline mutation(s) in | gene with protein product | 601789 |
| PEX14 | peroxisomal biogenesis factor 14 | Disease-causing germline mutation(s) in | gene with protein product | 601791 |
| PEX16 | peroxisomal biogenesis factor 16 | Disease-causing germline mutation(s) in | gene with protein product | 603360 |
| PEX19 | peroxisomal biogenesis factor 19 | Disease-causing germline mutation(s) in | gene with protein product | 600279 |
| PEX26 | peroxisomal biogenesis factor 26 | Disease-causing germline mutation(s) in | gene with protein product | 608666 |
| PEX3 | peroxisomal biogenesis factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 603164 |
| PEX5 | peroxisomal biogenesis factor 5 | Disease-causing germline mutation(s) in | gene with protein product | 600414 |
| PEX6 | peroxisomal biogenesis factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 601498 |
| PEX11B | peroxisomal biogenesis factor 11 beta | Disease-causing germline mutation(s) in | gene with protein product | 603867 |
Фенотипы (HPO)27
Очень частый (80–99%)11
HP:0000505Visual impairment
HP:0000510Rod-cone dystrophy
HP:0000662Nyctalopia
HP:0001133Constriction of peripheral visual field
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002240Hepatomegaly
HP:0003323Progressive muscle weakness
HP:0004322Short stature
HP:0008167Very long chain fatty acid accumulation
HP:0010571Elevated levels of phytanic acid
Частый (30–79%)7
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
Периодический (5–29%)9
HP:0000271Abnormality of the face
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001638Cardiomyopathy
HP:0005930Abnormality of epiphysis morphology
HP:0008064Ichthyosis
HP:0010628Facial palsy
HP:0011675Arrhythmia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)