Adult Refsum disease
ORPHA:773DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены2
Фенотипы (HPO)38
Очень частый (80–99%)18
HP:0000458Anosmia
HP:0000478Abnormality of the eye
HP:0000488Retinopathy
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000958Dry skin
HP:0001251Ataxia
HP:0001638Cardiomyopathy
HP:0000407Sensorineural hearing impairment
HP:0001760Abnormal foot morphology
HP:0001939Abnormality of metabolism/homeostasis
HP:0002164Nail dysplasia
HP:0002652Skeletal dysplasia
HP:0004374Hemiplegia/hemiparesis
HP:0007256Abnormal pyramidal sign
HP:0007703Abnormality of retinal pigmentation
HP:0008064Ichthyosis
HP:0009830Peripheral neuropathy
Частый (30–79%)13
HP:0000496Abnormality of eye movement
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000662Nyctalopia
HP:0001744Splenomegaly
HP:0000616Miosis
HP:0001252Hypotonia
HP:0001765Hammertoe
HP:0002376Developmental regression
HP:0003202Skeletal muscle atrophy
HP:0005930Abnormality of epiphysis morphology
HP:0010049Short metacarpal
HP:0010864Intellectual disability, severe
Периодический (5–29%)7
HP:0000083Renal insufficiency
HP:0000529Progressive visual loss
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0001761Pes cavus
HP:0002093Respiratory insufficiency
HP:0012722Heart block
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Cases/families | — | 60 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)