Neutral lipid storage disease with ichthyosis
ORPHA:98907DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)2
HP:0007479Congenital nonbullous ichthyosiform erythroderma
HP:0009073Progressive proximal muscle weakness
Частый (30–79%)26
HP:0001288Gait disturbance
HP:0000385Small earlobe
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000523Subcapsular cataract
HP:0000639Nystagmus
HP:0000656Ectropion
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001284Areflexia
HP:0001397Hepatic steatosis
HP:0001596Alopecia
HP:0001638Cardiomyopathy
HP:0001911Abnormality of granulocytes
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002922Increased CSF protein concentration
HP:0003198Myopathy
HP:0003458EMG: myopathic abnormalities
HP:0003547Shoulder girdle muscle weakness
HP:0004322Short stature
HP:0012240Increased intramyocellular lipid droplets
HP:0012472Eclabion
HP:0040081Abnormal circulating creatine kinase concentration
Периодический (5–29%)2
HP:0001413Micronodular cirrhosis
HP:0007009Central nervous system degeneration
Исключён (0%)2
HP:0001513Obesity
HP:0001946Ketosis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)