Chronic visceral acid sphingomyelinase deficiency
ORPHA:77293DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)47
Частый (30–79%)20
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001410Decreased liver function
HP:0001744Splenomegaly
HP:0001873Thrombocytopenia
HP:0001971Hypersplenism
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0002750Delayed skeletal maturation
HP:0003077Hyperlipidemia
HP:0003119Abnormal circulating lipid concentration
HP:0003141Increased LDL cholesterol concentration
HP:0003233Decreased HDL cholesterol concentration
HP:0004322Short stature
HP:0006515Interstitial pneumonitis
HP:0006520Progressive pulmonary function impairment
HP:0006530Abnormal pulmonary interstitial morphology
HP:0010729Cherry red spot of the macula
HP:0012415Abnormal blood gas level
Периодический (5–29%)5
HP:0000707Abnormality of the nervous system
HP:0002194Delayed gross motor development
HP:0004887Respiratory failure requiring assisted ventilation
HP:0009830Peripheral neuropathy
HP:0030353Decreased serum insulin-like growth factor 1
Очень редкий (1–4%)22
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000716Depression
HP:0001081Cholelithiasis
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001317Abnormal cerebellum morphology
HP:0001328Specific learning disability
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001654Abnormal heart valve morphology
HP:0001677Coronaryartery atherosclerosis
HP:0001892Abnormal bleeding
HP:0001973Autoimmune thrombocytopenia
HP:0002121Generalized non-motor (absence) seizure
HP:0002186Apraxia
HP:0002725Systemic lupus erythematosus
HP:0002756Pathologic fracture
HP:0002896Neoplasm of the liver
HP:0004836Acute promyelocytic leukemia
HP:0007018Attention deficit hyperactivity disorder
HP:0007302Bipolar affective disorder
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)