Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ORPHA:2072Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)57
Частый (30–79%)8
HP:0001433Hepatosplenomegaly
HP:0001873Thrombocytopenia
HP:0003656Decreased beta-glucocerebrosidase level
HP:0004380Aortic valve calcification
HP:0004382Mitral valve calcification
HP:0004963Calcification of the aorta
HP:0007957Corneal opacity
HP:6001185Elevated circulating glucosylsphingosine concentration
Периодический (5–29%)27
HP:0000238Hydrocephalus
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000602Ophthalmoplegia
HP:0000657Oculomotor apraxia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001258Spastic paraplegia
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0001510Growth delay
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001714Ventricular hypertrophy
HP:0001718Mitral stenosis
HP:0001744Splenomegaly
HP:0001761Pes cavus
HP:0001822Hallux valgus
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002206Pulmonary fibrosis
HP:0002315Headache
HP:0004406Spontaneous, recurrent epistaxis
HP:0007018Attention deficit hyperactivity disorder
Очень редкий (1–4%)22
HP:0000027Azoospermia
HP:0000248Brachycephaly
HP:0000508Ptosis
HP:0000570Abnormal saccadic eye movements
HP:0000605Supranuclear gaze palsy
HP:0000767Pectus excavatum
HP:0000974Hyperextensible skin
HP:0001081Cholelithiasis
HP:0001270Motor delay
HP:0001276Hypertonia
HP:0002040Esophageal varix
HP:0002070Limb ataxia
HP:0002092Pulmonary arterial hypertension
HP:0002650Scoliosis
HP:0005619Thoracolumbar kyphosis
HP:0006530Abnormal pulmonary interstitial morphology
HP:0006689Bacterial endocarditis
HP:0010543Opsoclonus
HP:0011968Feeding difficulties
HP:0025160Abnormal temper tantrums
HP:0031364Ecchymosis
HP:0200042Skin ulcer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)