Encephalocraniocutaneous lipomatosis
ORPHA:2396DiseaseNot applicableAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)55
Очень частый (80–99%)10
HP:0000488Retinopathy
HP:0000991Xanthomatosis
HP:0001012Multiple lipomas
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001482Subcutaneous nodule
HP:0001596Alopecia
HP:0009125Lipodystrophy
HP:0012759Neurodevelopmental abnormality
Частый (30–79%)33
HP:0001276Hypertonia
HP:0001331Absent septum pellucidum
HP:0001704Tricuspid valve prolapse
HP:0002059Cerebral atrophy
HP:0002063Rigidity
HP:0002092Pulmonary arterial hypertension
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002167Abnormality of speech or vocalization
HP:0002300Mutism
HP:0002381Aphasia
HP:0002514Cerebral calcification
HP:0002797Osteolysis
HP:0003552Muscle stiffness
HP:0004493Craniofacial hyperostosis
HP:0005306Capillary hemangioma
HP:0007957Corneal opacity
HP:0010529Echolalia
HP:0010622Neoplasm of the skeletal system
HP:0012062Bone cyst
HP:0012157Subcortical cerebral atrophy
HP:0100761Visceral angiomatosis
HP:0000256Macrocephaly
HP:0000271Abnormality of the face
HP:0000492Abnormal eyelid morphology
HP:0000499Abnormal eyelash morphology
HP:0000612Iris coloboma
HP:0000614Abnormal nasolacrimal system morphology
HP:0000708Atypical behavior
HP:0000929Abnormal skull morphology
HP:0001052Nevus flammeus
HP:0001257Spasticity
HP:0001274Agenesis of corpus callosum
Периодический (5–29%)12
HP:0000943Dysostosis multiplex
HP:0001269Hemiparesis
HP:0001650Aortic valve stenosis
HP:0001679Abnormal aortic morphology
HP:0001680Coarctation of aorta
HP:0002301Hemiplegia
HP:0002445Tetraplegia
HP:0002652Skeletal dysplasia
HP:0002763Abnormal cartilage morphology
HP:0003470Paralysis
HP:0011611Interrupted aortic arch
HP:0040188Osteochondrosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 77 | 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)