Microcephaly-lymphedema-chorioretinopathy syndrome
ORPHA:2526Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)67
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001004Lymphedema
Частый (30–79%)11
HP:0000545Myopia
HP:0000969Edema
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001595Abnormality of the hair
HP:0001820Leukonychia
HP:0007703Abnormality of retinal pigmentation
HP:0008388Abnormal toenail morphology
HP:0100644Melanonychia
Периодический (5–29%)52
HP:0007731Chorioretinal dysplasia
HP:0007973Retinal dysplasia
HP:0009891Underdeveloped supraorbital ridges
HP:0010310Chylothorax
HP:0012471Thick vermilion border
HP:0012490Panniculitis
HP:0040189Scaling skin
HP:0100658Cellulitis
HP:0100758Gangrene
HP:0200042Skin ulcer
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000307Pointed chin
HP:0000340Sloping forehead
HP:0000343Long philtrum
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000488Retinopathy
HP:0000492Abnormal eyelid morphology
HP:0000499Abnormal eyelash morphology
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000518Cataract
HP:0000528Anophthalmia
HP:0000541Retinal detachment
HP:0000556Retinal dystrophy
HP:0000568Microphthalmia
HP:0000572Visual loss
HP:0000582Upslanted palpebral fissure
HP:0000587Abnormal optic nerve morphology
HP:0000614Abnormal nasolacrimal system morphology
HP:0000618Blindness
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0000958Dry skin
HP:0001055Erysipelas
HP:0001072Thickened skin
HP:0001250Seizure
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001482Subcutaneous nodule
HP:0001631Atrial septal defect
HP:0001909Leukemia
HP:0002063Rigidity
HP:0002133Status epilepticus
HP:0002202Pleural effusion
HP:0002665Lymphoma
HP:0003510Severe short stature
HP:0003552Muscle stiffness
HP:0004936Venous thrombosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Family(ies) |
| 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)