Bannayan-Riley-Ruvalcaba syndrome
ORPHA:109Clinical subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)12
HP:0000256Macrocephaly
HP:0002250Abnormal large intestine morphology
HP:0003764Nevus
HP:0004322Short stature
HP:0004390Hamartomatous polyposis
HP:0005306Capillary hemangioma
HP:0007400Irregular hyperpigmentation
HP:0012032Lipoma
HP:0100013Neoplasm of the breast
HP:0100026Arteriovenous malformation
HP:0100761Visceral angiomatosis
HP:0200008Intestinal polyposis
Частый (30–79%)4
HP:0000767Pectus excavatum
HP:0001482Subcutaneous nodule
HP:0001933Subcutaneous hemorrhage
HP:0002650Scoliosis
Периодический (5–29%)39
HP:0001382Joint hypermobility
HP:0000098Tall stature
HP:0000189Narrow palate
HP:0000268Dolichocephaly
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000587Abnormal optic nerve morphology
HP:0000872Hashimoto thyroiditis
HP:0000965Cutis marmorata
HP:0001004Lymphedema
HP:0001009Telangiectasia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001324Muscle weakness
HP:0001681Angina pectoris
HP:0001943Hypoglycemia
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
HP:0002170Intracranial hemorrhage
HP:0002194Delayed gross motor development
HP:0002664Neoplasm
HP:0002665Lymphoma
HP:0002750Delayed skeletal maturation
HP:0002858Meningioma
HP:0002890Thyroid carcinoma
HP:0003196Short nose
HP:0003198Myopathy
HP:0003202Skeletal muscle atrophy
HP:0004326Cachexia
HP:0004942Aortic aneurysm
HP:0007565Multiple cafe-au-lait spots
HP:0009023Abdominal wall muscle weakness
HP:0010784Uterine neoplasm
HP:0011304Broad thumb
HP:0100641Neoplasm of the adrenal cortex
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)