Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
ORPHA:280679DiseaseX-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)1
HP:0011834Moyamoya phenomenon
Частый (30–79%)17
HP:0000027Azoospermia
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000518Cataract
HP:0000707Abnormality of the nervous system
HP:0000815Hypergonadotropic hypogonadism
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0001342Cerebral hemorrhage
HP:0001644Dilated cardiomyopathy
HP:0001999Abnormal facial shape
HP:0002140Ischemic stroke
HP:0002216Premature graying of hair
HP:0004302Functional motor deficit
HP:0004322Short stature
HP:0007970Congenital ptosis
Периодический (5–29%)9
HP:0000369Low-set ears
HP:0000445Wide nose
HP:0000454Flared nostrils
HP:0000490Deeply set eye
HP:0000824Decreased response to growth hormone stimulation test
HP:0001263Global developmental delay
HP:0001324Muscle weakness
HP:0001677Coronaryartery atherosclerosis
HP:0008734Decreased testicular size
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)