Blepharophimosis-ptosis-epicanthus inversus syndrome plus
ORPHA:572333Malformation syndromeAntenatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)4
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000537Epicanthus inversus
HP:0000581Blepharophimosis
Частый (30–79%)8
HP:0000322Short philtrum
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000539Abnormality of refraction
HP:0000633Decreased lacrimation
HP:0000646Amblyopia
HP:0007656Lacrimal gland aplasia
HP:0011481Abnormal lacrimal duct morphology
Периодический (5–29%)22
HP:0000013Hypoplasia of the uterus
HP:0000144Decreased fertility
HP:0000147Polycystic ovaries
HP:0000486Strabismus
HP:0000574Thick eyebrow
HP:0000656Ectropion
HP:0000815Hypergonadotropic hypogonadism
HP:0000869Secondary amenorrhea
HP:0000876Oligomenorrhea
HP:0002553Highly arched eyebrow
HP:0007732Lacrimal gland hypoplasia
HP:0007835S-shaped palpebral fissures
HP:0008209Premature ovarian insufficiency
HP:0008214Decreased serum estradiol
HP:0008222Female infertility
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0008233Decreased circulating progesterone
HP:0010464Streak ovary
HP:0010748Ectopic lacrimal punctum
HP:0011969Elevated circulating luteinizing hormone level
HP:0025572Punctal stenosis
HP:0032514Duplicated lacrimal punctum
Очень редкий (1–4%)1
HP:0000639Nystagmus
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)