Hereditary bullous dystrophy, macular type
ORPHA:1867DiseaseX-linked recessiveNeonatal
Фенотипы (HPO)23
Частый (30–79%)14
HP:0000252Microcephaly
HP:0000953Hyperpigmentation of the skin
HP:0001063Acrocyanosis
HP:0001182Tapered finger
HP:0001256Intellectual disability, mild
HP:0001596Alopecia
HP:0002090Pneumonia
HP:0004322Short stature
HP:0005590Spotty hypopigmentation
HP:0007957Corneal opacity
HP:0008066Abnormal blistering of the skin
HP:0008404Nail dystrophy
HP:0009381Short finger
HP:0011361Congenital abnormal hair pattern
Периодический (5–29%)9
HP:0000028Cryptorchidism
HP:0000262Turricephaly
HP:0000518Cataract
HP:0001510Growth delay
HP:0001627Abnormal heart morphology
HP:0003241External genital hypoplasia
HP:0008734Decreased testicular size
HP:0030148Heart murmur
HP:0500262Atrichia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)