Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ORPHA:86818DiseaseX-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KCNE5 | potassium voltage-gated channel subfamily E regulatory subunit 5 | Role in the phenotype of | gene with protein product | 300328 |
| ACSL4 | acyl-CoA synthetase long chain family member 4 | Role in the phenotype of | gene with protein product | 300157 |
| AMMECR1 | AMMECR nuclear protein 1 | Role in the phenotype of | gene with protein product | 300195 |
Фенотипы (HPO)22
Очень частый (80–99%)9
HP:0000093Proteinuria
HP:0000272Malar flattening
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0001595Abnormality of the hair
HP:0002907Microscopic hematuria
HP:0005280Depressed nasal bridge
HP:0010864Intellectual disability, severe
HP:0100820Glomerulopathy
Частый (30–79%)7
HP:0000083Renal insufficiency
HP:0000233Thin vermilion border
HP:0000365Hearing impairment
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0004445Elliptocytosis
HP:0012471Thick vermilion border
Периодический (5–29%)6
HP:0000486Strabismus
HP:0000545Myopia
HP:0000944Abnormal metaphysis morphology
HP:0001643Patent ductus arteriosus
HP:0001646Abnormal aortic valve morphology
HP:0011069Supernumerary tooth
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)