Megacystis-microcolon-intestinal hypoperistalsis syndrome
ORPHA:2241Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LMOD1 | leiomodin 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602715 |
| MYH11 | myosin heavy chain 11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 160745 |
| ACTG2 | actin gamma 2, smooth muscle | Disease-causing germline mutation(s) in | gene with protein product | 102545 |
| MYLK | myosin light chain kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600922 |
Фенотипы (HPO)17
Очень частый (80–99%)5
HP:0000021Megacystis
HP:0002017Nausea and vomiting
HP:0003270Abdominal distention
HP:0004388Microcolon
HP:0100771Hypoperistalsis
Частый (30–79%)5
HP:0000003Multicystic kidney dysplasia
HP:0000072Hydroureter
HP:0001561Polyhydramnios
HP:0002566Intestinal malrotation
HP:0011024Abnormality of the gastrointestinal tract
Периодический (5–29%)7
HP:0000028Cryptorchidism
HP:0001522Death in infancy
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0030680Abnormal cardiovascular system morphology
HP:0100544Neoplasm of the heart
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 230 | 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)