Fetal akinesia deformation sequence
ORPHA:994Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC18A3 | solute carrier family 18 member A3 | Disease-causing germline mutation(s) in | gene with protein product | 600336 |
| MYOD1 | myogenic differentiation 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 159970 |
| RAPSN | receptor associated protein of the synapse | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601592 |
| DOK7 | docking protein 7 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610285 |
| MUSK | muscle associated receptor tyrosine kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601296 |
| NUP88 | nucleoporin 88 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602552 |
| GLDN | gliomedin | Disease-causing germline mutation(s) in | gene with protein product | 608603 |
| KIF21A | kinesin family member 21A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608283 |
| MAGEL2 | MAGE family member L2 | Disease-causing germline mutation(s) in | gene with protein product | 605283 |
| TUBA1A | tubulin alpha 1a | Disease-causing germline mutation(s) in | gene with protein product | 602529 |
Фенотипы (HPO)24
Очень частый (80–99%)12
HP:0000347Micrognathia
HP:0001262Excessive daytime somnolence
HP:0001511Intrauterine growth retardation
HP:0001989Fetal akinesia sequence
HP:0002089Pulmonary hypoplasia
HP:0002093Respiratory insufficiency
HP:0002304Akinesia
HP:0002375Hypokinesia
HP:0002804Arthrogryposis multiplex congenita
HP:0002828Multiple joint contractures
HP:0010489Absent palmar crease
HP:0100490Camptodactyly of finger
Частый (30–79%)9
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000476Cystic hygroma
HP:0001561Polyhydramnios
HP:0002650Scoliosis
HP:0003700Generalized amyotrophy
HP:0005280Depressed nasal bridge
Периодический (5–29%)3
HP:0001059Pterygium
HP:0001305Dandy-Walker malformation
HP:0005245Intestinal hypoplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)