Fetal Akinesia Deformation Sequence

About the Disease
Fetal Akinesia Deformation Sequence 1, also known as fetal akinesia deformation sequence, is related to polyhydramnios and multiple pterygium syndrome, escobar variant. An important gene associated with Fetal Akinesia Deformation Sequence 1 is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Agrin Interactions at Neuromuscular Junction and "Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics". The drugs Borage oil and Soy Bean have been mentioned in the context of this disorder. Affiliated tissues include lung, placenta and bone, and related phenotypes are respiratory insufficiency and intrauterine growth retardation

Common Targets
MUSK | PIEZO2 | TRPV4 | ZNF148 | AGRN | SLC18A3 | CHRNE | SRD5A3 | SLC6A9 | DOK7 | SCN4A | GBE1 | GPC3 | RIT1 | TNNT3 | KLHL40 | NMNAT2 | MYH3 | PTPN11 | CHAT | CHRNB1 | TUBA1A | SLC5A7 | GLB1 | NUP88 | MAGEL2 | KIF21A | ACTA1 | GLDN | NALCN | HRAS | NEB | CHRNA1 | RAPSN | RYR1

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