Cutis Laxa, Autosomal Recessive, Type Iid (ARCL2D)

Cutis Laxa, Autosomal Recessive, Type Iid, also known as arcl2d, is related to inguinal hernia and congenital disorder of glycosylation, type iio. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iid is ATP6V1A (ATPase H+ Transporting V1 Subunit A), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Insulin receptor signalling cascade. Affiliated tissues include skin and cortex, and related phenotypes are low-set ears and reduced subcutaneous adipose tissue