COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Lymphatic Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		0.010 GeneticVariation group BEFREE Truncular venous malformations and acquired functional or anatomical venous occlusions (or sub-occlusions) can be the cause of secondary lymphedema and even the cause of primary lymphedema when they are associated with lymphatic malformations (lymphangiodysplasia - LAD I, lymphadenodysplasia - LAD II, or a combination of both) in pediatric patients. 30234251 2017