FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Pulmonary Emphysema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.010 GeneticVariation disease BEFREE We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. 24962763 2014