FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Cutis laxa, recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		0.320 Biomarker disease CTD_human Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163 2002
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		0.320 Biomarker disease BEFREE Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. 19664000 2009
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		0.320 GeneticVariation disease BEFREE We conclude that recessive cutis laxa mutations in fibulin-5 result in misfolding, decreased secretion and a reduced interaction with elastin and fibrillin-1 leading to impaired elastic fiber development. 17035250 2006