FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Cutis laxa, autosomal recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.050 GeneticVariation disease BEFREE Ten fibulin 5 sequence variants have been associated with AMD and two other fibulin 5 mutations cause autosomal-recessive cutis laxa. 20007835 2010
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.050 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: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.050 GeneticVariation disease BEFREE In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. 18819152 2008
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.050 GeneticVariation disease BEFREE Mutation analysis of the fibulin-5 gene (FBLN5), which has been reported in cases of autosomal recessive cutis laxa, revealed no mutations in the patients' DNA. 15955459 2005
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.050 GeneticVariation disease BEFREE Elsewhere, frameshift mutations in the elastin gene have been reported in three families with autosomal dominant inheritance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous missense mutation in the fibulin-5 gene. 12618961 2003