Disease: Cutis Laxa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 Biomarker disease BEFREE Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities. 26178373 2015
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 GeneticVariation disease BEFREE Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa. 24733866 2014
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 GeneticVariation disease BEFREE Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation. 22070778 2012
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 GeneticVariation disease BEFREE Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. 20389311 2010
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.650 Biomarker disease MGD