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cutis laxa, autosomal dominant 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.
Uniprot Description A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
Mondo Term and Equivalent IDs
MONDO:0013751:  cutis laxa, autosomal dominant 2
UMLS:C3280794: