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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614434
UMLS:C3280794
MONDO:0013751
High level summary of knowledge for a disease, including descriptions and datasource references.