Cutis Laxa, Autosomal Dominant 2 (ADCL2)

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OMIM 57 614434 Disease Ontology 12 DOID:0070136 ICD10 33 Q82.8 MedGen 42 C3280794

MeSH 44 D003483 SNOMED-CT via HPO 69 263681008 58588007 48724000 111266001 64217002 247434009 more UMLS 73 C3280794

UniProtKB/Swiss-Prot : ⁷⁵ Cutis laxa, autosomal dominant, 2: 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.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 2, also known as adcl2, is related to acquired cutis laxa and cutis laxa. An important gene associated with Cutis Laxa, Autosomal Dominant 2 is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, bone and eye, and related phenotypes are scoliosis and mitral regurgitation

Disease Ontology : ¹² An autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32.

OMIM : ⁵⁷ Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700). (614434)

Clinical features from OMIM:

614434

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