Cutis Laxa, Autosomal Dominant 3 (ADCL3)

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Disease Ontology 12 DOID:0070131 OMIM 56 616603 OMIM Phenotypic Series 56 PS123700 MeSH 43 D003483

ICD10 32 Q82.8 MedGen 41 C4225268 CN233153 SNOMED-CT via HPO 68 113194005 128602000 157265008 199612005 22033007 22066006 224958001 247434009 249808002 263681008 271611007 275478007 312894000 397932003 413921009 414403008 444879009 52515009 55726006 58588007 60234000 609587005 64634000 78164000 78441005 79410001 82779003 95515009 95735008 more

UniProtKB/Swiss-Prot : ⁷³ Cutis laxa, autosomal dominant, 3: A form of cutis laxa, 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. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 3, also known as adcl3, is related to cutis laxa, autosomal dominant 2 and atypical glycine encephalopathy. An important gene associated with Cutis Laxa, Autosomal Dominant 3 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Metabolism and Carbon metabolism. Affiliated tissues include skin and bone, and related phenotypes are osteopenia and strabismus

Disease Ontology : ¹² An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

OMIM : ⁵⁶ Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700). (616603)

Clinical features from OMIM:

616603

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