" /> Ehlers-danlos syndrome, periodontal type, 1 - CISMeF





Preferred Label : Ehlers-danlos syndrome, periodontal type, 1;

Symbol : EDSPD1;

CISMeF acronym : EDSPD1; EDS8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ehlers-danlos syndrome, type VIII; Ehlers-danlos syndrome, periodontitis type; Ehlers-danlos syndrome, periodontosis type; EDS8; Eds VIII;

Description : The Ehlers-Danlos syndromes (EDS) constitute a family of inherited disorders of connective tissue that share the common features of joint hypermobility and skin abnormalities. EDS type VIII is distinguished from other EDS subtypes by severe gingival recession and periodontitis leading to premature loss of permanent teeth and resorption of alveolar bone by the third decade of life, as well as lack of vascular and organ rupture (summary by Reinstein et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the complement component-1, r-subcomponent gene (C1R, 613785.0001);

Prefixed ID : #130080;

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26/07/2025


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