Ehlers-danlos syndrome, periodontal type, 1

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;

Details

Origin ID

130080;

UMLS CUI

C4551499;

Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome, periodontitis type [ICD-11 More detail]
- Ehlers-Danlos syndrome, type 8 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VIII [MeSH concept]
- Ehlers-Danlos syndrome, type VIII [MeSH Supplementary Concept]
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 8 [SNOMED Notion]
Genes related to phenotype
- Complement component 1, r subcomponent [OMIM gene]
HPO term(s)
- Alveolar bone loss around teeth [HPO term]
- Arachnodactyly [HPO term]
- Atrophic scars [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Bruising susceptibility [HPO term]
- Excessive wrinkled skin (palms and soles) [HPO term]
- Generalized joint laxity [HPO term]
- Gingival bleeding [HPO term]
- Gingival recession [HPO term]
- Hoarse voice [HPO term]
- Hyperextensible skin [HPO term]
- Inguinal hernia [HPO term]
- Intestinal perforation [HPO term]
- Joint laxity [HPO term]
- Joint laxity, mild [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Periodontitis [HPO term]
- Poor wound healing [HPO term]
- Premature loss of teeth [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
- Tall stature [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome, type 8 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VIII [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VIII [MeSH concept]
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 8 [SNOMED Notion]

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