Periodontal Ehlers-Danlos syndrome

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.



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Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(53.5%)		 16843123
 Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies.
Moore MM, Votava JM, Orlow SJ, Schaffer JV.
J Am Acad Dermatol. 2006;55(2 Suppl):S41-5.
Triangular face Periodontitis Arachnodactyly
Age of Onset Child Contusions Ehlers-Danlos Syndrome Facies Homo sapiens Male Marfan Syndrome Periodontitis Somatotype
2
(27.8%)		 30252959
(6282529)
 High risk of peri-implant disease in periodontal Ehlers-Danlos Syndrome. A case series.
Rinner A, Zschocke J, Schossig A, Grobner R, Strobl H, Kapferer-Seebacher I.
Clin Oral Implants Res. 2018;:.
Severe periodontitis
2
(27.8%)		 30025171
 A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene.
Wu J, Yang J, Zhao J, Wu J, Zhang X, Leung WK, Sun W.
J Clin Periodontol. 2018;45(11):1311-1318.
Severe periodontitis
C1R COL3A1
c|DEL|1322|G c|SUB|T|265|C
Collagen Type III Ehlers-Danlos Syndrome Homo sapiens Missense Mutation Mutation Periodontitis
2
(27.8%)		 25485215
(4242822)
 Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
Ckla U, Sadighi A, Bauer A, Baskaya MK.
J Neurol Surg Rep. 2014;75(2):e210-3.
Periodontitis
COX8A
rs1057518646
2
(27.8%)		 22739343
 Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ.
Eur J Hum Genet. 2013;21(2):233-6.
Periodontitis
COX8A
rs1057515579
Alveolar Bone Loss Child, Preschool Connective Tissue Ehlers-Danlos Syndrome Females Homo sapiens Joints Periodontitis Skin
2
(27.8%)		 7606321
 Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time.
Cunniff C, Williamson-Kruse L.
Clin Dysmorphol. 1995;4(2):145-9.
Severe periodontitis
COX8A
Blood Coagulation Disorders Child Ehlers-Danlos Syndrome Females Homo sapiens Periodontitis Time Factors
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000704 Periodontitis Very frequent (99-80%)
HP:0001034 Hypermelanotic macule Very frequent (99-80%)
HP:0001075 Atrophic scars Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000212 Gingival overgrowth Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0000974 Hyperextensible skin Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0006308 Atrophy of alveolar ridges Frequent (79-30%)
HP:0006349 Agenesis of permanent teeth Frequent (79-30%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0006323 Premature loss of primary teeth Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000166 Severe periodontitis 3
HP:0000704 Periodontitis 1
HP:0001892 Abnormal bleeding 1
HP:0002315 Headache 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
C1S complement C1s 716
C1R complement C1r 715