KEGG   DISEASE: Ehlers-Danlos syndrome periodontal type
H02240                      Disease                                
Ehlers-Danlos syndrome periodontal type
Ehlers-Danlos syndrome type VIII
Ehlers-Danlos syndrome [DS:H00802]
Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H02240  Ehlers-Danlos syndrome periodontal type
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02240  Ehlers-Danlos syndrome periodontal type
hsa04610  Complement and coagulation cascades
(EDSPD1) C1R [HSA:715] [KO:K01330]
(EDSPD2) C1S [HSA:716] [KO:K01331]
Other DBs
ICD-11: LD28.1Y
ICD-10: Q79.6
MeSH: C562626
OMIM: 130080 617174
Cikla U, Sadighi A, Bauer A, Baskaya MK
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
J Neurol Surg Rep 75:e210-3 (2014)
PMID:27745832 (C1R C1S)
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet 99:1005-1014 (2016)

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