KEGG   DISEASE: Ehlers-Danlos syndrome periodontal type
Entry
H02240                      Disease                                
Name
Ehlers-Danlos syndrome periodontal type
  Subgroup
Ehlers-Danlos syndrome type VIII
  Supergrp
Ehlers-Danlos syndrome [DS:H00802]
Description
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.
Category
Congenital malformation
Brite
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
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06513  Complement cascade
   H02240  Ehlers-Danlos syndrome periodontal type
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06513 Complement cascade
Gene
(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
Reference
PMID:25485215
  Authors
Cikla U, Sadighi A, Bauer A, Baskaya MK
  Title
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).
  Journal
J Neurol Surg Rep 75:e210-3 (2014)
DOI:10.1055/s-0034-1387185
Reference
PMID:27745832 (C1R C1S)
  Authors
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
  Title
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
  Journal
Am J Hum Genet 99:1005-1014 (2016)
DOI:10.1016/j.ajhg.2016.08.019
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