KEGG   DISEASE: Ehlers-Danlos syndrome
Entry
H00802                      Disease                                

Name
Ehlers-Danlos syndrome
  Subgroup
EDS classical type
EDS classical-like type
EDS cardiac-valvular type [DS:H02241]
EDS vascular type [DS:H02242]
EDS hypermobility type
EDS arthrochalasia type [DS:H02243]
EDS dermatospraxis type [DS:H02244]
EDS kyphoscoliosis type [DS:H02245]
Brittle cornea syndrome [DS:H01902]
EDS spondylodysplastic type [DS:H02239]
EDS musculocontractural type [DS:H02246]
EDS myopathic type [DS:H02247]
EDS periodontal type [DS:H02240]
Description
Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00802  Ehlers-Danlos syndrome
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
    H00802  Ehlers-Danlos syndrome
Related
pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
Comment
The EDS classification was revised in 2017.
Other DBs
ICD-11: LD28.1
ICD-10: Q79.6
MeSH: D004535
OMIM: 130000 130010 130020 606408 618000
Reference
  Authors
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
  Title
The 2017 international classification of the Ehlers-Danlos syndromes.
  Journal
Am J Med Genet C Semin Med Genet 175:8-26 (2017)
DOI:10.1002/ajmg.c.31552
Reference
  Authors
Parapia LA, Jackson C
  Title
Ehlers-Danlos syndrome--a historical review.
  Journal
Br J Haematol 141:32-5 (2008)
DOI:10.1111/j.1365-2141.2008.06994.x
Reference
  Authors
De Paepe A, Malfait F
  Title
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
  Journal
Br J Haematol 127:491-500 (2004)
DOI:10.1111/j.1365-2141.2004.05220.x
Reference
  Authors
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
  Title
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
  Journal
Am J Med Genet A 152A:1333-46 (2010)
DOI:10.1002/ajmg.a.33498
Reference
  Authors
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS
  Title
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
  Journal
Am J Hum Genet 102:696-705 (2018)
DOI:10.1016/j.ajhg.2018.02.018

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