KEGG   DISEASE: Ehlers-Danlos syndrome
H00802                      Disease                                
Ehlers-Danlos syndrome
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]
Combined osteogenesis imperfecta and EDS [DS:H02724]
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).
Congenital malformation
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
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00802  Ehlers-Danlos syndrome
hsa04820  Cytoskeleton in muscle cells
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
nt06539 Cytoskeleton in muscle cells
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
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
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
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet 175:8-26 (2017)
Parapia LA, Jackson C
Ehlers-Danlos syndrome--a historical review.
Br J Haematol 141:32-5 (2008)
De Paepe A, Malfait F
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
Br J Haematol 127:491-500 (2004)
PMID:8923000 (COL5A1)
Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
Hum Mol Genet 5:1733-6 (1996)
PMID:9425231 (COL5A2)
Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
Hum Mol Genet 7:249-55 (1998)
PMID:9288108 (TNXB)
Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
Nat Genet 17:104-8 (1997)
PMID:29606302 (AEBP1)
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
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet 102:696-705 (2018)

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