| H00802 | |
| H number | H00802 |
| Name | Ehlers-Danlos syndrome |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:28306229 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 PMID:18324963 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 PMID:15566352 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 PMID:8923000 (COL5A1) AUTHORS Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG TITLE 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). JOURNAL Hum Mol Genet 5:1733-6 (1996) DOI:10.1093/hmg/5.11.1733 PMID:9425231 (COL5A2) AUTHORS Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG TITLE Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. JOURNAL Hum Mol Genet 7:249-55 (1998) DOI:10.1093/hmg/7.2.249 PMID:9288108 (TNXB) AUTHORS Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J TITLE Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. JOURNAL Nat Genet 17:104-8 (1997) DOI:10.1038/ng0997-104 PMID:29606302 (AEBP1) 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 |