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Ehlers-Danlos syndrome
(section)
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== Pathophysiology == EDS is a diverse group of inherited connective-tissue disorders. Joint hypermobility, skin fragility, and hyperextensibility characterize the disorders. Collagen defect has been identified in at least six types.<ref name=":2">{{Cite journal | last = | first = | date = Jan 11, 2018 | title = Ehlers-Danlos Syndrome: Background, Pathophysiology, Etiology| url = https://emedicine.medscape.com/article/1114004-overview#a5|url-access=registration|journal=Medscape|volume= | pages = |at=Pathophysiology|via=}}</ref> The vascular form is characterized by a decreased amount of type III collagen. It is [https://medlineplus.gov/ency/article/002049.htm autosomal dominant] (AD), one parent with a defective gene are needed to pass on this form of EDS and is caused by mutations in COL3A1. This results in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death.<ref>{{Cite web | url = https://reference.medscape.com/medline/abstract/23489429 | title = A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. | last = Eder | first = J | last2 = Laccone | first2 = F | date = |website=reference.medscape.com| publisher = Medscape|url-access=registration|issn=| archive-url = | archive-date = |url-status = | access-date=2018-10-06 | last3 = Rohrbach | first3 = M | last4 = Guinta | first4 = C | last5 = Aumayr | first5 = K | last6 = Reichel | first6 = C | last7 = Trautinger | first7 = F}}</ref> In EDS types I and II, cEDS and clEDS, causative mutations may involved the ''COL5A1, COL5A2,'' and ''tenascin-X'' genes and are implied to be in the ''COL1A2'' gene. "Although half of the mutations that cause Ehlers-Danlos syndrome types I and II are likely to affect the ''COL5A1'' gene, a significant portion of the mutations result in low levels of mRNA from the mutant allele as a consequence of nonsense-mediated mRNA decay."<ref name=":2" /> <ref>{{Cite web | url = https://reference.medscape.com/medline/abstract/10796876 | title = Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). | last = Schwarze | first = U | last2 = Atkinson | first2 = M | date = |website=reference.medscape.com| publisher = Medscape|url-access=registration|issn=| archive-url = | archive-date = |url-status = | access-date=2018-10-06 | last3 = Hoffman | first3 = GG | last4 = Greenspan | first4 = DS | last5 = Byers | first5 = PH}}</ref> Kyphoscoliotic (type VI) is characterized by generalized joint laxity, skin fragility, and severe muscle hypotonia at birth. It is [https://medlineplus.gov/ency/article/002052.htm autosomal recessive] (AR), both parents with defective genes are needed to pass on this form of EDS. More than 20 mutations are identified in the LH1 gene that contributes to LH deficiency and clinical EDS type VI.<ref name=":2" /><ref>{{Cite web | url = https://reference.medscape.com/medline/abstract/11001813 | title = Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. | last = Yeowell | first = HN | last2 = Walker | first2 = LC | date = |website=reference.medscape.com| publisher = Medscape|url-access=registration|issn=1096-7192| archive-url = | archive-date = |url-status = | access-date=2018-10-06}}</ref> [[Impaired wound healing]] is a typical feature of EDS.<ref name=":2" /> Pediatric patients have deficiencies in three genes of glutathione S-transferase family (''GSTM1, GSTT1, GSTP1'').<ref name=":2" /><ref>{{Cite web | url = https://reference.medscape.com/medline/abstract/18683505 | title = Polymorphism of detoxification genes and cell resistance to mutagens in patients with Ehlers-Danlos syndrome. | last = Kuz'mina | first = NS | last2 = Shipaeva | first2 = EV | date = |website=reference.medscape.com| publisher = Medscape|url-access=registration|issn=0007-4888| archive-url = | archive-date = |url-status = | access-date=2018-10-06 | last3 = Semyachkina | first3 = AN | last4 = Vasil'eva | first4 = IM | last5 = Kovalenko | first5 = LP | last6 = Durnev | first6 = LP | last7 = Zasukhina | first7 = GD}}</ref> Reduced activity of beta4GalT-7 is associated with the progeriform (causing children to age rapidly) EDS.<ref name=":2" /> "Biallelic mutations in ''FKBP14'' may result in a recessive form of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, hearing loss, and, possibly, an increased risk for vascular complications."<ref name=":2" /><ref>{{Cite web | url = https://reference.medscape.com/medline/abstract/24677762 | title = FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications. | last = Murray | first = ML | last2 = Yang | first2 = M | date = |website=reference.medscape.com| publisher = Medscape|url-access=registration|issn=| archive-url = | archive-date = |url-status = | access-date=2018-10-06 | last3 = Frauth | first3 = C | last4 = Byers | first4 = PH}}</ref> An ''[https://www.ehlers-danlos.com/eds-types/#chart EDS Types Chart]''<ref>{{Cite news |url =https://www.ehlers-danlos.com/eds-types/#chart | title = The Types of EDS | last = | first = | date = |work=The Ehlers Danlos Society|access-date=2018-10-06| archive-url = | archive-date = |url-status = | at=EDS Types Chart|language=en-US}}</ref> with AD/AR inheritance pattern (IP), genetic basis, and protein involved are provided by [https://www.ehlers-danlos.com/ The Ehlers Danlos Society].
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