Ehler Danlos syndrome is due to defect in?
Correct Answer: Collagen
Description: ANSWER: (B) CollagenREF: Robbins 8th ed ch: 3MAIN TYPES OF COLLAGENS, TISSUE DISTRIBUTION, AND GENETIC DISORDERSCollagenTypeTissue DistributionGenetic DisordersFIBRILLAR COLLAGENSIUbiquitous in hard and soft tissuesOsteogenesis imperfecta; Ehlers-Danlos syndrome--ar- throchalasias type 1IICartilage, intervertebral disk, vitreousAchondrogenesis type II, spondyloepiphysea dysplasia syndromeIIIHollow organs, soft tissuesVascular Ehlers-Danlos syndromeVSoft tissues, blood vesselsClassical Ehlers-Danlos syndromeIXCartilage, vitreousStickler syndromeBASEMENT MEMBRANE COLLAGENSIVBasement membranesAlport syndromeOTHER COLLAGENSVIUbiquitous in microfibrilsBethlem myopathyVIIAnchoring fibrils at dermal-epidermal junctionsDystrophic epidermolysis bullosaIXCartilage, intervertebral disksMultiple epiphyseal dysplasiasXVIITrans membrane collagen in epidermal cellsBenign atrophic generalized epidermolysis bullosa CollagenTypeTissue DistributionGenetic DisordersXV and XVIIIEndostatin-forming collagens, endothelial cellsKnobloch syndrome (type XVIII collagen)CLASSIFICATION OF EHLERS-DANLOS SYNDROMESEDS TypeClinical FindingsInheritanceGene DefectsClassical (I/II)Skin and joint hypermobility, atrophic scars, easy bruisingAutosomal dominantCOL5A1, COL5A2Hypermobility(III)Joint hypermobility, pain, dislocationsAutosomal dominantUnknowmVascular (IV)Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibilityAutosomal dominantCOL3A1Kyphoscoliosis(VI)Hypotonia, joint laxity, congenital scoliosis, ocular fragilityAutosomal recessiveLysyl hydroxylaseArthrochalasia (Vila, b)Severe joint hypermobility, skin changes (mild), scoliosis, bruisingAutosomal dominantCOL1A1, COL1A2Dermatosparax- sis (Vile)Severe skin fragility, cutis laxa, bruisingAutosomal recessiveProcollagen N-pepti- dase
Category:
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