Ehlers danlos syndrome type 3 photos skin#

Mutations in the genes C1R and C1S cause this syndrome.

Follows the autosomal dominant pattern of inheritance.

Mutation of COL12A1 gene causes this kind of syndrome and it encodes the type XII collagen.

May follow either the autosomal dominant or autosomal recessive pattern of inheritance.

Gene product dermatan sulfate epimerase helps in production of glycosaminoglycan which fills the gaps in the connective tissues and provides stability.

Mutation of CHST14 encodes the enzyme carbohydrate sulfotransferase 14 that transfers sulfate groups between molecules.

Follows autosomal recessive inheritance pattern.

Genetic defects in the B4GALT6 and B4GALT7 genes are attributes of this syndrome.

Mutation of the gene SLC39A13 that encodes protein product solute carrier family, 39 members 13 means of transport zinc to the cells which is essential for healthy function of the connective tissues.

Mutation in the PRDM5 gene causes type 2 BCS and encodes the protein PR/SET domain five which in transcription factor in the regulation of protein synthesis.

Mutations in the ZNF469 gene causes type 1 BCS, Zinc finger protein, 469 acts as extranuclear regulator for collagen fiber synthesis.

Two types of BCS where each follows the autosomal recessive manner of inheritance.

FKBP14 gene encodes FK506 binding protein-14, but it does not have any specific function.

Enzyme is responsible for the conversion of amino acid lysine to hydrolysine (essential for the formation of cross-links between individual collagen chains).

Mutations in PLOD1 cause lower activity in enzymes like Procollagen-lysine, 2oxyglucorate 5-deoxygenase 1.

Mutations in the PLOD1 and FKBP14 genes cause this condition.

Follows autosomal recessive inheritance.

Separates short amino acid chains from procollagen molecules to form mature collagen.

Modification of collagen happens due to the enzyme that this gene encodes.

Result of mutations in the gene ADAMTS2.

Follows the pattern of autosomal dominant inheritance.

Mutations in the COL1A1 and COL1A2 genes cause this type of EDS.

Tenascin-x helps to regulate the stability of the bodyвЂ™s elastic fiber and maintains the incorruptibility of the frame in which the collagen is present.

A small number of people suffering from this syndrome have a deficiency of tenascin-x, the gene TNXB encodes this protein.

However, it follows an autosomal dominant inheritance pattern

There has not been much success in identifying the genes that cause this condition.

Strength of this collagen subtype is a result of cross-linking.

Type III collagen assemble to form long thin fibrils.

COе…ѓA1 encodes pro-alpha1(III)chain, three of these chains come together to form type III procollagen.Some reports state where two mutant genes affect the individual known as bi-allelic inheritance in medical terms.Usually, mutations in the COе…ѓA1 gene cause this type of EDS.One pro-alpha2(I)chain and two pro-alpha1(I)chain come together to form type 1 procollagen fibrils.Follows an autosomal recessive pattern of inheritance.Gene product is found outside the cell and helps to prevent corruption of the structure in which the collagen is present.Mutations in the gene TNXB causes classical like EDS.The final product becomes fibrils of type 1 collagen and also determines the width of the fibrils.Extracellular enzymes work on the procollagen resulting in the formation of a mature product.Three chains like proteins make up the procollagen.вЂProвЂ™ designation means that an enzyme has to act on the final product which makes the end product active.

COL5A1 conceals the protein pro-alpha1(V)chain & COL5A1 conceals the protein pro-alpha2(V)chain.Includes dominant inheritance pattern for mutation of COL5A1 & COL5A2 genes.Types of Ehlers Danlos SyndromeД¬auses of Ehlers Danlos Syndrome Classical

Ehlers danlos syndrome type 3 photos skin#

Joint hypermobility, tissue fragility, hyper skin extensibility, etc. However, the intensity in which it manifests itself varies from one individual to another. It is essential for skin elasticity, thus causing problems in the connective tissues.