Ehlers-Danlos syndrome 6

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Ehlers-Danlos syndrome 62016-11-25T19:08:49+00:00

Ehlers-Danlos syndrome 6 

MOLECULAR MEDICINE

Definition A form (OMIM:225400) of Ehlers-Danlos syndrome*.

*A connective tissue disorder characterised by generalised joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis at birth, ocular manifestations–e.g., myopia, conjunctival and eyelid haematomas, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development. 

Molecular pathology Defects of PLOD1, which encodes an enzyme* that hydroxylates lysyl residues in collagen-like peptides, providing attachment sites for carbohydrates in collagen and thus are critical for intermolecular crosslink stability, cause Ehlers-Danlos syndrome 6.

*Procollagen-lysine—2-oxoglutarate 5-dioxygenase 1 

Synonyms Ehlers-Danlos syndrome—kyphoscoliotic type, Ehlers-Danlos syndrome—ocular scoliotic type, NEVO syndrome 

References http://www.uniprot.org/uniprot/Q02809

http://www.omim.org/entry/225400

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