KEGG   DISEASE: Lysyl hydroxylase 3 (LH3) deficiencyHelp
Entry
H01192                      Disease                                

Name
Lysyl hydroxylase 3 (LH3) deficiency;
Bone fragility with contractures arterial rupture and deafness
Description
Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01192  Lysyl hydroxylase 3 (LH3) deficiency
BRITE hierarchy
Pathway
hsa00310  Lysine degradation
hsa00514  Other types of O-glycan biosynthesis
Gene
PLOD3 [HSA:8985] [KO:K13646]
Other DBs
MeSH: C567320
OMIM: 612394
Reference
  Authors
Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R
  Title
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
  Journal
Am J Hum Genet 83:495-503 (2008)
DOI:10.1016/j.ajhg.2008.09.004

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