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Elevated circulating deoxypyridinoline concentration

MedGen UID:
1773211
Concept ID:
C5421645
Finding
HPO: HP:0033154

Definition

An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating deoxypyridinoline concentration

Conditions with this feature

Osteogenesis imperfecta type 6
MedGen UID:
481194
Concept ID:
C3279564
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).

Recent clinical studies

Etiology

MacLeod JM, McHardy KC, Harvey RD, Duncan A, Reid IW, Bewsher PD, Robins SP
Clin Endocrinol (Oxf) 1993 Jan;38(1):49-53. doi: 10.1111/j.1365-2265.1993.tb00972.x. PMID: 8435885

Diagnosis

Kawaguchi T, Inamo Y
Mod Rheumatol Case Rep 2023 Jan 3;7(1):60-64. doi: 10.1093/mrcr/rxac055. PMID: 35792508

Therapy

MacLeod JM, McHardy KC, Harvey RD, Duncan A, Reid IW, Bewsher PD, Robins SP
Clin Endocrinol (Oxf) 1993 Jan;38(1):49-53. doi: 10.1111/j.1365-2265.1993.tb00972.x. PMID: 8435885

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