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Abnormal circulating beta-C-terminal telopeptide concentration

MedGen UID:
1623048
Concept ID:
C4531130
Finding
Synonyms: Abnormal circulating beta-C-terminal telopeptide level; Abnormal circulating beta-CrossLaps level; Abnormal circulating beta-CTx level
 
HPO: HP:0031424

Definition

A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating beta-C-terminal telopeptide concentration

Conditions with this feature

Tall stature-scoliosis-macrodactyly of the great toes syndrome
MedGen UID:
863127
Concept ID:
C4014690
Disease or Syndrome
Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis (Miura et al., 2014). Multiple extra epiphyses are present in the hands (Boudin et al., 2018). Mutation in the NPR3 gene (108962) results in Boudin-Mortier syndrome (BOMOS; 619543), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses.

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