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Task D-006 · Type D — Disease → mechanism
By what mechanism do type I collagen gene mutations lead to the bone fragility seen in osteogenesis imperfecta?
Difficulty
medium
Rarity stratum
high
Evidence type
review consensus
MONDO ID
MONDO:0019019
Curator notes
None material.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000424
Claims
4
Supported
4
Contradicted
0
Unverifiable
0
Gold documents (2)
- Current Overview of Osteogenesis Imperfecta.
- Osteogenesis imperfecta.
Retrieved documents (6)
- Osteoclast indices in osteogenesis imperfecta: systematic review and meta-analysis.pubmed:39372603
- Radiographic features of osteogenesis imperfecta.pubmed:23686748
- Current Overview of Osteogenesis Imperfecta.pubmed:34068551gold
- Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.pubmed:36658750
- Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention.pubmed:35204988
- Osteogenesis imperfecta.pubmed:1580589
Generated claims (4)
supportedconfidence 0.95
Type I collagen gene mutations cause quantitative and/or qualitative abnormalities of type I collagen.
pubmed:35204988
supportedconfidence 0.95
Altered formation of collagen type I leads to decreased bone strength due to decreased quality and quantity of bone matrix and architecture.
pubmed:35204988
supportedconfidence 0.95
Alterations in osteoclasts contribute to OI pathophysiology, with increased collagen degradation markers observed in patients and mouse models of OI.
pubmed:39372603
supportedconfidence 0.95
Elevated osteoclast activity is associated with increased bone fragility in OI.
pubmed:39372603