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Task D-001 · Type D — Disease → mechanism
By what molecular mechanism does the ACVR1 mutation in fibrodysplasia ossificans progressiva lead to heterotopic ossification?
Difficulty
medium
Rarity stratum
sparse
Evidence type
primary_research
MONDO ID
MONDO:0007606
Curator notes
pubmed:41471105 describes the downstream SMAD1/5/9 pathway activation specifically; pubmed:18328989 establishes the ACVR1/ALK2 mutation itself — a complete mechanistic answer requires synthesizing both documents, a genuine multi-document synthesis test, not a single-document lookup.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000395
Claims
3
Supported
3
Contradicted
0
Unverifiable
0
Gold documents (2)
- Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.
- Fibrodysplasia ossificans progressiva.
Retrieved documents (6)
- Fibrodysplasia ossificans progressiva (stone man syndrome): a case report.pubmed:31785620
- Fibrodysplasia Ossificans Progressiva: A Report of Four Cases.pubmed:35475090
- Fibrodysplasia ossificans progressiva.pubmed:18328989gold
- Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.pubmed:34440363
- Compound KTI-2338 Inhibits ACVR1 Receptor Signaling in Fibrodysplasia Ossificans Progressiva.pubmed:41471105gold
- Fibrodysplasia ossificans progressiva in a 3-year-old female patient.pubmed:36867574
Generated claims (3)
supportedconfidence 0.95
The ACVR1 mutation leads to constitutive overactivation of the ALK2 receptor.
pubmed:41471105
supportedconfidence 0.95
This overactivation results in aberrant activation of the SMAD1/5/9 pathway.
pubmed:41471105
supportedconfidence 0.95
The aberrant activation of the SMAD1/5/9 pathway drives the formation of heterotopic ossification.
pubmed:41471105