osteogenesis imperfecta type 6
Findings
No curated finding names osteogenesis imperfecta type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013515), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue scleraeHPOHP:0000592
- 4 of 4 reported patients
- Bowing of the armHPOHP:0006488
- 4 of 4 reported patients
- Bowing of the legsHPOHP:0002979
- 4 of 4 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 4 of 4 reported patients
- Elevated circulating deoxypyridinoline concentrationHPOHP:0033154
- 2 of 2 reported patients
- Increased susceptibility to fracturesHPOHP:0002659
- 4 of 4 reported patients
- Motor delayHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SERPINF1HGNC:8824
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 6
- Also called
- OI6osteogenesis imperfecta caused by mutation in SERPINF1SERPINF1 osteogenesis imperfecta