osteogenesis imperfecta type 17
Findings
No curated finding names osteogenesis imperfecta type 17 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 SPARC gene.
Definition from the Mondo Disease Ontology (MONDO:0014672), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- KyphoscoliosisHPOHP:0002751
- 2 of 2 reported patients
- OsteoporosisHPOHP:0000939
- 2 of 2 reported patients
- Recurrent fracturesHPOHP:0002757
- 2 of 2 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 2 of 2 reported patients
- Vertebral compression fractureHPOHP:0002953
- 2 of 2 reported patients
- Bowed humerusHPOHP:0003865
Show the remaining 10
- Intraventricular hemorrhageHPOHP:0030746
- 1 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 2 reported patients
- PlatyspondylyHPOHP:0000926
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- Soft skinHPOHP:0000977
- 1 of 2 reported patients
- SyringomyeliaHPOHP:0003396
- 1 of 2 reported patients
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.
- SPARCHGNC:11219
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Illumina · Autosomal recessive · 2019
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 17
- Also called
- OI17osteogenesis imperfecta caused by mutation in SPARCSPARC osteogenesis imperfecta