osteogenesis imperfecta type 7
Findings
No curated finding names osteogenesis imperfecta type 7 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 CRTAP gene.
Definition from the Mondo Disease Ontology (MONDO:0012536), read 2026-09-29. CC BY 4.0.
- Onset and course
- Antenatal 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
- 8 of 8 reported patients
- Bowing of the legsHPOHP:0002979
- 8 of 8 reported patients
- Coxa varaHPOHP:0002812
- 8 of 8 reported patients
- Recurrent fracturesHPOHP:0002757
- 7 of 7 reported patients
- RhizomeliaHPOHP:0008905
- 8 of 8 reported patients
- Vertebral compression fractureHPOHP:0002953
- 8 of 8 reported patients
- ScoliosisHPOHP:0002650
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.
- CRTAPHGNC:2379
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 7
- Also called
- CRTAP osteogenesis imperfectaOI7osteogenesis imperfecta caused by mutation in CRTAP