osteogenesis imperfecta type 13
Findings
No curated finding names osteogenesis imperfecta type 13 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 BMP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013924), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
35 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.
- ArachnodactylyHPOHP:0001166
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Femoral bowingHPOHP:0002980
- 2 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- OsteoporosisHPOHP:0000939
- 2 of 2 reported patients
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Reduced bone mineral densityHPOHP:0004349
Show the remaining 23
- Blue scleraeHPOHP:0000592
- 1 of 2 reported patients
- Broad foreheadHPOHP:0000337
- 1 of 2 reported patients
- Enlarged thoraxHPOHP:0100625
- 1 of 2 reported patients
- Enuresis nocturnaHPOHP:0010677
- 1 of 2 reported patients
- Generalized hirsutismHPOHP:0002230
- 1 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 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.
- BMP1HGNC:1067
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: osteogenesis imperfecta type 13
- Also called
- BMP1 osteogenesis imperfectaOI13osteogenesis imperfecta caused by mutation in BMP1