osteogenesis imperfecta type 8
Findings
No curated finding names osteogenesis imperfecta type 8 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 P3H1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012581), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
27 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.
- Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
- Multiple prenatal fracturesHPOHP:0005855
- 5 of 5 reported patients · Fetal onset
- OsteopeniaHPOHP:0000938
- 5 of 5 reported patients
- Recurrent fracturesHPOHP:0002757
- 5 of 5 reported patients · Fetal onset
- Short metacarpalHPOHP:0010049
- 2 of 2 reported patients · Childhood onset
- Thin ribsHPOHP:0000883
- 5 of 5 reported patients · Fetal onset
Show the remaining 15
- ProptosisHPOHP:0000520
- 1 of 4 reported patients
- Round faceHPOHP:0000311
- 1 of 4 reported patients
- Barrel-shaped chestHPOHP:0001552
- 1 of 5 reported patients
- Femoral retroversionHPOHP:0008796
- 1 of 5 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 5 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 5 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.
- P3H1HGNC:19316
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 8
- Also called
- OI8osteogenesis imperfecta caused by mutation in P3H1P3H1 osteogenesis imperfecta