osteogenesis imperfecta type 14
Findings
No curated finding names osteogenesis imperfecta type 14 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 TMEM38B gene.
Definition from the Mondo Disease Ontology (MONDO:0014029), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
19 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.
- Elevated circulating beta-CTX concentrationHPOHP:0031425
- 3 of 3 reported patients
- Femoral bowingHPOHP:0002980
- 2 of 8 reported patients · Antenatal onset
- 1 of 1 reported patient
- OsteopeniaHPOHP:0000938
- 8 of 8 reported patients
- OsteoporosisHPOHP:0000939
- 3 of 3 reported patients
- Slender long boneHPOHP:0003100
- 3 of 3 reported patients
- Thin bony cortexHPOHP:0002753
- 3 of 3 reported patients
- Recurrent fractures
Show the remaining 7
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 8 reported patients
- Short statureHPOHP:0004322
- 2 of 11 reported patients
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 3 reported patients
- Dentinogenesis imperfectaHPOHP:0000703
- 0 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 0 of 2 reported patients
- Wormian bonesHPOHP:0002645
- 0 of 3 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.
- TMEM38BHGNC:25535
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 14
- Also called
- OI14osteogenesis imperfecta caused by mutation in TMEM38BTMEM38B osteogenesis imperfecta