combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
MONDO:0030854Mondo
Findings
No curated finding names combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
15 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
- 12 of 12 reported patients
- Bruising susceptibilityHPOHP:0000978
- 2 of 2 reported patients
- Dermal translucencyHPOHP:0010648
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Hyperextensible skinHPOHP:0000974
- 2 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 17 of 17 reported patients
- Poor wound healingHPOHP:0001058
- 2 of 2 reported patients
- Recurrent fracturesHPOHP:0002757
- 12 of 12 reported patients
- Recurrent joint dislocationHPOHP:0031869
- 2 of 2 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 7 of 7 reported patients
- Short statureHPOHP:0004322
- 11 of 12 reported patients
- ScoliosisHPOHP:0002650
- 8 of 9 reported patients
Show the remaining 3
- Arterial ruptureHPOHP:0025019
- 1 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 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.
- COL1A1HGNC:2197
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- Also called
- OIEDS Syndrome 1OIEDS1