Osteogenesis imperfecta type 1

General Information (adopted from Orphanet):

Synonyms, Signs: Non-deforming osteogenesis imperfecta
OI type 1
Mild osteogenesis imperfecta
Van der Hoeve syndrome
Adair-Dighton syndrome
Number of Symptoms 17
OrphanetNr: 216796
OMIM Id: 166200
166230
ICD-10: Q78.0
UMLs:
MeSH:
MedDRA:
Snomed: 385482004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Osteogenesis imperfecta
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002645) Wormian bones 65 / 7739
2
 (HPO:0000703) Dentinogenesis imperfecta Rare [HPO:probinson] 18 / 7739
3
 (HPO:0000592) Blue sclerae 85 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0000362) Otosclerosis 10 / 7739
6
 (HPO:0002757) Recurrent fractures 47 / 7739
7
 (HPO:0002659) Increased susceptibility to fractures 110 / 7739
8
 (HPO:0002980) Femoral bowing 36 / 7739
9
 (HPO:0000938) Osteopenia 138 / 7739
10
 (HPO:0003321) Biconcave flattened vertebrae 5 / 7739
11
 (HPO:0001382) Joint hypermobility 231 / 7739
12
 (HPO:0001507) Growth abnormality 36 / 7739
13
 (HPO:0000963) Thin skin 96 / 7739
14
 (HPO:0000978) Bruising susceptibility 123 / 7739
15
 (HPO:0001634) Mitral valve prolapse 69 / 7739
16
 (HPO:0001724) Aortic dilatation 24 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: