Osteogenesis imperfecta type 5

General Information (adopted from Orphanet):

Synonyms, Signs: OI type 5
Number of Symptoms 17
OrphanetNr: 216828
OMIM Id: 610967
610968
ICD-10: Q78.0
UMLs: C2931093
MeSH: C536046
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000703) Dentinogenesis imperfecta rare [HPO:skoehler] 18 / 7739
2
 (HPO:0002645) Wormian bones 65 / 7739
3
 (HPO:0000325) Triangular face 91 / 7739
4
 (HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
5
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
6
 (HPO:0000938) Osteopenia 138 / 7739
7
 (HPO:0008422) Vertebral wedging 7 / 7739
8
 (HPO:0000926) Platyspondyly 150 / 7739
9
 (HPO:0001382) Joint hypermobility rare [HPO:skoehler] 231 / 7739
10
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
11
 (HPO:0002757) Recurrent fractures 47 / 7739
12
 (HPO:0006394) Limited pronation/supination of forearm 4 / 7739
13
 (HPO:0005084) Anterior radial head dislocation 2 / 7739
14
 (HPO:0004322) Short stature 1232 / 7739
15
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (HPO:0030268) Hyperplastic callus formation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: