Osteogenesis imperfecta type 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Severe osteogenesis imperfecta OI type 3 Progressive deforming osteogenesis imperfecta |
| Number of Symptoms | 27 |
| OrphanetNr: | 216812 |
| OMIM Id: |
259420
259440 610682 610915 613848 613982 614856 615220 |
| ICD-10: |
Q78.0 |
| UMLs: |
C0268362 |
| MeSH: |
C536044 |
| MedDRA: |
|
| Snomed: |
385483009 |
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 Rare disease with dentinogenesis imperfecta -Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0005758) | Basilar impression | 6 / 7739 | ||||
|
|
(HPO:0002645) | Wormian bones | 65 / 7739 | ||||
|
|
(HPO:0000703) | Dentinogenesis imperfecta | 18 / 7739 | ||||
|
|
(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
|
(HPO:0000260) | Wide anterior fontanel | 55 / 7739 | ||||
|
|
(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
|
|
(HPO:0005474) | Decreased calvarial ossification | 8 / 7739 | ||||
|
|
(HPO:0000325) | Triangular face | 91 / 7739 | ||||
|
|
(HPO:0002691) | Platybasia | 10 / 7739 | ||||
|
|
(HPO:0000592) | Blue sclerae | 85 / 7739 | ||||
|
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(HPO:0000707) | Abnormality of the nervous system | 61 / 7739 | ||||
|
|
(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
|
|
(HPO:0005897) | Severe generalized osteoporosis | 4 / 7739 | ||||
|
|
(HPO:0002757) | Recurrent fractures | 47 / 7739 | ||||
|
|
(HPO:0002982) | Tibial bowing | 36 / 7739 | ||||
|
|
(HPO:0003100) | Slender long bone | 45 / 7739 | ||||
|
|
(HPO:0005855) | Multiple prenatal fractures | 10 / 7739 | ||||
|
|
(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
|
|
(HPO:0000765) | Abnormality of the thorax | 64 / 7739 | ||||
|
|
(HPO:0003023) | Bowing of limbs due to multiple fractures | 6 / 7739 | ||||
|
|
(HPO:0004586) | Biconcave vertebral bodies | 15 / 7739 | ||||
|
|
(HPO:0003179) | Protrusio acetabuli | 37 / 7739 | ||||
|
|
(HPO:0008921) | Neonatal short-limb short stature | 12 / 7739 | ||||
|
|
(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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