Osteogenesis imperfecta type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OI type 4 |
| Number of Symptoms | 14 |
| OrphanetNr: | 216820 |
| OMIM Id: |
166220
259440 610682 613849 615066 615220 |
| ICD-10: |
Q78.0 |
| UMLs: |
C0268363 |
| MeSH: |
C536045 |
| MedDRA: |
|
| Snomed: |
205497004 |
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:0002645) | Wormian bones | 65 / 7739 | ||||
|
|
(HPO:0000703) | Dentinogenesis imperfecta | 18 / 7739 | ||||
|
|
(HPO:0000592) | Blue sclerae | 10% [HPO:skoehler] | 85 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(HPO:0000362) | Otosclerosis | 10 / 7739 | ||||
|
|
(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
|
|
(HPO:0004349) | Reduced bone mineral density | 165 / 7739 | ||||
|
|
(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
|
|
(HPO:0002757) | Recurrent fractures | 47 / 7739 | ||||
|
|
(HPO:0005005) | Femoral bowing present at birth, straightening with time | 2 / 7739 | ||||
|
|
(HPO:0003321) | Biconcave flattened vertebrae | 5 / 7739 | ||||
|
|
(HPO:0003023) | Bowing of limbs due to multiple fractures | 6 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|