Autosomal dominant osteopetrosis type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I OPTA1 |
| Number of Symptoms | 14 |
| OrphanetNr: | 2783 |
| OMIM Id: |
607634
|
| ICD-10: |
Q78.2 |
| UMLs: |
C2931097 |
| MeSH: |
C536056 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 33 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Osteopetrosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0002684) | Thickened calvaria | 32 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | 164 / 7739 | ||||
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(HPO:0002315) | Headache | 175 / 7739 | ||||
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(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
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(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
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(HPO:0005789) | Generalized osteosclerosis | 10 / 7739 | ||||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Variable sclerosis | 1 / 7739 | ||||
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(OMIM) | No increased fracture rate | 1 / 7739 | ||||
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(OMIM) | No endobones | 1 / 7739 | ||||
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(OMIM) | Pronounced calvarial sclerosis | 1 / 7739 | ||||
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(OMIM) | Normal serum acid phosphatase | 1 / 7739 | ||||
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(OMIM) | No 'rugger-jersey spine' | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis type I is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients ... |
| Clinical Description OMIM |
Andersen and Bollerslev (1987) suggested that autosomal dominant osteopetrosis has 2 distinct radiologic types. Both have universal osteosclerosis, but in type I, the most striking finding is pronounced sclerosis of the cranial vault while the spine is almost ... |
| Molecular genetics OMIM |
Van Wesenbeeck et al. (2003) identified a mutation in the LRP5 gene in the Danish families with type I autosomal dominant osteopetrosis used by Van Hul et al. (2002) to map the phenotype to 11q12-q13 (see 603056.0018); they ... |