Adamantinoma
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 23 |
OrphanetNr: | 55881 |
OMIM Id: |
102660
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ICD-10: |
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UMLs: |
C1367554 |
MeSH: |
D050398 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 0.11 of 100 000 [Orphanet] |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic bone tumor
-Rare genetic disease Rare bone tumor -Rare bone disease -Rare oncologic disease |
Symptom Information:
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(HPO:0012062) | Bone cyst | Occasional [Orphanet] | 19 / 7739 | |||
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(HPO:0000940) | Abnormal diaphysis morphology | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Occasional [Orphanet] | 123 / 7739 | |||
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(HPO:0010622) | Neoplasm of the skeletal system | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Occasional [Orphanet] | 49 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0002823) | Abnormality of the femur | Occasional [Orphanet] | 61 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0002896) | Neoplasm of the liver | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0100526) | Neoplasm of the lung | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0002664) | Neoplasm | 111 / 7739 | ||||
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
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(OMIM) | Adamantinoma of long bones | 1 / 7739 | ||||
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(HPO:0030448) | Soft tissue sarcoma | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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