Multiple osteochondromas
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EXT1/EXT2-CDG Multiple cartilaginous exostoses Bessel-Hagen disease |
| Number of Symptoms | 48 |
| OrphanetNr: | 321 |
| OMIM Id: |
133700
133701 600209 |
| ICD-10: |
Q78.6 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation-related bone disorder
-Rare developmental defect during embryogenesis -Rare genetic disease Disorder of O-xylosylglycan synthesis -Rare genetic disease Genetic bone tumor -Rare genetic disease Primary bone dysplasia with disorganized development of skeletal components -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare bone tumor -Rare bone disease -Rare oncologic disease |
Symptom Information:
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0006824) | Cranial nerve paralysis | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0007256) | Abnormal pyramidal signs | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0003406) | Peripheral nerve compression | 3 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Occasional [Orphanet] | 123 / 7739 | |||
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(HPO:0002653) | Bone pain | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0000896) | Rib exostoses | 4 / 7739 | ||||
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(HPO:0002823) | Abnormality of the femur | Frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000918) | Scapular exostoses | 4 / 7739 | ||||
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(HPO:0002983) | Micromelia | Frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0100769) | Synovitis | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Very frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0100777) | Exostoses | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0002797) | Osteolysis | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0100240) | Synostosis of joints | Occasional [Orphanet] | 11 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0002763) | Abnormal cartilage morphology | Very frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0002758) | Osteoarthritis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0010622) | Neoplasm of the skeletal system | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0006765) | Chondrosarcoma | 5 / 7739 | ||||
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(HPO:0003067) | Madelung deformity | Frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0003276) | Pelvic bone exostoses | 4 / 7739 | ||||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0003105) | Protuberances at ends of long bones | 3 / 7739 | ||||
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(HPO:0010885) | Aseptic necrosis | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0003068) | Madelung-like forearm deformities | 3 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] frequent [HPO] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0002617) | Aneurysm | Occasional [Orphanet] | 34 / 7739 | |||
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(HPO:0001697) | Abnormality of the pericardium | Occasional [Orphanet] | 52 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002318) | Cervical myelopathy | 10 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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