CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION
General Information (adopted from Orphanet):
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Synonyms, Signs:
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FAMILIAL APATITE DISEASE
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Number of Symptoms
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14
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OrphanetNr:
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OMIM Id:
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118610
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0006646)
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Costal cartilage calcification |
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3 / 7739
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2
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(HPO:0005645)
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Intervertebral disk calcification |
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2 / 7739
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3
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(HPO:0000934)
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Chondrocalcinosis |
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13 / 7739
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4
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(HPO:0003040)
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Arthropathy |
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19 / 7739
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5
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(HPO:0006649)
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Costochondral pain |
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1 / 7739
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6
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(HPO:0004268)
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Osteoarthritis of the small joints of the hand |
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2 / 7739
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7
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(OMIM)
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Calcium hydroxyapatite crystals in joints |
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1 / 7739
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8
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(OMIM)
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Dorsolumbar spine pain and limitation of motion |
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1 / 7739
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9
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(OMIM)
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Morning stiffness |
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1 / 7739
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10
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(OMIM)
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Periarticular calcific deposits |
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1 / 7739
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11
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(OMIM)
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Arthritis of small hand joints |
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1 / 7739
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12
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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13
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(OMIM)
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Shoulder periarthritis |
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1 / 7739
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14
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(OMIM)
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Normal |
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14 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |