Tumoral calcinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 21 |
| OrphanetNr: | 53715 |
| OMIM Id: |
211900
610455 |
| ICD-10: |
M11.2 |
| UMLs: |
C0263628 |
| MeSH: |
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| MedDRA: |
10059364 |
| Snomed: |
61778004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skin tumor
-Rare genetic disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder -Rare genetic disease Rare parathyroid diseases and phosphocalcic metabolism disorder -Rare endocrine disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease Tumor of endocrine glands -Rare oncologic disease |
Symptom Information:
|
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(HPO:0000121) | Nephrocalcinosis | Occasional [Orphanet] | 57 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0000163) | Abnormality of the oral cavity | Occasional [Orphanet] | 37 / 7739 | |||
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(HPO:0000230) | Gingivitis | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0100774) | Hyperostosis | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0002754) | Osteomyelitis | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0100249) | Calcification of muscles | Very frequent [Orphanet] | 4 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0000988) | Skin rash | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0010783) | Erythema | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0002905) | Hyperphosphatemia | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Occasional [Orphanet] | 126 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|