Xanthoma disseminatum
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Montgomery syndrome |
| Number of Symptoms | 4 |
| OrphanetNr: | 158003 |
| OMIM Id: |
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| ICD-10: |
D76.3 |
| UMLs: |
C0043322 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
399970005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-Langerhans cell histiocytosis
-Rare skin disease |
Symptom Information:
|
|
(HPO:0011830) | Abnormality of oral mucosa | Frequent [Orphanet] | 47 / 7739 | |||
|
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(HPO:0000873) | Diabetes insipidus | Frequent [Orphanet] | 34 / 7739 | |||
|
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
|
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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