Multicentric reticulohistiocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Giant cell histiocytomatosis Lipoid dermatoarthritis |
| Number of Symptoms | 6 |
| OrphanetNr: | 139436 |
| OMIM Id: |
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| ICD-10: |
D76.3 |
| 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: | < 200 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-Langerhans cell histiocytosis
-Rare skin disease Systemic non-Langerhans cell histiocytosis -Rare systemic or rheumatologic disease |
Symptom Information:
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(HPO:0011830) | Abnormality of oral mucosa | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0004326) | Cachexia | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Occasional [Orphanet] | 859 / 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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