Eosinophilic fasciitis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Diffuse fasciitis with eosinophilia Shulman syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 3165 |
| OMIM Id: |
226350
|
| ICD-10: |
M35.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10014954 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 200 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Idiopathic inflammatory myopathy
-Rare neurologic disease Rare systemic disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
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(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0100769) | Synovitis | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001063) | Acrocyanosis | Very frequent [Orphanet] | 56 / 7739 | |||
|
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
|
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(HPO:0001879) | Abnormality of eosinophils | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0000969) | Edema | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0100748) | Muscular edema | Very frequent [Orphanet] | 2 / 7739 | |||
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(HPO:0100614) | Myositis | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
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(HPO:0003549) | Abnormality of connective tissue | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0100537) | Fasciitis | Occasional [Orphanet] | 2 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0045029) | Eosinophilic fasciitis | 1 / 7739 | ||||
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(OMIM) | Stiff skin | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Occasional [Orphanet] | 64 / 7739 | |||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(MedDRA:10014954) | Eosinophilic fasciitis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|