Myalgia-eosinophilia syndrome associated with tryptophan
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
10
|
OrphanetNr:
|
2582
|
OMIM Id:
|
|
ICD-10:
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M35.8
|
UMLs:
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C1275050
|
MeSH:
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D016603
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MedDRA:
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|
Snomed:
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403735006
|
Prevalence, inheritance and age of onset:
Prevalence:
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No data available.
|
Inheritance:
|
[Orphanet]
|
Age of onset:
|
All ages
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
Rare systemic disease
-Rare systemic or rheumatologic disease
|
|
|
|
|
|
|
|
|
1
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
2
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
3
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
4
|
(HPO:0001025)
|
Urticaria |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
5
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
6
|
(HPO:0001879)
|
Abnormality of eosinophils |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
7
|
(HPO:0001888)
|
Lymphopenia |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
8
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
9
|
(HPO:0002103)
|
Abnormality of the pleura |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
10
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |