Myalgia-eosinophilia syndrome associated with tryptophan
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myalgia-eosinophilia syndrome associated with tryptophan | |
| fr | Syndrome d'éosinophilie-myalgies lié au tryptophane | |
| de | Myalgie, eosinophile, Tryptophan-assoziierte | Eosinophilie-Myalgie-Syndrom durch Tryptophan-Zufuhr |
| es | Síndrome de mialgia-eosinofilia ligado al triptófano | |
| it | Sindrome da mialgia ed eosinofilia correlata al triptofano | |
| nl | Myalgie - eosinofilie-syndroom geassocieerd met tryptofaan | |
| pt | Síndrome de mialgia-eosinofilia associada ao triptofano | |
| pl | Zespół mialgia-eozynofilia wywołany tryptofanem | |
| cs | Syndrom zahrnující eozinofilii a myalgii, související s tryptofanem | |
| uk | Синдром міалгії-еозинофілії, повязаний з триптофаном | |
| zh | 色氨酸相关性肌痛-嗜酸性粒细胞增多综合征 | |
| tr | Triptofan -ilişkili miyalji-eozinofili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.8 | NTBT | index | validated |
| ICD-11 | 4A43.Y | NTBT | index | validated |
| MONDO | 0016822 | E | validated | |
| MeSH | D016603 | E | validated | |
| UMLS | C1275050 | E | validated | |
| MedDRA | 10014952 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:556508Rare disorder due to poisoning
rare disorders due to toxic effects - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_21702023[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0005469 | Flat occiput | |
| HP:0001880 | Increased total eosinophil count | |
| Frequent (79-30%) | ||
| HP:0002103 | Abnormality of the pleura | |
| HP:0001369 | Arthritis | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001888 | Lymphopenia | |
| HP:0001072 | Thickened skin | |
| HP:0001025 | Urticaria | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2582
- This record as JSON: /data/d/2582.json