Isolated melanotic schwannoma
Synonyms: Isolated melanocytic schwannoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated melanotic schwannoma | Isolated melanocytic schwannoma |
| fr | Schwannome mélanotique isolé | Schwannome mélanocytaire isolé |
| de | Schwannom, isoliertes melanotisches | Isoliertes melanozytäres Schwannom |
| es | Schwannoma melanótico aislado | Schwannoma melanocítico aislado |
| it | Schwannoma melanotico isolato | Schwannoma melanocitico isolato |
| nl | Geïsoleerd melanotisch schwannoom | Geïsoleerd melanocytair schwannoom |
| pt | Schwanoma melanótico isolado | Schwanoma melanocítico isolado |
| pl | Barwnikowy nerwiak osłonkowy, izolowany | = en |
| cs | Izolovaný melanocytární schwannom | = en |
| uk | Ізольована меланотична шваннома | Ізольована меланоцитарна шваннома |
| zh | Isolated melanotic schwannoma | = en |
| tr | Isolated melanotic schwannoma | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D36.1 | NTBT | attributed | validated |
| ICD-11 | 2A02.1Y | NTBT | attributed | validated |
| MONDO | 0035136 | E | validated | |
| UMLS | C1306247 | 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:252131Benign peripheral nerve sheath tumor
rare neurological diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | 33088497[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 33088497[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/590539
- This record as JSON: /data/d/590539.json