Mosaic schwannomatosis
Synonyms: MNF3 · Mosaic SWN · Mosaic neurilemmomatosis · Mosaic neurofibromatosis type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic schwannomatosis | MNF3 · Mosaic SWN · Mosaic neurilemmomatosis · Mosaic neurofibromatosis type 3 |
| fr | Schwannomatose mosaïque | NF3 mosaïque · Neurilemmomatose mosaïque · Neurofibromatose 3 mosaïque · Neurofibromatose type 3 mosaïque · SWN mosaïque |
| de | Mosaik-Schwannomatose | MNF3 · Mosaik-Neurilemmomatose · Mosaik-Neurofibromatose Typ 3 · Mosaik-SWN |
| es | Schwannomatosis en mosaico | MNF3 · Neurilemomatosis en mosaico · Neurofibromatosis tipo 3 en mosaico · SWN en mosaico |
| it | Schwannomatosi in mosaico | MNF3 · Neurilemmomatosi in mosaico · Neurofibromatosi in mosaico tipo 3 · SWN in mosaico |
| nl | Mozaïek schwannomatose | Mozaïek neurilemmomatose · Mozaïek neurofibromatose type 3 · MNF3 · Mozaïek SWN |
| pt | Schwanomatose em mosaico | MNF3 · Neurilemomatose em mosaico · Neurofibromatose em mosaico tipo 3 · SWN em mosaico |
| pl | Mozaikowa postać schwannomatozy | = en |
| cs | Mozaiková forma schwannomatózy | = en |
| uk | Мозаїчний шванноматоз | MNF3 · Мозаїчний нейрилеммоматоз · Мозаїчний нейрофіброматоз типу 3 · Мозаїчний SWN |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| MONDO | 0859765 | E | validated | |
| UMLS | C5816779 | 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 (1):
- ORPHA:634518Neurofibromatosis/schwannomatosis
rare genetic diseases; rare neurological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 29909380[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.7928 / 100 000 | United Kingdom | Value and class | Validated | 29909380[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.4502 / 100 000 | United Kingdom | Value and class | Validated | 29909380[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/634492
- This record as JSON: /data/d/634492.json