Mosaic NF2-related schwannomatosis
Synonyms: MNF2 · Mosaic NF2 · Mosaic neurofibromatosis type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic NF2-related schwannomatosis | MNF2 · Mosaic NF2 · Mosaic neurofibromatosis type 2 |
| fr | Schwannomatose liée à NF2 mosaïque | NF2 mosaïque · Neurofibromatose 2 mosaïque · Neurofibromatose type 2 mosaïque |
| de | Mosaik-Schwannomatose, NF2-assoziierte | MNF2 · Mosaik-NF2 · Mosaik-NF2-bedingte Schwannomatose · Mosaik-Neurofibromatose Typ 2 |
| es | Schwannomatosis en mosaico asociada al gen NF2 | MNF2 · Neurofibromatosis tipo 2 en mosaico |
| it | Schwannomatosi in mosaico correlata a NF2 | MNF2 · NF2 in mosaico · Neurofibromatosi in mosaico tipo 2 |
| nl | Mozaïek NF2-gerelateerde schwannomatose | MNF2 · Mozaïek NF2 · Mozaïek neurofibromatose type 2 |
| pt | Schwanomatose em mosaico NF2-relacionada | MNF2 · NF2 em mosaico · Neurofibromatose em mosaico tipo 2 |
| pl | Mozaikowa postać schwannomatozy związanej z NF2 | = en |
| cs | Mozaiková forma schwannomatózy asociovaná s NF2 | = en |
| uk | Мозаїчний NF2-асоційований шванноматоз | MNF2 · Мозаїчний нейрофіброматоз типу 2 · Мозаїчний NF2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101000 | NTBT | validated | |
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD2D.11 | NTBT | attributed | validated |
| MONDO | 0859764 | E | validated | |
| UMLS | C5816778 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7773 | ENSG00000186575 | 607379 | 22q12.2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | 35674741[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 35674741[PMID]_ORPHANET |
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/634475
- This record as JSON: /data/d/634475.json