ORPHA:93921
Full schwannomatosis
Synonyms: Full NF3 · Full SWN · Full neurofibromatosis type 3 · Neurilemmomatosis · Nonmosaic schwannomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Full schwannomatosis | Full NF3 · Full SWN · Full neurofibromatosis type 3 · Neurilemmomatosis · Nonmosaic schwannomatosis |
| fr | Schwannomatose germinale | NF3 germinale · Neurilemmomatose · Neurofibromatose type3 germinale · Schwannomatose non mosaïque |
| de | Schwannomatose | NF3 · Neurilemmomatose · Neurofibromatose Typ 3 |
| es | Schwannomatosis completa | NF3 completa · Neurilemomatosis · Neurofibromatosis tipo 3 completa · SWN completa · Schwannomatosis sin mosaicismo |
| it | Schwannomatosi completa | NF3 completa · Neurilemmomatosi · Neurofibromatosi completa tipo 3 · SWN completa · Schwannomatosi non in mosaico |
| nl | Volledige schwannomatose | Neurilemmomatose · Niet-mozaïsche schwannomatose · Volledige NF3 · Volledige SWN · Volledige neurofibromatose type 3 |
| pt | Schwanomatose de espectro clínico completo | NF3 de espectro clínico completo · Neurilemomatose · Neurofibromatose tipo 3 de espectro clínico completo · SWN de espectro clínico completo · Schwanomatose não em mosaico |
| pl | Neurofibromatoza typu 3 | Neurilemmomatoza · NF3 · Schwannomatoza · Pełna schwannomatoza |
| cs | Neurofibromatóza, typ 3 | NF3 · Neurilemomatóza · Schwannomatóza |
| uk | Повний шваноматоз | Повний нейрофіброматоз типу 3 · Повний NF3 · Повний SWN · Нейрилеммоматоз · Немозаїчний шванноматоз |
| zh | 神经鞘瘤病 | 神经纤维瘤病3型 |
| tr | Schwannomatoz | NF3 · Nörilemmomatoz · Nörofibromatoz tip 3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162091 | E | validated | |
| OMIM | 162260 | BTNT | validated | |
| OMIM | 615670 | BTNT | validated | |
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD2D.1Y | NTBT | attributed | validated |
| MONDO | 0008075 | E | validated | |
| MONDO | 8075 | E | validated | |
| MeSH | C536641 | E | validated | |
| UMLS | C5779880 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:634518Neurofibromatosis/schwannomatosis
rare genetic diseases; rare neurological diseases; rare neoplastic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NF2 | Candidate gene tested in | Not yet assessed | HGNC:7773 | ENSG00000186575 | 607379 | 22q12.2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | 23401320[PMID] |
| SMARCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11103 | ENSG00000099956 | 601607 | 22q11.23 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | 17357086[PMID]_23401320[PMID] |
| COQ6 | Major susceptibility factor in | Assessed | HGNC:20233 | ENSG00000119723 | 614647 | 14q24.3 | coenzyme Q6, monooxygenase | 24763291[PMID] |
| LZTR1 | Major susceptibility factor in | Assessed | HGNC:6742 | ENSG00000099949 | 600574 | 22q11.21 | leucine zipper like post translational regulator 1 | 24362817[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_ISBN:3211695001[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.058 / 100 000 | Finland | Value and class | Validated | ISBN:3211695001[OTHER]_10636128[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.
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HPO phenotypes
21 annotations · validated 2023-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100008 | Schwannoma | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0012531 | Pain | |
| HP:0009593 | Peripheral schwannoma | |
| HP:0010302 | Spinal cord tumor | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000365 | Hearing impairment | |
| HP:0012032 | Lipoma | |
| HP:0410275 | Lumbosacral hemangioma | |
| HP:0001324 | Muscle weakness | |
| HP:0002664 | Neoplasm | |
| HP:0003401 | Paresthesia | |
| HP:0002650 | Scoliosis | |
| HP:0000360 | Tinnitus | |
| HP:0000131 | Uterine leiomyoma | |
| Very rare (<4-1%) | ||
| HP:0002380 | Fasciculations | |
| HP:0033748 | Hypoesthesia | |
| HP:0002858 | Meningioma | |
| HP:0011750 | Neoplasm of the anterior pituitary | |
| HP:0001250 | Seizure | |
| HP:0001621 | Weak voice | |
| Excluded (0%) | ||
| HP:0009589 | Bilateral vestibular schwannoma | Diagnostic criterion |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 35678462[PMID]_27759912[PMID]_22558206[PMID]_29517885[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93921
- This record as JSON: /data/d/93921.json