ORPHA:637
Full NF2-related schwannomatosis
Synonyms: Full NF2 · Full neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis · Nonmosaic neurofibromatosis type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare inherited cancer-predisposing syndrome disorder characterized by the development of multiple schwannomas, meningiomas and ependymoma. Schwannomas typically affect both vestibular nerves but also other cranial and peripheral nerves, leading to tinnitus, hearing loss and balance dysfunction. Intradermal schwannomas and ocular involvement (cataract, retinal hamartoma) are also typical.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Full NF2-related schwannomatosis | Full NF2 · Full neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis · Nonmosaic neurofibromatosis type 2 |
| fr | Schwannomatose liée à NF2 germinale | NF2 germinale · NF2 non mosaïque · Neurinome de l'acoustique familial germinal · Neurofibromatose type 2 germinale · Neurofibromatose type 2 non mosaïque · Neurome de l'acoustique familial germinal · Schwannomatose liée à NF2 non mosaïque · Schwannome vestibulaire familial germinal |
| de | Schwannomatose, NF2-assoziierte | Akustikusneurinom, bilaterales · NF2 · NF2-bedingte Schwannomatose · Neurofibromatose Typ 2 · Neurofibromatose, zentrale |
| es | Schwannomatosis completa asociada a NF2 | NF2 · Neurofibromatosis tipo 2 completa · Neurofibromatosis tipo 2 no mosaico |
| it | Schwannomatosi completa correlata a NF2 | NF2 completa · Neurofibromatosi completa tipo 2 · Neurofibromatosi tipo 2 non in mosaico · Schwannomatosi non in mosaico correlata a NF2 |
| nl | Volledige schwannomatose gerelateerd aan NF2 | Niet-mozaïsche NF2-gerelateerde schwannomatose · Niet-mozaïsche neurofibromatose type 2 · Volledige NF2 · Volledige neurofibromatose type 2 |
| pt | Schwanomatose de espectro clínico completo NF2-relacionada | NF2 de espectro clínico completo · Neurofibromatose central · Neurofibromatose tipo 2 não em mosaico · Schwanomatose não em mosaico NF2-relacionada |
| pl | Neurofibromatoza typu 2 | NF2 · Rodzinna szwannoma nerwu przedsionkowego · Rodzinny nerwiak nerwu słuchowego · Rodzinny nerwiak osłonkowy nerwu słuchowego · Pełna schwannomatoza związana z NF2 |
| cs | Neurofibromatóza, typ 2 | Bilaterální akustická neurofibromatóza · Centrální neurofibromatóza · NF2 |
| uk | Повний NF2-асоційований шванноматоз | Повний нейрофіброматоз 2 типу · Повний NF2 · Немозаїчний нейрофіброматоз типу 2 · Немозаїчний NF2-асоційований шванноматоз |
| zh | 神经纤维瘤病2型 | NF2 |
| tr | Nörofibromatoz tip 2 | NF2 |
Definition in:
2
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 | E | specific | validated |
| MONDO | 7039 | E | validated | |
| MeSH | D016518 | E | validated | |
| UMLS | C0027832 | 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:634518Neurofibromatosis/schwannomatosis
rare genetic diseases; rare neurological diseases; rare neoplastic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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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 | 20301380[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.78 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.56 / 100 000 | Finland | Value and class | Validated | 25354145[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
47 annotations · validated 2020-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030430 | Neuroma | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0009589 | Bilateral vestibular schwannoma | |
| HP:0100963 | Hyperesthesia | |
| HP:0100009 | Intracranial meningioma | |
| HP:0002858 | Meningioma | |
| HP:0002196 | Myelopathy | |
| HP:0009593 | Peripheral schwannoma | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0010302 | Spinal cord tumor | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000646 | Amblyopia | |
| HP:0000618 | Blindness | |
| HP:0002512 | Brain stem compression | |
| HP:0100019 | Cortical cataract | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002888 | Ependymoma | |
| HP:0100014 | Epiretinal membrane | |
| HP:0010628 | Facial palsy | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001269 | Hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0002354 | Memory impairment | |
| HP:0009831 | Mononeuropathy | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0001271 | Polyneuropathy | |
| HP:0002172 | Postural instability | |
| HP:0009594 | Retinal hamartoma | |
| HP:0001250 | Seizure | |
| HP:0000763 | Sensory neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0100010 | Spinal meningioma | |
| HP:0000360 | Tinnitus | |
| HP:0002317 | Unsteady gait | |
| HP:0000572 | Visual loss | |
| HP:0031189 | Wrist drop | |
| Very rare (<4-1%) | ||
| HP:0002381 | Aphasia | |
| HP:0009592 | Astrocytoma | |
| HP:0009733 | Glioma | |
| HP:0007968 | Remnants of the hyaloid vascular system | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301380[PMID]_26073919[PMID]_28720529[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/637
- This record as JSON: /data/d/637.json