Neurofibromatosis type 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NF3 Schwannomatosis Neurilemmomatosis |
| Number of Symptoms | 9 |
| OrphanetNr: | 93921 |
| OMIM Id: |
162091
162260 |
| ICD-10: |
Q85.0 |
| UMLs: |
C0917817 C1335929 |
| MeSH: |
C536641 |
| MedDRA: |
|
| Snomed: |
254240003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic hyperpigmentation of the skin
-Rare genetic disease Hyperpigmentation of the skin -Rare skin disease Inherited cancer-predisposing syndrome -Rare genetic disease -Rare oncologic disease Inherited nervous system cancer-predisposing syndrome -Rare neurologic disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0010302) | Spinal cord tumor | 5 / 7739 | ||||
|
|
(HPO:0002858) | Meningioma | 22 / 7739 | ||||
|
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(HPO:0100008) | Schwannoma | 6 / 7739 | ||||
|
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
|
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
|
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
|
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
|
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(HPO:0001428) | Somatic mutation | 100 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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