Neurofibromatosis type 6
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NF6 Multiple café-au-lait spots Familial café-au-lait spots Multiple café-au-lait syndrome |
| Number of Symptoms | 7 |
| OrphanetNr: | 2678 |
| OMIM Id: |
114030
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| ICD-10: |
L81.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic hyperpigmentation of the skin
-Rare genetic disease Hyperpigmentation of the skin -Rare skin disease |
Symptom Information:
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(HPO:0009737) | Lisch nodules | 10 / 7739 | ||||
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(HPO:0007565) | Multiple cafe-au-lait spots | 11 / 7739 | ||||
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(HPO:0000957) | Cafe-au-lait spot | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0007587) | Numerous pigmented freckles | Occasional [Orphanet] | 22 / 7739 | |||
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(OMIM) | No neurofibromas | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | No Lisch nodules of the iris | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Multiple cafe-au-lait spots, which are the diagnostic hallmark of neurofibromatosis I (NF1; 162200), have been observed in families in which there have been no other changes of NF1 (Riccardi, 1980). The absence of neurofibromas and Lisch nodules of ... |