Familial generalized lentiginosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial multiple lentigines syndrome without systemic involvement Familial lentigines profusa |
| Number of Symptoms | 3 |
| OrphanetNr: | 231040 |
| OMIM Id: |
150900
151001 |
| ICD-10: |
L81.4 |
| 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 Unknown [Orphanet] |
| Age of onset: |
All ages [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:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | 147 / 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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