Familial progressive hyperpigmentation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Melanosis diffusa congenita Melanosis universalis hereditaria Universal melanosis |
| Number of Symptoms | 8 |
| OrphanetNr: | 79146 |
| OMIM Id: |
145250
155800 614233 |
| 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 [Orphanet] |
| Age of onset: |
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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:0001053) | Hypopigmented skin patches | 80 / 7739 | ||||
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(HPO:0001045) | Vitiligo | rare [HPO:skoehler] | 13 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | 216 / 7739 | ||||
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(HPO:0007505) | Progressive hyperpigmentation | 2 / 7739 | ||||
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(HPO:0001034) | Hypermelanotic macule | 22 / 7739 | ||||
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(HPO:0000957) | Cafe-au-lait spot | 84 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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