Butterfly-shaped pigment dystrophy
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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99001
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OMIM Id:
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169150
608970
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ICD-10:
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H35.5
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Patterned dystrophy of the retinal pigment epithelium
-Rare eye disease
-Rare genetic disease
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1
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(HPO:0007754)
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Macular dystrophy |
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26 / 7739
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2
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(HPO:0000613)
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Photophobia |
rare [HPO:skoehler]
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158 / 7739
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3
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(HPO:0007913)
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Reticular retinal dystrophy |
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2 / 7739
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4
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(HPO:0000662)
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Nyctalopia |
rare [HPO:skoehler]
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92 / 7739
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5
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(HPO:0012508)
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Metamorphopsia |
rare [HPO:skoehler]
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3 / 7739
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6
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |