EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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OMIM Id:
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131880
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ICD-10:
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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 inheritance
[Omim]
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Age of onset:
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Infantile onset
[Omim]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0008066)
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Abnormal blistering of the skin |
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20 / 7739
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2
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(HPO:0003593)
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Infantile onset |
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249 / 7739
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3
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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4
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(OMIM)
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Early onset, non-scarring epidermolysis bullosa |
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1 / 7739
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5
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(OMIM)
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Galactosylhydroxylysyl glucosyltransferase deficiency |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |