MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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160570
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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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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:0003236)
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Elevated serum creatine phosphokinase |
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214 / 7739
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2
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(HPO:0008970)
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Scapulohumeral muscular dystrophy |
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4 / 7739
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3
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(HPO:0003198)
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Myopathy |
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151 / 7739
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4
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(OMIM)
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Excessive storage of glycosaminoglycans and glycoproteins in cultured fibroblasts |
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1 / 7739
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5
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(OMIM)
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Scattered sarcoplasmic vacuoles with storage of granular material on EM |
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1 / 7739
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6
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(OMIM)
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Mild facioscapulohumeral muscular dystrophy |
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1 / 7739
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7
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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8
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(OMIM)
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Muscle biopsy shows normal light-microscopic and histochemical findings |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |