INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
615422
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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:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000708) | Behavioral abnormality | 212 / 7739 | ||||
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(HPO:0002145) | Frontotemporal dementia | 14 / 7739 | ||||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 | ||||
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(HPO:0100614) | Myositis | 21 / 7739 | ||||
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(HPO:0100295) | Muscle fiber atrophy | 22 / 7739 | ||||
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(HPO:0003687) | Centrally nucleated skeletal muscle fibers | 15 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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