Multifocal muscular fibrosis - obstructed vessels
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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2033
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OMIM Id:
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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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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:0001315)
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Reduced tendon reflexes |
Very frequent [Orphanet]
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160 / 7739
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2
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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3
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(HPO:0002514)
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Cerebral calcification |
Very frequent [Orphanet]
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89 / 7739
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4
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(HPO:0002240)
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Hepatomegaly |
Very frequent [Orphanet]
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467 / 7739
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5
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(HPO:0001744)
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Splenomegaly |
Very frequent [Orphanet]
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337 / 7739
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6
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(HPO:0001025)
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Urticaria |
Very frequent [Orphanet]
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73 / 7739
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7
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(HPO:0011025)
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Abnormality of cardiovascular system physiology |
Very frequent [Orphanet]
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41 / 7739
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8
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(HPO:0011675)
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Arrhythmia |
Very frequent [Orphanet]
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226 / 7739
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9
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(HPO:0010701)
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Abnormal immunoglobulin level |
Very frequent [Orphanet]
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49 / 7739
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10
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(HPO:0003202)
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Skeletal muscle atrophy |
Very frequent [Orphanet]
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281 / 7739
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11
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(HPO:0100578)
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Lipoatrophy |
Very frequent [Orphanet]
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30 / 7739
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12
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(HPO:0030089)
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Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
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64 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |