INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615424
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010991) Abnormality of the abdominal musculature 1 / 7739
2
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
3
 (HPO:0003701) Proximal muscle weakness 105 / 7739
4
 (HPO:0100299) Muscle fiber inclusion bodies 3 / 7739
5
 (HPO:0003805) Rimmed vacuoles 22 / 7739
6
 (HPO:0006785) Limb-girdle muscular dystrophy 14 / 7739
7
 (HPO:0003198) Myopathy 151 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: