Hyaline body myopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 53698
OMIM Id: 255160
608358
ICD-10: G71.2
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: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002058) Myopathic facies rare [HPO:skoehler] 26 / 7739
2
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
3
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
5
 (HPO:0001635) Congestive heart failure 232 / 7739
6
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
7
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
8
 (HPO:0002093) Respiratory insufficiency 410 / 7739
9
 (HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
10
 (HPO:0003704) Scapuloperoneal weakness 6 / 7739
11
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
12
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
13
 (HPO:0003697) Scapuloperoneal amyotrophy 5 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: