MYOPATHY WITH ABNORMAL LIPID METABOLISM

General Information (adopted from Orphanet):

Synonyms, Signs: LIPID STORAGE MYOPATHY
Number of Symptoms 9
OrphanetNr:
OMIM Id: 255100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003198) Myopathy 151 / 7739
2
(HPO:0012548) Fatty replacement of skeletal muscle 8 / 7739
3
(HPO:0003701) Proximal muscle weakness 105 / 7739
4
(OMIM) Histochemically normal type-II muscle fibers 1 / 7739
5
(OMIM) Excessive neutral fat and free fatty acids in type-I fibers 1 / 7739
6
(OMIM) Neck and proximal limb muscle myopathy 1 / 7739
7
(OMIM) Degenerate mitochondrial on EM 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Interfibrillar and subsarcolemmal vacuoles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: