MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 254960
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:0012086) Abnormal urinary color 19 / 7739
2
(HPO:0012087) Abnormal mitochondrial shape 8 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0003738) Exercise-induced myalgia 19 / 7739
5
(HPO:0003198) Myopathy 151 / 7739
6
(OMIM) Moderate symmetrical pectoral girdle wasting 1 / 7739
7
(OMIM) Normal extraocular muscle function 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Mild weakness of neck flexion 1 / 7739
10
(OMIM) No facial weakness 3 / 7739
11
(OMIM) Malate-aspartate shuttle system defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hayes et al. (1987) described the first instance of a myopathy resulting from a defect in the malate-aspartate shuttle system. The patient was a 27-year-old man with a 3-year history of exercise-induced muscle pain, passage of red urine, ...