Glycogen storage disease due to phosphoglycerate mutase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
PGAMM DEFICIENCY
GSD X
GSD10
GSD due to phosphoglycerate mutase deficiency
Glycogenosis due to phosphoglycerate mutase deficiency
myopathy due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Number of Symptoms 15
OrphanetNr: 97234
OMIM Id: 261670
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
 (HPO:0003198) Myopathy 151 / 7739
5
 (HPO:0003546) Exercise intolerance 62 / 7739
6
 (HPO:0003710) Exercise-induced muscle cramps 11 / 7739
7
 (HPO:0003201) Rhabdomyolysis 27 / 7739
8
 (HPO:0003738) Exercise-induced myalgia 19 / 7739
9
 (HPO:0003394) Muscle cramps 106 / 7739
10
 (HPO:0003326) Myalgia 143 / 7739
11
 (OMIM) Decreased phosphoglycerate mutase 1 (PGAM2) activity (2 to 6% of normal values) 1 / 7739
12
 (OMIM) Muscle biopsy shows PAS-positive glycogen-containing vacuoles 1 / 7739
13
 (OMIM) Renal failure may occur 3 / 7739
14
 (OMIM) Pigmenturia 2 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM DiMauro et al. (1981) studied a 52-year-old who had onset in adolescence of exercise-induced cramps, occasional myoglobinuria, and intolerance for strenuous exercise. However, he led a relatively normal life including service in the army. Physical examination showed gouty ...
Molecular genetics OMIM In 5 patients with muscle phosphoglycerate mutase deficiency, Tsujino et al. (1993) identified 3 homozygous or compound heterozygous mutations in the PGAM2 gene (612931.0001-612931.0003). Four of the 5 patients were African American; the fifth was Italian.