Glycogen storage disease due to phosphoglucomutase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GSDXIV
PGM1 DEFICIENCY
GSD XIV
GSD14
GSD type 14
GSD due to phosphoglucomutase deficiency
Glycogen storage disease type 14
phosphoglucomutase 1 deficiency
Glycogenosis type 14
Glycogenosis due to phosphoglucomutase deficiency
Number of Symptoms 12
OrphanetNr: 711
OMIM Id: 612934
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
 (HPO:0003201) Rhabdomyolysis 27 / 7739
4
 (HPO:0003394) Muscle cramps 106 / 7739
5
 (HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
6
 (HPO:0003546) Exercise intolerance 62 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Decreased phosphoglucomutase 1 (PGM1) activity (1% of normal values) 1 / 7739
9
 (OMIM) Pigmenturia 2 / 7739
10
 (OMIM) Increased serum ammonia 5 / 7739
11
 (OMIM) Mild pelvic girdle muscle weakness 1 / 7739
12
 (OMIM) Muscle biopsy shows glycogen accumulation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stojkovic et al. (2009) reported a 35-year-old man with recurrent muscle cramps provoked by exercise. He had had 2 episodes of dark-brown urine after strenuous exercise, suggesting rhabdomyolysis. Neurologic examination showed mild weakness of the pelvic-girdle muscles; serum ...
Molecular genetics OMIM In a man with exercise intolerance and episodic rhabdomyolysis, Stojkovic et al. (2009) identified compound heterozygosity for mutations in the PGM1 gene (171900.0001 and 171900.0002). Each unaffected parent carried 1 of the mutations.