Glycogen storage disease due to glycogenin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GSD XV
GYG1 DEFICIENCY
GLYCOGENIN DEFICIENCY
GSD15
Glycogenosis type 15
GSD type 15
Glycogenosis due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
GSD type XV
GSD due to glycogenin deficiency
Glycogenosis type XV
Number of Symptoms 10
OrphanetNr: 263297
OMIM Id: 613507
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

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:0011712) Right bundle branch block 34 / 7739
2
 (HPO:0004308) Ventricular arrhythmia 46 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (OMIM) Cytoplasmic glycogen depletion 1 / 7739
5
 (OMIM) Central vacuoles containing PAS-positive material 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Mitochondrial proliferation 4 / 7739
8
 (OMIM) Glycogen depletion in skeletal muscle 1 / 7739
9
 (OMIM) Marked predominance of slow-twitch, oxidative (type 1) muscle fibers 1 / 7739
10
 (OMIM) Hypertrophic cardiomyocytes 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moslemi et al. (2010) reported a 27-year-old man who had muscle weakness associated with the depletion of glycogen in skeletal muscle and cardiac arrhythmias associated with the accumulation of abnormal storage material in the heart. He presented with ...
Molecular genetics OMIM In a 27-year-old man with muscle weakness and cardiac arrhythmias associated with glycogen depletion, here designated glycogen storage disease XV (GSD15), Moslemi et al. (2010) sequenced candidate genes involved in glycogen synthesis and identified compound heterozygosity for a ...