Glycogen storage disease due to muscle and heart glycogen synthase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCLE GLYCOGEN STORAGE DISEASE 0
MUSCLE GLYCOGEN SYNTHASE DEFICIENCY
GSD due to muscle and heart glycogen synthase deficiency
GSD type 0b
GSD 0b
Glycogen storage disease type 0b
GSD0b
Glycogenosis type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Number of Symptoms 11
OrphanetNr: 137625
OMIM Id: 611556
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases - PMID: 21958591 [IBIS]
Inheritance: Autosomal recessive
- PMID: 17928598 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease due to glycogen synthase deficiency
 -Rare genetic disease
Glycogen storage disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

The authors describe that GYS1 deficiency could be a common cause of sudden cardiac death in children.

Symptom Information: Sort by abundance 

1
 (HPO:0003554) Type 2 muscle fiber atrophy 21958591 IBIS 14 / 7739
2
 (HPO:0001279) Syncope 21958591 IBIS 94 / 7739
3
 (HPO:0003326) Myalgia 21958591 IBIS 143 / 7739
4
 (HPO:0007185) Loss of consciousness 21958591 IBIS 9 / 7739
5
 (HPO:0001324) Muscle weakness 21958591 IBIS 859 / 7739
6
 (HPO:0001657) Prolonged QT interval 17928598 IBIS 33 / 7739
7
 (HPO:0002069) Generalized tonic-clonic seizures 17928598 IBIS 96 / 7739
8
 (HPO:0001712) Left ventricular hypertrophy 17928598 IBIS 76 / 7739
9
 (HPO:0001638) Cardiomyopathy 17928598 IBIS 192 / 7739
10
 (HPO:0012270) Decreased muscle glycogen content 17928598 IBIS 1 / 7739
11
 (HPO:0003546) Exercise intolerance 17928598 IBIS 62 / 7739

Associated genes:

GYS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GYS1 rs121434584 pathogenic RCV000017435.29
GYS1 rs587777375 pathogenic RCV000116203.2

Additional Information:

Clinical Description OMIM Among the offspring of consanguineous parents of Syrian origin, Kollberg et al. (2007) described cardiomyopathy and exercise intolerance associated with complete absence of muscle glycogen. The oldest brother developed normally until the age of 4 years, when he ...
Molecular genetics OMIM In 3 sibs with muscle and heart glycogen deficiency, Kollberg et al. (2007) found a premature termination mutation in the muscle glycogen synthase gene (R462X; 138570.0001). Several findings in the patients reported by Kollberg et al. (2007) were ...