Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

General Information (adopted from Orphanet):

Synonyms, Signs: AMYLOPECTINOSIS
GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED
GLYCOGENOSIS IV
CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED
GSD IV
GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED
GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED
GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED
GBE1 DEFICIENCY
BRANCHER DEFICIENCY
ANDERSEN DISEASE
GLYCOGEN BRANCHING ENZYME DEFICIENCY
GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED
GSD4
GSD type 4, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSDIV, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GBE deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Number of Symptoms 0
OrphanetNr: 308670
OMIM Id: 232500
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease due to glycogen branching enzyme deficiency
 -Rare cardiac disease
 -Rare genetic disease
 -Rare hepatic disease
 -Rare neurologic disease

Comment:

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form is a sub-type of Glycogen storage disease due to glycogen branching enzyme deficiency. For symptom annotation please refer to Glycogen storage disease due to glycogen branching enzyme deficiency.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GBE1 rs137852890 pathogenic RCV000002920.1
GBE1 rs137852892 pathogenic RCV000002924.1
GBE1 rs137852893 pathogenic RCV000002925.1
GBE1 rs137852894 pathogenic RCV000002927.1
GBE1 rs397515342 pathogenic RCV000002906.1
GBE1 rs397515344 pathogenic RCV000002926.1

Additional Information:

Diagnosis OMIM Shin et al. (1988) demonstrated that the diagnosis of both homozygotes and heterozygotes can be made on the basis of the study of branching enzyme activity in erythrocytes. Brown and Brown (1989) described successful prenatal testing for GSD ...
Clinical Description OMIM Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 ...
Molecular genetics OMIM Bao et al. (1996) found 2 missense mutations (607839.0004, 607839.0005) and 1 nonsense mutation (607839.0006) in the GBE gene in 2 patients with the classic hepatic form of GSD IV. Transient expression experiments showed that these mutations inactivated ...