Glycogen storage disease due to glycogen branching enzyme deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Glycogen storage disease type 4
Andersen disease
Amylopectinosis
GSD type 4
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis type 4
GSD due to glycogen branching enzyme deficiency
Number of Symptoms 35
OrphanetNr: 367
OMIM Id: 232500
263570
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000 - PMID: 20833045 [IBIS]
Inheritance: Autosomal recessive
- PMID: 20833045 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Glycogen storage disease
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

The disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestations (PMD:11949934). In the classic hepatic form with rapid progressive liver cirrhosis in childhood, 3 mutations, R515C, F257L, and R524X, were identified; in the mild nonprogressive hepatic form L224P, Y329S, IVS5+2T>C, and R515H mutations; in the neuromuscular neonatal form deletion of 210 bp were identified (PMID:17027861). GSD IV can be easily distinguished from GSD II (Pompe disease) on the basis of muscle morphology (showing abundant glycogenosomes and no polyglucosan in GSD II) and biochemistry (lack of alpha glucosidase activity in GSDII) (PMID:20833045).

Symptom Information: Sort by abundance 

1
 (HPO:0001315) Reduced tendon reflexes 23014386 IBIS 160 / 7739
2
 (HPO:0001999) Abnormal facial shape 23014386 IBIS 169 / 7739
3
 (HPO:0002878) Respiratory failure 23014386 IBIS 57 / 7739
4
 (HPO:0001324) Muscle weakness 23014386 IBIS 859 / 7739
5
 (HPO:0001409) Portal hypertension 23014386 IBIS 39 / 7739
6
 (HPO:0001508) Failure to thrive 26385640 IBIS 454 / 7739
7
 (HPO:0001488) Bilateral ptosis 20833045 IBIS 42 / 7739
8
 (HPO:0002804) Arthrogryposis multiplex congenita 20833045 IBIS 93 / 7739
9
 (HPO:0001284) Areflexia 20833045 IBIS 198 / 7739
10
 (HPO:0001371) Flexion contracture 20833045 IBIS 220 / 7739
11
 (HPO:0001397) Hepatic steatosis 20833045 IBIS 75 / 7739
12
 (HPO:0003715) Myofibrillar myopathy 20833045 IBIS 9 / 7739
13
 (HPO:0100314) Cerebral inclusion bodies 20833045 IBIS 2 / 7739
14
 (HPO:0100303) Muscle fiber cytoplasmatic inclusion bodies 20833045 IBIS 3 / 7739
15
 (HPO:0001558) Decreased fetal movement 20833045 IBIS 74 / 7739
16
 (HPO:0001561) Polyhydramnios 20833045 IBIS 191 / 7739
17
 (HPO:0001637) Abnormality of the myocardium 20833045 IBIS 76 / 7739
18
 (HPO:0001639) Hypertrophic cardiomyopathy 23056054 IBIS 137 / 7739
19
 (HPO:0001644) Dilated cardiomyopathy 23056054 IBIS 141 / 7739
20
 (HPO:0030148) Heart murmur 25155778 IBIS 29 / 7739
21
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 17027861 IBIS 192 / 7739
22
 (HPO:0001649) Tachycardia 25155778 IBIS 53 / 7739
23
 (HPO:0003270) Abdominal distention 25155778 IBIS 46 / 7739
24
 (HPO:0003202) Skeletal muscle atrophy 17027861 IBIS 281 / 7739
25
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] Very frequent [IBIS] 23014386 IBIS 990 / 7739
26
 (HPO:0001789) Hydrops fetalis 17027861 IBIS 63 / 7739
27
 (HPO:0008947) Infantile muscular hypotonia 17027861 IBIS 482 / 7739
28
 (HPO:0001394) Cirrhosis 17027861 IBIS 102 / 7739
29
 (HPO:0001395) Hepatic fibrosis 17027861 IBIS 67 / 7739
30
 (HPO:0001433) Hepatosplenomegaly 25155778 IBIS 78 / 7739
31
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 23014386 IBIS 129 / 7739
32
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 25155778 IBIS 34 / 7739
33
 (HPO:0001541) Ascites Very frequent [Orphanet] 25155778 IBIS 94 / 7739
34
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] Very frequent [IBIS] 23014386 IBIS 80 / 7739
35
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 20833045 IBIS 328 / 7739

Associated genes:

GBE1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GBE1 rs137852886 pathogenic RCV000002909.2
GBE1 rs137852886 pathogenic RCV000056134.1
GBE1 rs137852887 pathogenic RCV000056143.1
GBE1 rs137852887 pathogenic RCV000002912.3
GBE1 rs137852888 pathogenic RCV000002914.3
GBE1 rs137852888 pathogenic RCV000002913.3
GBE1 rs137852888 pathogenic RCV000056093.1
GBE1 rs137852889 pathogenic RCV000002919.3
GBE1 rs137852889 pathogenic RCV000056095.1
GBE1 rs137852890 pathogenic RCV000002920.1
GBE1 rs137852890 pathogenic RCV000056097.1
GBE1 rs137852891 pathogenic RCV000056098.1
GBE1 rs137852891 pathogenic RCV000002922.3
GBE1 rs137852892 pathogenic RCV000002924.1
GBE1 rs137852893 pathogenic RCV000002925.1
GBE1 rs137852894 pathogenic RCV000056096.1
GBE1 rs137852894 pathogenic RCV000002927.1
GBE1 rs192044702 pathogenic RCV000190589.1
GBE1 rs397515342 pathogenic RCV000002906.1
GBE1 rs397515343 pathogenic RCV000002918.3
GBE1 rs397515343 pathogenic RCV000056092.1
GBE1 rs397515344 pathogenic RCV000056135.1
GBE1 rs397515344 pathogenic RCV000002926.1
GBE1 rs80338671 pathogenic RCV000020163.1
GBE1 rs80338671 pathogenic RCV000002907.4
GBE1 rs80338672 pathogenic RCV000020161.1
GBE1 rs80338672 pathogenic RCV000002910.5
GBE1 rs80338673 pathogenic RCV000020162.1
GBE1 rs80338673 pathogenic RCV000002915.5

Additional Information: