Glycogen storage disease due to glucose-6-phosphatase deficiency type b

General Information (adopted from Orphanet):

Synonyms, Signs: G6P translocase deficiency
Glycogenosis due to glucose-6-phosphatase transport defect
Glycogenosis due to glucose-6-phosphatase deficiency type b
GSD due to G6P deficiency type b
GSD type 1 non a
G6PT deficiency
GSD type 1b
Glycogen storage disease type 1b
Glycogenosis type Ib
G6P deficiency type b
Glycogen storage disease due to G6P deficiency type b
GSD due to G6PT deficiency
GSDIb
Number of Symptoms 60
OrphanetNr: 79259
OMIM Id: 232220
232240
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24565827 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Constitutional neutropenia with extra-haematopoietic manifestations
 -Rare genetic disease
 -Rare immune disease
Glycogen storage disease due to glucose-6-phosphatase deficiency
 -Rare genetic disease
 -Rare hepatic disease
 -Rare renal disease

Comment:

GSD-Ia is caused by a deficiency in the liver/kidney/intestine-restricted G6Pase-alpha (G6PC) while GSD-Ib is caused by a deficiency in the ubiquitously expressed G6PT (or SLC37A4) (PMID:25288127). A new framework has now emerged which shows that the G6PT/G6Pase-α complex (GSD-Ia) maintains interprandial glucose homeostasis whereas the G6PT/G6Pase-β complex (GSD-Ib) maintains neutrophil homeostasis and function (PMID:20975743). G6PT (SLC37A4) is essential to maintain both interprandial blood glucose homeostasis and myeloid cell energy homeostasis, making GSD-Ib both a metabolic and immune disorder. To date, 92 separate mutations have been identified in the SLC37A4 gene of GSD-Ib and non-GSD-Ia patients. One underlying cause of neutrophil/macrophage dysfunction in GSD-Ib and GSD-Irs (GSD-I related syndrome, Orphanet:331176) is a disturbance in ER energy homeostasis caused by a loss of G6Pase-beta (G6PC3)/G6PT-mediated glucose/G6P recycling (PMID:25288127).

Symptom Information: Sort by abundance 

1
 (HPO:0012594) Microalbuminuria 12373567 IBIS 6 / 7739
2
 (HPO:0000787) Nephrolithiasis 12373567 IBIS 78 / 7739
3
 (HPO:0000093) Proteinuria 20975743 IBIS 169 / 7739
4
 (HPO:0000083) Renal insufficiency 20975743 IBIS 232 / 7739
5
 (HPO:0000121) Nephrocalcinosis 12373567 IBIS 57 / 7739
6
 (HPO:0012212) Abnormal glomerular filtration rate 17410288 IBIS 4 / 7739
7
 (HPO:0000132) Menorrhagia 24201678 IBIS 40 / 7739
8
 (HPO:0000105) Enlarged kidneys 25288127 IBIS 30 / 7739
9
 (HPO:0000097) Focal segmental glomerulosclerosis 3422104 IBIS 37 / 7739
10
 (HPO:0000421) Epistaxis 12373567 IBIS 85 / 7739
11
 (HPO:0000155) Oral ulcer 17168629 IBIS 9 / 7739
12
 (HPO:0000295) Doll-like facies 12373567 IBIS 5 / 7739
13
 (HPO:0000660) Lipemia retinalis 7746653 IBIS 7 / 7739
14
 (HPO:0001249) Intellectual disability 12373567 IBIS 1089 / 7739
15
 (HPO:0001259) Coma 12373567 IBIS 65 / 7739
16
 (HPO:0002197) Generalized seizures 12373567 IBIS 30 / 7739
17
 (HPO:0000823) Delayed puberty 12373567 IBIS 65 / 7739
18
 (HPO:0000821) Hypothyroidism 20975743 IBIS 141 / 7739
19
 (HPO:0000939) Osteoporosis 25288127 IBIS 129 / 7739
20
 (HPO:0002750) Delayed skeletal maturation 12373567 IBIS 250 / 7739
21
 (HPO:0000938) Osteopenia 12373567 IBIS 138 / 7739
22
 (HPO:0001997) Gout 25288127 IBIS 18 / 7739
23
 (HPO:0001538) Protuberant abdomen 12373567 IBIS 36 / 7739
24
 (HPO:0002240) Hepatomegaly 12373567 IBIS 467 / 7739
25
 (HPO:0002037) Inflammation of the large intestine 25288127 IBIS 25 / 7739
26
 (HPO:0002910) Elevated hepatic transaminases 17410288 IBIS 158 / 7739
27
 (HPO:0001744) Splenomegaly 12373567 IBIS 337 / 7739
28
 (HPO:0001402) Hepatocellular carcinoma 25288127 IBIS 25 / 7739
29
 (HPO:0001733) Pancreatitis 12373567 IBIS 46 / 7739
30
 (HPO:0012028) Hepatocellular adenoma 12373567 IBIS 6 / 7739
31
 (HPO:0002014) Diarrhea 12373567 IBIS 225 / 7739
32
 (HPO:0002013) Vomiting 12373567 IBIS 191 / 7739
33
 (HPO:0001510) Growth delay 12373567 IBIS 295 / 7739
34
 (HPO:0004322) Short stature 20975743 IBIS 1232 / 7739
35
 (HPO:0001508) Failure to thrive 12373567 IBIS 454 / 7739
36
 (HPO:0000975) Hyperhidrosis 12373567 IBIS 64 / 7739
37
 (HPO:0000980) Pallor 12373567 IBIS 52 / 7739
38
 (HPO:0000822) Hypertension 12373567 IBIS 224 / 7739
39
 (HPO:0002092) Pulmonary hypertension 25288127 IBIS 109 / 7739
40
 (HPO:0001903) Anemia 12373567 IBIS 289 / 7739
41
 (HPO:0004311) Abnormality of macrophages 25288127 IBIS 7 / 7739
42
 (HPO:0001875) Neutropenia 25288127 IBIS 83 / 7739
43
 (HPO:0003010) Prolonged bleeding time 12373567 IBIS 88 / 7739
44
 (HPO:0001892) Abnormal bleeding 12373567 IBIS 85 / 7739
45
 (HPO:0001881) Abnormality of leukocytes 25288127 IBIS 6 / 7739
46
 (HPO:0010974) Abnormality of myeloid leukocytes 25288127 IBIS 6 / 7739
47
 (HPO:0010977) Abnormality of phagocytes 25288127 IBIS 4 / 7739
48
 (HPO:0001943) Hypoglycemia Very frequent [IBIS] 25288127 IBIS 131 / 7739
49
 (HPO:0003124) Hypercholesterolemia 12373567 IBIS 53 / 7739
50
 (HPO:0011014) Abnormal glucose homeostasis Very frequent [IBIS] 25288127 IBIS 5 / 7739
51
 (HPO:0003077) Hyperlipidemia 12373567 IBIS 37 / 7739
52
 (HPO:0003128) Lactic acidosis 25288127 IBIS 116 / 7739
53
 (HPO:0002155) Hypertriglyceridemia 12373567 IBIS 67 / 7739
54
 (HPO:0002149) Hyperuricemia 12373567 IBIS 37 / 7739
55
 (HPO:0003206) Decreased activity of NADPH oxidase 25288127 IBIS 8 / 7739
56
 (HPO:0004363) Abnormality of calcium homeostasis 25288127 IBIS 4 / 7739
57
 (HPO:0002718) Recurrent bacterial infections 20975743 IBIS 75 / 7739
58
 (HPO:0002721) Immunodeficiency 25288127 IBIS 97 / 7739
59
 (HPO:0002719) Recurrent infections 20975743 IBIS 107 / 7739
60
 (HPO:0003199) Decreased muscle mass 19808227 IBIS 27 / 7739

Associated genes:

SLC37A4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: