Glycogen storage disease due to glucose-6-phosphatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GSD type 1
Glycogen storage disease due to G6P deficiency
Glycogen storage disease type 1
Glycogenosis type 1
Hepatorenal glycogenosis
Von Gierke disease
G6P deficiency
GSD due to G6P deficiency
Number of Symptoms 35
OrphanetNr: 364
OMIM Id: 232200
232220
232240
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: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
2
 (HPO:0012213) Decreased glomerular filtration rate 21 / 7739
3
 (HPO:0000787) Nephrolithiasis 78 / 7739
4
 (HPO:0000105) Enlarged kidneys 30 / 7739
5
 (HPO:0000093) Proteinuria 169 / 7739
6
 (HPO:0000295) Doll-like facies 5 / 7739
7
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
8
 (HPO:0000660) Lipemia retinalis 7 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0000823) Delayed puberty 65 / 7739
11
 (HPO:0001997) Gout 18 / 7739
12
 (HPO:0000939) Osteoporosis 129 / 7739
13
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
14
 (HPO:0002240) Hepatomegaly 467 / 7739
15
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
16
 (HPO:0001538) Protuberant abdomen 36 / 7739
17
 (HPO:0001733) Pancreatitis 46 / 7739
18
 (HPO:0001402) Hepatocellular carcinoma 25 / 7739
19
 (HPO:0002254) Intermittent diarrhea 5 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0000991) Xanthomatosis 16 / 7739
22
 (HPO:0000822) Hypertension 224 / 7739
23
 (HPO:0001892) Abnormal bleeding 85 / 7739
24
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 37 / 7739
25
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
26
 (HPO:0001943) Hypoglycemia Very frequent [Orphanet] 131 / 7739
27
 (HPO:0003128) Lactic acidosis 116 / 7739
28
 (HPO:0003077) Hyperlipidemia 37 / 7739
29
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
30
 (HPO:0001012) Multiple lipomas Occasional [Orphanet] 43 / 7739
31
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
32
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
33
 (HPO:0003199) Decreased muscle mass 27 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: