Glycogen storage disease due to glucose-6-phosphatase deficiency type a
General Information (adopted from Orphanet):
Synonyms, Signs: |
GSD1A GSD1 Glycogenosis due to glucose-6-phosphatase deficiency type a Hepatorenal form of glycogen storage disease GSD due to G6P deficiency type a Hepatorenal glycogenosis von Gierke disease GSD type 1a Glucose-6-phosphatase deficiency Glycogen storage disease due to G6P deficiency type a Glycogen storage disease type 1a Glycogenosis type Ia G6P deficiency type a Glycogen storage disease I GSDIa GSD Ia |
Number of Symptoms | 51 |
OrphanetNr: | 79258 |
OMIM Id: |
232200
|
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: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT 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). Eighty-nine separate G6PC mutations, including 58 missense, ten nonsense, 17 insertion/deletion, three splicing and one no-stop mutation have been identified to date (PMID:25288127). |
Symptom Information:
|
(HPO:0003537) | Hypouricemia | 16176880 | IBIS | 13 / 7739 | ||
|
(HPO:0000093) | Proteinuria | 20975743 | IBIS | 169 / 7739 | ||
|
(HPO:0000105) | Enlarged kidneys | 25288127 | IBIS | 30 / 7739 | ||
|
(HPO:0000787) | Nephrolithiasis | 12373567 | IBIS | 78 / 7739 | ||
|
(HPO:0012594) | Microalbuminuria | 12373567 | IBIS | 6 / 7739 | ||
|
(HPO:0000132) | Menorrhagia | 24201678 | IBIS | 40 / 7739 | ||
|
(HPO:0000121) | Nephrocalcinosis | 12373567 | IBIS | 57 / 7739 | ||
|
(HPO:0000083) | Renal insufficiency | 20975743 | IBIS | 232 / 7739 | ||
|
(HPO:0000097) | Focal segmental glomerulosclerosis | 3422104; 19808227 | IBIS | 37 / 7739 | ||
|
(HPO:0012212) | Abnormal glomerular filtration rate | 17410288 | IBIS | 4 / 7739 | ||
|
(HPO:0000421) | Epistaxis | 12373567 | IBIS | 85 / 7739 | ||
|
(HPO:0000295) | Doll-like facies | 12373567 | IBIS | 5 / 7739 | ||
|
(HPO:0000660) | Lipemia retinalis | 7746653 | IBIS | 7 / 7739 | ||
|
(HPO:0002197) | Generalized seizures | 12373567 | IBIS | 30 / 7739 | ||
|
(HPO:0001249) | Intellectual disability | 12373567 | IBIS | 1089 / 7739 | ||
|
(HPO:0001259) | Coma | 12373567 | IBIS | 65 / 7739 | ||
|
(HPO:0000823) | Delayed puberty | 12373567 | IBIS | 65 / 7739 | ||
|
(HPO:0000938) | Osteopenia | 20975743 | IBIS | 138 / 7739 | ||
|
(HPO:0002750) | Delayed skeletal maturation | 12373567 | IBIS | 250 / 7739 | ||
|
(HPO:0000939) | Osteoporosis | 25288127 | IBIS | 129 / 7739 | ||
|
(HPO:0001997) | Gout | 25288127 | IBIS | 18 / 7739 | ||
|
(HPO:0002240) | Hepatomegaly | 12373567 | IBIS | 467 / 7739 | ||
|
(HPO:0002910) | Elevated hepatic transaminases | 17410288 | IBIS | 158 / 7739 | ||
|
(HPO:0001733) | Pancreatitis | 12373567 | IBIS | 46 / 7739 | ||
|
(HPO:0001744) | Splenomegaly | 12373567 | IBIS | 337 / 7739 | ||
|
(HPO:0001402) | Hepatocellular carcinoma | 25288127 | IBIS | 25 / 7739 | ||
|
(HPO:0001538) | Protuberant abdomen | 12373567 | IBIS | 36 / 7739 | ||
|
(HPO:0002013) | Vomiting | 12373567 | IBIS | 191 / 7739 | ||
|
(HPO:0012028) | Hepatocellular adenoma | 12373567 | IBIS | 6 / 7739 | ||
|
(HPO:0002014) | Diarrhea | 12373567 | IBIS | 225 / 7739 | ||
|
(HPO:0004322) | Short stature | 20975743 | IBIS | 1232 / 7739 | ||
|
(HPO:0001508) | Failure to thrive | 12373567 | IBIS | 454 / 7739 | ||
|
(HPO:0001510) | Growth delay | 12373567 | IBIS | 295 / 7739 | ||
|
(HPO:0000975) | Hyperhidrosis | 12373567 | IBIS | 64 / 7739 | ||
|
(HPO:0000980) | Pallor | 12373567 | IBIS | 52 / 7739 | ||
|
(HPO:0000991) | Xanthomatosis | 12846528 | IBIS | 16 / 7739 | ||
|
(HPO:0002092) | Pulmonary hypertension | 25288127 | IBIS | 109 / 7739 | ||
|
(HPO:0000822) | Hypertension | 25288127 | IBIS | 224 / 7739 | ||
|
(HPO:0001903) | Anemia | 12373567 | IBIS | 289 / 7739 | ||
|
(HPO:0001928) | Abnormality of coagulation | 3087438; 16435187 | IBIS | 44 / 7739 | ||
|
(HPO:0001892) | Abnormal bleeding | 12373567 | IBIS | 85 / 7739 | ||
|
(HPO:0003010) | Prolonged bleeding time | 12373567 | IBIS | 88 / 7739 | ||
|
(HPO:0003124) | Hypercholesterolemia | 25288127 | IBIS | 53 / 7739 | ||
|
(HPO:0003077) | Hyperlipidemia | 25288127 | IBIS | 37 / 7739 | ||
|
(HPO:0003128) | Lactic acidosis | 25288127 | IBIS | 116 / 7739 | ||
|
(HPO:0011014) | Abnormal glucose homeostasis | Very frequent [IBIS] | 25288127 | IBIS | 5 / 7739 | |
|
(HPO:0002155) | Hypertriglyceridemia | 25288127 | IBIS | 67 / 7739 | ||
|
(HPO:0001943) | Hypoglycemia | Very frequent [IBIS] | 25288127 | IBIS | 131 / 7739 | |
|
(HPO:0002149) | Hyperuricemia | 12373567 | IBIS | 37 / 7739 | ||
|
(HPO:0003199) | Decreased muscle mass | 19808227 | IBIS | 27 / 7739 | ||
|
(OMIM) | Liver transaminases normal to slightly increased | 17410288 | IBIS | 2 / 7739 |
Associated genes:
G6PC; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Description: (OMIM) |
Glycogen storage disease type I (GSD1a), also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic ... |
Diagnosis OMIM |
Seydewitz and Matern (2000) achieved 100% mutation detection rate in a study of 40 patients with GSD Ia. They identified 5 novel mutations in the G6PC gene. The authors suggested that molecular genetic analysis is a reliable and convenient ... |
Clinical Description OMIM |
Burchell et al. (1987) reported 2 women, aged 51 and 22 years, with partial GSD type Ia, and a 54-year-old man with complete GSD type Ia. The patient with complete type Ia had had unexplained hepatomegaly and a bleeding ... |
Molecular genetics OMIM |
In 2 patients with glycogen storage disease Ia, Lei et al. (1993) identified homozygous and compound heterozygous mutations, respectively, in the G6PC gene (613742.0001-613742.0003). Lei et al. (1995) used SSCP analysis and DNA sequencing to characterize the ... |
Population genetics OMIM |
Lei et al. (1993) stated that glycogen storage disease Ia has an incidence of 1 in 100,000 to 300,000. Ekstein et al. (2004) found that the prevalence of GSD Ia in the Ashkenazi Jewish population is 1 ... |