IEMbase 0484: G6PC-related glucose-6-phosphatase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 484 |
| Nosology | 3.4.01.01 |
| Gene | G6PC |
| External IDs | OMIM:232200; ORPHA:364 |
| Generated mapping | MAPPED; high candidate Glycogen_Storage_Disease_Type_I.yaml#GSD Ia (glucose-6-phosphatase deficiency) |
| Candidate DisMech targets | Glycogen_Storage_Disease_Type_I.yaml#GSD Ia (glucose-6-phosphatase deficiency) |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive G6PC-related glucose-6-phosphatase deficiency as GSD Ia / von Gierke disease. Treatments are fasting avoidance, uncooked cornstarch, and liver transplantation. Biochemical rows include decreased hepatic glucose-6-phosphatase activity, increased liver glycogen, decreased fasting plasma glucose, increased fasting plasma and urine lactate, increased cholesterol, triglycerides, and uric acid, low fasting ketones, increased or normal transaminases, and increased biotinidase. Clinical rows include doll-like adiposity, bleeding tendency, delayed tooth eruption, diarrhea, glomerulosclerosis, hyperfiltration, liver adenoma/carcinoma, osteopenia, pancreatitis, pulmonary hypertension, renal enlargement, short stature, tachypnea, and taurodontism.
DisMech phenotype coverage
Glycogen_Storage_Disease_Type_I.yaml#GSD Ia (glucose-6-phosphatase deficiency)
is the correct local target. The entry models the G6PC1/G6PC catalytic-subunit
branch of GSD I, impaired glucose-6-phosphate hydrolysis, fasting
hypoglycemia, hepatomegaly, nephromegaly, lactic acidosis, hypertriglyceridemia,
hyperuricemia, hyperlipidemia, hepatic steatosis, hepatic adenoma, renal
disease/proteinuria/renal insufficiency, osteoporosis, gout, pancreatitis,
seizures, delayed puberty, systemic and pulmonary hypertension, platelet/von
Willebrand-factor bleeding tendency, uncooked cornstarch therapy, allopurinol,
lipid-lowering therapy, renal protection, liver transplantation, and genetic
counseling.
Concordance and completeness
Judgement: correct subtype-level GSD Ia mapping with high concordance.
The resources agree on GSD Ia identity, recessive inheritance, the glucose-6-phosphatase-system lesion, fasting hypoglycemia, lactate/lipid/urate derangements, liver glycogen storage, renal and hepatic complications, bleeding tendency, and cornstarch/liver-transplant management. IEMbase adds granular prompts that are only partially represented locally, especially increased biotinidase, explicitly low fasting ketones, delayed tooth eruption, taurodontism, glomerulosclerosis/hyperfiltration, and the doll-like adiposity label.
Curation actions
- Keep the mapping to
Glycogen_Storage_Disease_Type_I.yaml#GSD Ia (glucose-6-phosphatase deficiency). - If importing IEMbase prompts, verify biotinidase, ketone suppression, tooth eruption/taurodontism, glomerulosclerosis/hyperfiltration, and doll-like adiposity against source evidence.