glycogen storage disease Ib
MONDO:0009288Mondo
Findings
No curated finding names glycogen storage disease Ib yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A type of glycogenosis due to G6P deficiency.
Definition from the Mondo Disease Ontology (MONDO:0009288), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
69 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cyclically decreased total neutrophil countHPOHP:0040289
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 34 of 34 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Inflammation of the large intestineHPOHP:0002037
- 1 of 1 reported patient
- 1 of 1 reported patient · Juvenile onset
- Occasional (5% to 29% of cases)
- Lactic acidosisHPOHP:0003128
Show the remaining 57
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypercholesterolemiaHPOHP:0003124
- Very frequent (80% to 99% of cases)
- HyperlipidemiaHPOHP:0003077
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- HyperuricemiaHPOHP:0002149
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC37A4HGNC:4061
- Definitive · G2P · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
22 names
Resolves to: glycogen storage disease Ib
- Also called
- G6P deficiency type IBG6P translocase deficiencyG6PT deficiencyglucose-6-phosphate transport defectglycogen storage disease due to G6P deficiency type IBglycogen storage disease Icglycogen storage disease type 1bglycogen storage disease type I non-aglycogen storage disease type IBglycogen storage disease type Icglycogenosis due to glucose-6-phosphatase deficiency type 1Bglycogenosis due to glucose-6-phosphatase transport defect type IBglycogenosis type 1bglycogenosis type IBGSD due to G6P deficiency type IB