glycogen storage disease IXb
Findings
No curated finding names glycogen storage disease IXb yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0009868), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
47 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- 10 of 15 reported patients
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- 10 of 15 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
Show the remaining 35
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- DysmenorrheaHPOHP:0100607
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Exercise intoleranceHPOHP:0003546
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 2 of 15 reported patients
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.
- PHKBHGNC:8927
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
14 names
Resolves to: glycogen storage disease IXb
- Also called
- glycogen storage disease 9Bglycogen storage disease caused by mutation in PHKBglycogen storage disease type 9Bglycogen storage disease type IXbglycogenosis due to liver and muscle phosphorylase kinase deficiencyglycogenosis type 9Bglycogenosis type IXbGSD due to liver and muscle phosphorylase kinase deficiencyGSD IXbGSD type 9BGSD type IXbGSD9BPHKB glycogen storage diseasePHKB-related glycogen storage disease type IX