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Glycogen storage disease IXc

MONDO:0013091

A liver PhK deficiency caused by variants in the PHKG2 gene

Also known as: GSD type 9C, GSD type IXc, GSD9C, PHKG2 glycogen storage disease, PHKG2-related glycogen storage disease type IX, glycogen storage disease IXc, glycogen storage disease caused by mutation in PHKG2, glycogen storage disease type IXc

3 clinical trials for this condition and its sub-types, 2 tagged with Glycogen storage disease IXc itself.

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↑ Glycogen storage disease IX (3) ↑ Glycogen storage disease due to liver phosphorylase kinase deficiency (2)

Including sub-types (3) Tagged with Glycogen storage disease IXc (2)

Trials to join now! 1 Not yet finished but already full! 1

Researchers launch Largest-Ever natural history study for rare GSD types

Knowledge-focused Recruiting now

This study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…

Sponsor: Duke University • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:29 UTC

Glycogen storage disease IXc

Where it sits in the disease tree

Researchers launch Largest-Ever natural history study for rare GSD types