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glycogen storage disease IXc
Summary
- Synonym
-
- GSD type 9C
- GSD type IXc
- GSD9C
- glycogen storage disease type 9C
- glycogen storage disease type IXc
- glycogenosis type 9C
- glycogenosis type IXc
- Definition
- A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
- Super Class
- autosomal recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111043
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5261 | PHKG2 | phosphorylase kinase catalytic subunit gamma 2 | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6476 | SI | sucrase-isomaltase | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8908 | GYG2 | glycogenin 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 57818 | G6PC2 | glucose-6-phosphatase catalytic subunit 2 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 |
Related Glycoprotein
