Glycogen storage disease due to liver phosphorylase kinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XLG Glycogenosis type 9C Glycogenosis type 9A Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis type IXc Glycogen storage disease type 9C Glycogen storage disease type 9A Glycogenosis type IXa GSD type 9A Glycogen storage disease type IXc GSD type IXa GSD type IXc Glycogen storage disease type IXa GSD due to liver phosphorylase kinase deficiency GSD type 9C |
| Number of Symptoms | 9 |
| OrphanetNr: | 264580 |
| OMIM Id: |
306000
613027 |
| ICD-10: |
E74.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Glycogen storage disease due to phosphorylase kinase deficiency
-Rare genetic disease Metabolic liver disease -Rare genetic disease -Rare hepatic disease |
Symptom Information:
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0002155) | Hypertriglyceridemia | 67 / 7739 | ||||
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(HPO:0001946) | Ketosis | 17 / 7739 | ||||
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(HPO:0003124) | Hypercholesterolemia | 53 / 7739 | ||||
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(HPO:0001943) | Hypoglycemia | Common [HPO:probinson] | 131 / 7739 | |||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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