Glycogen storage disease due to muscle phosphorylase kinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MUSCLE GLYCOGENOSIS, X-LINKED MUSCLE PHOSPHORYLASE KINASE DEFICIENCY GSD9D Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogenosis type 9D Glycogenosis type IXd Glycogenosis type IXe Glycogenosis due to muscle phosphorylase kinase deficiency GSD IXd GSD type IXd GSD due to muscle phosphorylase kinase deficiency GSD type IXe Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogenosis type 9E GSD type 9D GSD type 9E |
| Number of Symptoms | 11 |
| OrphanetNr: | 715 |
| OMIM Id: |
300559
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| 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: | < 30 cases [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Glycogen storage disease due to phosphorylase kinase deficiency
-Rare genetic disease Muscular glycogenosis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0008305) | Exercise-induced myoglobinuria | 7 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0008967) | Exercise-induced muscle stiffness | 6 / 7739 | ||||
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(HPO:0003546) | Exercise intolerance | 62 / 7739 | ||||
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(HPO:0003738) | Exercise-induced myalgia | 19 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | Muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation | 1 / 7739 | ||||
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(OMIM) | Muscle biopsy shows decreased muscle-specific phosphorylase kinase activity | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Muscle biopsy shows mitochondrial paracrystalline inclusions | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult-onset of symptoms, and some can remain asymptomatic even in late adulthood. The phenotype ... |
| Clinical Description OMIM |
Abarbanel et al. (1986) reported a 35-year-old man with severe exercise intolerance and muscle cramps. Muscle biopsy showed subsarcolemmal and intermyofibrillar accumulation of glycogen. Muscle phosphorylase kinase activity was 12% of control values. Clemens et al. ... |
| Molecular genetics OMIM |
In patient 1 with phosphorylase kinase deficiency reported by Clemens et al. (1990), Wehner et al. (1994) identified a nonsense mutation in the PHKA1 gene (311870.0001). The findings confirmed that the condition in this patient was a human ... |