Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE GSD9B GSD IXb Glycogenosis due to liver and muscle phosphorylase kinase deficiency GSD type 9B Glycogenosis type IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type IXb Glycogen storage disease type IXb Glycogenosis type 9B Glycogen storage disease type 9B |
| Number of Symptoms | 10 |
| OrphanetNr: | 79240 |
| OMIM Id: |
261750
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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: | No data available. |
| Inheritance: |
Autosomal 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 Muscular glycogenosis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(OMIM) | Phosphorylase kinase deficiency in liver and muscle | 1 / 7739 | ||||
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(OMIM) | Mild weakness | 1 / 7739 | ||||
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(OMIM) | Glycogen accumulation in both liver and muscle | 1 / 7739 | ||||
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(OMIM) | Short stature, postnatal onset | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In an Israeli Arab family reported by Bashan et al. (1981), a 4-year-old brother and 2 sisters had marked hepatomegaly and marked accumulation of glycogen in both liver and muscle, without clinical symptoms. Liver phosphorylase kinase (PK) activity ... |
| Molecular genetics OMIM |
In 1 female and 4 male patients with glycogen storage disease IXb, Burwinkel et al. (1997) identified mutations in the PHKB gene. There were 5 different nonsense mutations (see, e.g., 172490.0002), a 1-bp insertion (172490.0001), a splice site ... |