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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
3 OMIM references -
3 associated genes
No signs/symptoms info
Glycogen storage disease due to liver phosphorylase kinase deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

PHKA2 HNRNPA1
PHKG2 HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PHKG2
PHKG2
PHKG2
(0.63)
(0.63)
(0.63)
HNRNPA1
HNRNPA2B1
VCP



Citations in the biomedical literature:


Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Glycogen storage disease due to liver phosphorylase kinase deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.