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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Glycogen storage disease due to liver phosphorylase kinase deficiency
Leigh syndrome with nephrotic syndrome

PHKA2 BCS1L
PHKG2 COQ2
DLD
PDSS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PHKG2
(0.63)
DLD



Citations in the biomedical literature:


Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2
Leigh syndrome with nephrotic syndrome
BCS1L COQ2 DLD PDSS2



Glycogen storage disease due to liver phosphorylase kinase deficiency
Leigh syndrome with nephrotic syndrome

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):
- Infantile subacute necrotizing encephalopathy with nephrotic syndrome
- Leigh disease with nephrotic syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.