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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Glycogen storage disease due to liver phosphorylase kinase deficiency
Myxoid/round cell liposarcoma

PHKA2 DDIT3
PHKG2 FUS


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2
Myxoid/round cell liposarcoma
DDIT3 FUS



Glycogen storage disease due to liver phosphorylase kinase deficiency
Myxoid/round cell liposarcoma

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):
- MRCLS

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

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: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018208

Myxoid/round cell liposarcoma

Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute abdominal pain / colic
- Intestinal transit disorder


Glycogen storage disease due to liver phosphorylase kinase deficiency

(no data available)