ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

2 OMIM references -
2 associated genes
No signs/symptoms info

Proximal spinal muscular atrophy type 3

Glycogen storage disease due to liver phosphorylase kinase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMN1 SMN2	(0.63) (0.63)	PHKG2 PHKG2

Citations in the biomedical literature:

Proximal spinal muscular atrophy type 3		Glycogen storage disease due to liver phosphorylase kinase deficiency
	Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3		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

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

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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

No signs/symptoms info available.