ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Glycogen storage disease due to phosphoglucomutase deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1D


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PGM1	(0.63)	DNAJB6

Citations in the biomedical literature:

Glycogen storage disease due to phosphoglucomutase deficiency		Autosomal dominant limb-girdle muscular dystrophy type 1D
	Synonym(s): - GSD due to phosphoglucomutase deficiency - GSD type 14 - GSDXIV - Glycogen storage disease type 14 - Glycogenosis due to phosphoglucomutase deficiency - Glycogenosis type 14 - Phosphoglucomutase 1 deficiency		Synonym(s): - LGMD1D

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: no data available Type of inheritance: autosomal dominant

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

No signs/symptoms info available.