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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
PGM-CDG
Glycogen storage disease due to phosphoglucomutase deficiency

PGM1 PGM1


COMMON
GENES
PGM1



Citations in the biomedical literature:


PGM-CDG
PGM1
Glycogen storage disease due to phosphoglucomutase deficiency



PGM-CDG
Glycogen storage disease due to phosphoglucomutase deficiency

Synonym(s):
- CDGIt

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

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

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

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

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

No signs/symptoms info available.