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PGM-CDG
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to phosphoglucomutase deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant limb-girdle muscular dystrophy type 1D
B-cell chronic lymphocytic leukemia
Dyskeratosis congenita
Glycogen storage disease due to muscle beta-enolase deficiency
Hoyeraal-Hreidarsson syndrome
Retinopathy - anemia- central nervous system anomalies
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial leiomyomatosis
Fumaric aciduria
Primary hyperoxaluria type 2
Transaldolase deficiency
Synonym(s):
- CDGIt

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PGM1 P36871171900
No signs/symptoms info available.