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Glycogen storage disease due to aldolase A deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
Glycogen storage disease due to aldolase A deficiency
Primary biliary cirrhosis

ALDOA
(UniProt - OMIM)
 IL12A
(UniProt - OMIM)
IL12RB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)
MMEL1
(UniProt)
POU2AF1
(UniProt - OMIM)
SPIB
(UniProt - OMIM)
TNFSF15
(UniProt - OMIM)
TNPO3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ALDOA
(0.63)
TNPO3


Citations in the biomedical literature:


Glycogen storage disease due to aldolase A deficiency
ALDOA
Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3



Glycogen storage disease due to aldolase A deficiency
Primary biliary cirrhosis

Synonym(s):
- GSD due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis due to aldolase A deficiency
- Glycogenosis type 12
Synonym(s):
- Hanot syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.