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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
Constitutional mismatch repair deficiency syndrome
1 OMIM reference -
4 associated genes
No signs/symptoms info
Glycogen storage disease due to aldolase A deficiency
Constitutional mismatch repair deficiency syndrome

ALDOA
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ALDOA
(0.63)
MLH1


Citations in the biomedical literature:


Glycogen storage disease due to aldolase A deficiency
ALDOA
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Glycogen storage disease due to aldolase A deficiency
Constitutional mismatch repair deficiency syndrome

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):
- CMMR-D syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
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: -
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.