Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Glycogen storage disease due to aldolase A deficiency
Congenital glaucoma

ALDOA CYP1B1
LTBP2
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALDOA
(0.65)
MYOC



Citations in the biomedical literature:


Glycogen storage disease due to aldolase A deficiency
ALDOA
Congenital glaucoma
CYP1B1 LTBP2 MYOC



Glycogen storage disease due to aldolase A deficiency
Congenital glaucoma

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):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.