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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency

AHCY PYGL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AHCY
(0.63)
PYGL



Citations in the biomedical literature:


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
AHCY
Glycogen storage disease due to liver glycogen phosphorylase deficiency
PYGL



Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency

Synonym(s):
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

Synonym(s):
- GSD due to liver glycogen phosphorylase deficiency
- GSD type 6B
- Glycogen storage disease type 6B
- Glycogenosis due to liver glycogen phosphorylase deficiency
- Glycogenosis type 6B
- Hepatic glycogen phosphorylase deficiency
- Hepatic phosphorylase deficiency
- Hers disease
- Liver glycogen phosphorylase deficiency

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
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

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Very frequent
- Autosomal recessive inheritance
- Hypoglycemia
- Short stature / dwarfism / nanism
- Storage liver disease



Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

(no data available)