ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Aneurysm - osteoarthritis syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.56)	SMAD3

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Aneurysm - osteoarthritis syndrome
	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		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	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
Aneurysm - osteoarthritis syndrome
(no data available)