ODCs

Click node...

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

Autosomal recessive Kenny-Caffey syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	TBCE

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Autosomal recessive Kenny-Caffey 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): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine 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: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - 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
Autosomal recessive Kenny-Caffey syndrome
(no data available)