ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Congenital bile acid synthesis defect type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	HSD3B7

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Congenital bile acid synthesis defect type 1
	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): - 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the digestive system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535442


COMMON SIGNS	- Autosomal recessive inheritance

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Congenital bile acid synthesis defect type 1
	Very frequent - Hypoglycemia - Short stature / dwarfism / nanism - Storage liver disease		Very frequent - Abnormal hepatic enzymes / transaminases - Failure to thrive / difficulties for feeding in infancy / growth delay - Functional anomalies of the liver and the biliary tract - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Malabsorption / chronic diarrhea / steatorrhea Frequent - Clotting / hemostasis disorders - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Splenomegaly Occasional - Cirrhosis - Early death / lethality - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Night blindness / hemeralopia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Peripheral neuropathy - Pruritus / itching