ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Pseudohypoaldosteronism type 2E

Glycogen storage disease due to glycogen debranching enzyme deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	AGL

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Glycogen storage disease due to glycogen debranching enzyme deficiency
	Synonym(s): - PHA2E		Synonym(s): - Amylo-1,6-glucosidase deficiency - Cori disease - Cori-Forbes disease - Forbes disease - GDE deficiency - GSD due to glycogen debranching enzyme deficiency - GSD type 3 - GSDIII - Glycogen storage disease type 3 - Glycogenosis due to glycogen debranching enzyme deficiency - Glycogenosis type 3 - Limit dextrinosis

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age 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 glycogen debranching enzyme deficiency
	Very frequent - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Hypoglycemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism - Storage liver disease Frequent - Myopathy
Pseudohypoaldosteronism type 2E
(no data available)