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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Pseudohypoaldosteronism type 2E

DPAGT1-CDG

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	DPAGT1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		DPAGT1-CDG
	Synonym(s): - PHA2E		Synonym(s): - CDG syndrome type Ij - CDG-Ij - CDG1J - Carbohydrate deficient glycoprotein syndrome type Ij - Congenital disorder of glycosylation type 2j - Congenital disorder of glycosylation type Ij - Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - 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: <1 / 1 000 000 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 - No MeSH references

DPAGT1-CDG
	Very frequent - Clinodactyly of fifth finger - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus
Pseudohypoaldosteronism type 2E
(no data available)