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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Galactokinase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

Pseudohypoaldosteronism type 2E

Galactokinase deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	GALK1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Galactokinase deficiency
	Synonym(s): - PHA2E		Synonym(s): - GALK deficiency - GALK-D - Galactokinase deficiency galactosemia - Galactosemia type 2

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare hepatic disease - Rare renal 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: 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: C535999

Galactokinase deficiency
	Very frequent - Autosomal recessive inheritance - Cataract / lens opacification - Metabolic anomalies
Pseudohypoaldosteronism type 2E
(no data available)