ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Pseudohypoaldosteronism type 2E

Connective tissue disorder due to lysyl hydroxylase-3 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	PLOD3

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Connective tissue disorder due to lysyl hydroxylase-3 deficiency
	Synonym(s): - PHA2E		Synonym(s): - Bone fragility-contractures-arterial rupture-deafness syndrome - Connective tissue disorder due to LH3 deficiency

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

No signs/symptoms info available.