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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
8 signs/symptoms

Pseudohypoaldosteronism type 2E

TARP syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	RBM10

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		TARP syndrome
	Synonym(s): - PHA2E		Synonym(s): - Pierre Robin sequence - congenital heart defect - talipes - Pierre Robin syndrome - congenital heart defect - talipes - Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare surgical cardiac disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 - 1 MeSH reference: C536942

TARP syndrome
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism - X-linked recessive inheritance Frequent - Low set ears / posteriorly rotated ears - Undescended / ectopic testes / cryptorchidia / unfixed testes
Pseudohypoaldosteronism type 2E
(no data available)