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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Triple A syndrome

2 OMIM references -
2 associated genes
18 signs/symptoms

Pseudohypoaldosteronism type 2E

Triple A syndrome

CUL3	(UniProt - OMIM)		AAAS	(UniProt - OMIM)
			GMPPA	(UniProt - OMIM)


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

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Triple A syndrome
	Synonym(s): - PHA2E		Synonym(s): - 2A syndrome - 3A syndrome - 4A syndrome - AAA syndrome - Achalasia - addisonianism - alacrima syndrome - Adrenal insufficiency - achalasia - alacrima - Allgrove syndrome - Double A syndrome - Quaternary A syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye 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: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Triple A syndrome
	Very frequent - Autosomal recessive inheritance - Cortico-adrenal hypoplasia / insufficiency - Diffuse / generalised skin hyperpigmentation / melanoderma - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Mild visual loss / impaired visual acuity - Palmoplantar hyperkeratosis / keratoderma - Short stature / dwarfism / nanism Occasional - Ataxia / incoordination / trouble of the equilibrium - Coloboma of iris - Hypereflexia - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia - Microcephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sensorineural deafness / hearing loss
Pseudohypoaldosteronism type 2E
(no data available)