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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 2

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

Pseudohypoaldosteronism type 2E

Aicardi-GoutiÃ¨res syndrome

CUL3	(UniProt - OMIM)		ADAR	(UniProt - OMIM)
			RNASEH2A	(UniProt - OMIM)
			RNASEH2B	(UniProt - OMIM)
			RNASEH2C	(UniProt - OMIM)
			SAMHD1	(UniProt - OMIM)
			TREX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3 CUL3	(0.63) (0.63)	ADAR SAMHD1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Aicardi-GoutiÃ¨res syndrome
	Synonym(s): - PHA2E		Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the nervous system -

	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: child / adolescent Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C535607

Aicardi-GoutiÃ¨res syndrome
	Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Microcephaly - Plagiocephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus
Pseudohypoaldosteronism type 2E
(no data available)