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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Jalili syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

Pseudohypoaldosteronism type 2E

Jalili syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	CNNM4

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Jalili syndrome
	Synonym(s): - PHA2E		Synonym(s): - Cone rod dystrophy - amelogenesis imperfecta

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the eye and adnexa -

	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: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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

Jalili syndrome
	Very frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Autosomal recessive inheritance - Dental staining anomaly / spotted teeth / erythrodontia - Enamel anomaly - Mild visual loss / impaired visual acuity - Nystagmus - Photophobia - Retinitis pigmentosa / retinal pigmentary changes Frequent - Optic nerve anomaly / optic atrophy / anomaly of the papilla
Pseudohypoaldosteronism type 2E
(no data available)