ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

Pseudohypoaldosteronism type 2E

Autosomal dominant optic atrophy plus syndrome

CUL3	(UniProt - OMIM)		MFN2	(UniProt - OMIM)
			OPA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	OPA1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Autosomal dominant optic atrophy plus syndrome
	Synonym(s): - PHA2E		Synonym(s): - DOA+ - Optic atrophy - deafness- polyneuropathy - myopathy

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the ear and mastoid process -

	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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Autosomal dominant optic atrophy plus syndrome
	Very frequent - Autosomal dominant inheritance - Insensitivity to pain - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Areflexia / hyporeflexia - Mild visual loss / impaired visual acuity Occasional - Abnormal VEP / Visual evoked potential - Nerve conduction abnormality - Strabismus / squint
Pseudohypoaldosteronism type 2E
(no data available)