ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Pseudohypoaldosteronism type 2E

Oculopharyngeal muscular dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	PABPN1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Oculopharyngeal muscular dystrophy
	Synonym(s): - PHA2E		Synonym(s): - OPMD

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare eye disease - 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: 1-9 / 100 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D039141

Oculopharyngeal muscular dystrophy
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anomaly of the pharynx / pharyngeal anomaly - Autosomal dominant inheritance - Autosomal recessive inheritance - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Ptosis Occasional - Expressionless face / amimia
Pseudohypoaldosteronism type 2E
(no data available)