ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
17 signs/symptoms

Pseudohypoaldosteronism type 2E

Mitochondrial myopathy and sideroblastic anemia

CUL3	(UniProt - OMIM)		PUS1	(UniProt - OMIM)
			YARS2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	YARS2

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Mitochondrial myopathy and sideroblastic anemia
	Synonym(s): - PHA2E		Synonym(s): - MLASA - MSA - Myopathy, lactic acidosis and sideroblastic anemia

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic 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 / 1 000 000 Average age onset: adolescence / young Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536101

Mitochondrial myopathy and sideroblastic anemia
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Anaemia - Distichiasis / double row of lashes - High vaulted / narrow palate - Hypotonia - Long philtrum - Metabolic anomalies - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy Frequent - Glaucoma - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Microcephaly - Scoliosis - Short / small nose
Pseudohypoaldosteronism type 2E
(no data available)