ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
10 signs/symptoms

Pseudohypoaldosteronism type 2E

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

CUL3	(UniProt - OMIM)		MCCC1	(UniProt - OMIM)
			MCCC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	MCCC2

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Isolated 3-methylcrotonyl-CoA carboxylase deficiency
	Synonym(s): - PHA2E		Synonym(s): - 3-methylcrotonylglycinuria - MCC deficiency - MCCD

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535308

Isolated 3-methylcrotonyl-CoA carboxylase deficiency
	Very frequent - Hypoglycemia - Hypotonia - Metabolic anomalies - Organic acid metabolism anomalies Frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperammonemia - Movement disorder Occasional - Cerebral vascular anomalies - Hypertonia / spasticity / rigidity / stiffness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction
Pseudohypoaldosteronism type 2E
(no data available)