ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
28 signs/symptoms

Primary hyperoxaluria type 2

Peroxisomal acyl-CoA oxidase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GRHPR	(0.49)	ACOX1

Citations in the biomedical literature:

Primary hyperoxaluria type 2		Peroxisomal acyl-CoA oxidase deficiency
	Synonym(s): - D-glycerate dehydrogenase deficiency - L-glyceric aciduria		Synonym(s): - Pseudo-NALD - Pseudo-neonatal adrenoleukodystrophy - Pseudoadrenoleukodystrophy

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536662

Peroxisomal acyl-CoA oxidase deficiency
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Abnormal gait - Abnormal VEP / Visual evoked potential - Autosomal recessive inheritance - EEG anomalies - Hypereflexia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic anomalies - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Structural anomalies of the nervous system Frequent - Death in infancy - Depressed nasal bridge - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatomegaly / liver enlargement (excluding storage disease) - Hypertelorism - Low set ears / posteriorly rotated ears - Myopia - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Strabismus / squint Occasional - Hypertonia / spasticity / rigidity / stiffness - Upper limb polydactyly / hexadactyly
Primary hyperoxaluria type 2
(no data available)