ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Primary hyperoxaluria type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUCLA2	(0.49)	GRHPR

Citations in the biomedical literature:

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		Primary hyperoxaluria type 2
	Synonym(s): - Booth-Haworth-Dilling syndrome - Mitochondrial encephalomyopathy - aminoacidopathy - mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		Synonym(s): - D-glycerate dehydrogenase deficiency - L-glyceric aciduria

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

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

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

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

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Abnormal VEP / Visual evoked potential - Aminoacid metabolism anomalies / aminoaciduria - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Central deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Hirsutism / hypertrichosis / Increased body hair - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications - Microcephaly - Mild visual loss / impaired visual acuity - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Nerve conduction abnormality - Psychic / behavioural troubles - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
Primary hyperoxaluria type 2
(no data available)