OBO ID: DOID:0080127
Term Name: mitochondrial DNA depletion syndrome 8a Search Ontology:
Synonyms:
  • RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Definition: A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (5)
References:
Ontology: Human Disease   (DOID:0080127)
OTHER mitochondrial DNA depletion syndrome 8a PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RRM2B Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None