OBO ID: DOID:0070331
Term Name: mitochondrial DNA depletion syndrome 8b Search Ontology:
Synonyms:
  • mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Definition: A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (3)
References:
Ontology: Human Disease   (DOID:0070331)
OTHER mitochondrial DNA depletion syndrome 8b 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