mitochondrial DNA depletion syndrome 8b

Term ID

DOID:0070331

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. (2)

References

• MESH:C536350
• MIM:612075

Ontology

Human Disease   ( DOID:0070331 )