Please note: Any medical or genetic information present in this entry is not intended as a diagnosis of your problem, but rather is provided as a helpful guide for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Information is not necessarily complete. Please see your doctor for diagnosis and treatment.

Please note: DNAtraffic database is the project under construction and information on this page is not finished yet.

mitochondrial DNA depletion syndrome 8B (MNGIE type)

Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).

ABREVIATION(S):
MTDP8B
MNGIE type

TYPE: neurodegenerative disease, eye or vision problem, mental retardation (MR)

Related patway(s): modulation of nucleotide pools

DNAtraffic protein(s) related to disease: RRM2B

OMIM: 612075

Last modification date: July 30, 2011