DISEASES

Disease-gene associations mined from literature

Human genes for mitochondrial DNA depletion syndrome 6

Mitochondrial DNA depletion syndrome 6 [DOID:0080125]

A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.

Synonyms:  mitochondrial DNA depletion syndrome 6,  DOID:0080125,  MPV17-related hepatocerebral mitochondrial DNA depletion syndrome,  Navajo neurohepatopathy,  MPV17related hepatocerebral mitochondrial DNA depletion syndrome ...