mitochondrial DNA depletion syndrome 6

Term ID

DOID:0080125

Synonyms

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neurohepatopathy

Definition

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. (4)

References

• GARD:3972
• MESH:C538344
• MIM:256810
• ORDO:255229

Ontology

Human Disease   ( DOID:0080125 )