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Metadata
ID DOID:0080125
Name mitochondrial DNA depletion syndrome 6
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.
https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/29282788, https://www.ncbi.nlm.nih.gov/pubmed/30298599, https://www.omim.org/entry/256810
Xrefs

GARD:3972

MESH:C538344

OMIM:256810

ORDO:255229

Synonyms

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome [EXACT]

Navajo neurohepatopathy [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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