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mitochondrial DNA depletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018158

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. [ Orphanet:35698 ]

Term info

database cross reference
  • UMLS:CN239350 (MONDO:equivalentTo)
  • MedDRA:10059396 (Orphanet:35698/e)
  • DOID:0070329 (MONDO:equivalentTo)
  • OMIMPS:603041 (MONDO:equivalentTo)
  • Orphanet:35698 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10059396

definition

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_35698, http://linkedlifedata.com/resource/umls/id/CN239350, http://purl.obolibrary.org/obo/DOID_0070329, https://omim.org/phenotypicSeries/PS603041

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015188

has exact synonym

mtDNA depletion syndrome

id

MONDO:0018158