MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: metabolic disease with intestinal involvement (MONDO:0015188)
Parent Node: mitochondrial DNA maintenance syndrome (MONDO:0018121)
..Starting node ..mitochondrial DNA depletion syndrome ()
Child Nodes:
........mitochondrial DNA depletion syndrome 1 () L: 00026;
........mitochondrial DNA depletion syndrome 11 () L: 00027;
........mitochondrial DNA depletion syndrome 12 () L: 00028;
........mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant () L: 00527;
........mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) () L: 00505;
........mitochondrial DNA depletion syndrome 15 (hepatocerebral type); () L: 00506;
........mitochondrial DNA depletion syndrome 4b () L: 00033;
........mitochondrial DNA depletion syndrome, encephalomyopathic form ()
........mitochondrial DNA depletion syndrome, hepatocerebral form ()
........mitochondrial DNA depletion syndrome, myopathic form () L: 00030;
........Sengers syndrome () L: 00403;
........spastic ataxia 5 ()
Sister Nodes:
..mitochondrial DNA depletion syndrome ()
..mitochondrial neurogastrointestinal encephalomyopathy ()
..multiple mitochondrial DNA deletion syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18158
Name:	mitochondrial DNA depletion syndrome
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 (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	mtDNA depletion syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal