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: mitochondrial oxidative phosphorylation disorder (MONDO:0016387)
..Starting node ..mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies ()
Child Nodes:
........Charcot-Marie-Tooth disease recessive intermediate d ()
........Charcot-Marie-Tooth disease type 4K ()
........coenzyme Q10 deficiency ()
........congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome () L: 00045;
........fatal infantile encephalocardiomyopathy ()
........Leigh disease ()
........lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome () L: 00522;
........mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ()
........mitochondrial disorder due to a defect in mitochondrial protein synthesis ()
........mitochondrial DNA maintenance syndrome ()
........mitochondrial oxidative phosphorylation disorder with no known mechanism ()
........pancreatic insufficiency-anemia-hyperostosis syndrome ()
Sister Nodes:
..combined oxidative phosphorylation deficiency ()
..isolated oxidative phosphorylation complex disorder ()
..mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies ()
..mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16578
Name:	mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Definition:	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).
Alternative IDs:
ParentIDs:
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Synonyms:	mitochondrial oxidative phosphorylation disorder due to nDNA anomalies; OXPHOS disease due to nDNA anomalies; OXPHOS disease due to nuclear DNA anomalies
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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