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ONTOLOGY REPORT - ANNOTATIONS


Term:Mitochondrial Complex I Deficiency, Nuclear Type 1
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Accession:DOID:9009266 term browser browse the term
Definition:Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders. It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Mitochondrial complex I deficiency nuclear type 1 (MC1DN1) is caused by homozygous mutation in the NDUFS4 gene on chromosome 5q11. (OMIM)
Synonyms:exact_synonym: MC1DN1
 primary_id: OMIM:252010
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex I Deficiency, Nuclear Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 9 10,334,104 10,338,163 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 8 117,351,628 117,353,460 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 9 65,478,496 65,488,708 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
RGD:7240710
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:8554872

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  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          mitochondrial complex I deficiency 57
            Mitochondrial Complex I Deficiency, Nuclear Type 1 11
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  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          inherited metabolic disorder 1877
            mitochondrial metabolism disease 308
              mitochondrial complex I deficiency 57
                Mitochondrial Complex I Deficiency, Nuclear Type 1 11
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