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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 8A
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Accession:DOID:0080127 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: MNGIE Disease;   MNGIE Syndrome;   MTDPS8A;   Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction;   Mitochondrial Neurogastrointestinal Encephalopathy Disease;   Mitochondrial Neurogastrointestinal Encephalopathy Syndrome;   Mngie Without Leukoencephalopathy;   Myoneurogastrointestinal encephalopathy syndrome;   Oculogastrointestinal Muscular Dystrophy;   POLIP Syndrome;   Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction;   RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy;   mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);   mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction;   thymidine phosphorylase deficiency
 narrow_synonym: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE;   MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE);   MNGIE, RRM2B-RELATED;   NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
 broad_synonym: RRM2B-related mitochondrial disease
 primary_id: MESH:C537477
 alt_id: OMIM:612075;   RDO:0003322;   RDO:0009591
 xref: GARD:13200
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mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872

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  disease 15619
    syndrome 5154
      mitochondrial DNA depletion syndrome 8A 4
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    mitochondrial myopathy 75
                      mitochondrial encephalomyopathy 46
                        mitochondrial DNA depletion syndrome 8A 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.