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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 without leukoencephalopathy;   MTDPS8A;   Mitochondrial Neurogastrointestinal Encephalopathy Disease;   Mitochondrial Neurogastrointestinal Encephalopathy Syndrome;   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;   mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction;   oculogastrointestinal muscular dystrophy;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction;   thymidine phosphorylase deficiency
 narrow_synonym: MNGIE, RRM2B-related;   encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy, autosomal recessive;   mitochondrial neurogastrointestinal syndrome
 broad_synonym: RRM2B-related mitochondrial disease
 primary_id: MESH:C537477
 alt_id: OMIM:612075
 xref: GARD:13200



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mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G LOC130000896 ATAC-STARR-seq lymphoblastoid active region 27747 IAGP ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a
ClinVar PMID:9536098 PMID:17576681 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 8:102,238,785...102,238,884 JBrowse link
G LOC130000897 ATAC-STARR-seq lymphoblastoid silent region 19436 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a ClinVar NCBI chr 8:102,238,955...102,239,384 JBrowse link
G LOC130067861 ATAC-STARR-seq lymphoblastoid silent region 13985 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:25741868 NCBI chr22:50,525,270...50,525,569 JBrowse link
G LOC130067862 ATAC-STARR-seq lymphoblastoid silent region 13986 IAGP ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:50,525,780...50,526,609 JBrowse link
G LOC130067864 ATAC-STARR-seq lymphoblastoid active region 19325 IAGP ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:9924029 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16199547 More... NCBI chr22:50,529,260...50,529,419 JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Neurogastrointestinal syndrome, mitochondrial ClinVar PMID:15054399 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:50,508,224...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,330,208...89,333,809
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar
OMIM
PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G TYMP thymidine phosphorylase IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      mitochondrial DNA depletion syndrome 8A 13
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        peripheral nervous system disease 5330
          neuropathy 5078
            neuromuscular disease 4022
              muscular disease 2788
                muscle tissue disease 1704
                  myopathy 1379
                    mitochondrial myopathy 179
                      mitochondrial encephalomyopathy 119
                        mitochondrial DNA depletion syndrome 8A 13
paths to the root