MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9316
Name:Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Definition:
Alternative IDs:OMIM:613077
ParentIDs:MESH:D017246|MESH:D028361
TreeNumbers:C05.651.460.700/C567768 |C10.292.562.750.250/C567768 |C10.292.562.775/C567768 |C10.597.622.447.511/C567768 |C10.668.491.500.700/C567768 |C11.590.472.250/C567768 |C11.590.641/C567768 |C18.452.660.560.700/C567768 |C18.452.660/C567768 |C23.888.592.636.447.511/C56776
Synonyms:Peoa5 |Progressive External Ophthalmoplegia, Autosomal Dominant, 5
Slim Mappings:Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567768
MeSH: C567768
OMIM: 613077;
MSeqDR LSDB: 00049;  
Genes: RRM2B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000739Anxiety
NAMDC:  Anxiety
rare
3 HP:0001260Dysarthria
NAMDC:  Dysarthria
4 HP:0002015Dysphagia
NAMDC:  Dysphagia
rare
5 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
6 HP:0002066Gait ataxiarare
7 HP:0000501Glaucomarare
8 HP:0000365Hearing impairmentrare
9 HP:0001265Hyporeflexiarare
10 HP:0003750Increased muscle fatiguability
11 HP:0003689Multiple mitochondrial DNA deletions
12 HP:0000590Progressive external ophthalmoplegia
13 HP:0000508Ptosis
NAMDC:  Ptosis
rare
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter)50484RRM2BPathogenic121918310RCV000005722; RCV000119016; RCV000197531; NMedGen:C2751319,OMIM:613077; MedGen:CN187502; MedGen:CN5172028103220438103220438OMIM Allelic Variant:604712.0006C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5;
NM_015713.4(RRM2B):c.965dupA (p.Asn322Lysfs)50484RRM2BPathogenic515726201RCV000023386; RCV000119015; NMedGen:C2751319,OMIM:613077; MedGen:CN1875028103220452103220452OMIM Allelic Variant:604712.0011C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5;
NM_015713.4(RRM2B):c.950delT (p.Leu317Terfs)50484RRM2BPathogenic515726199RCV000023385; RCV000508947; RCV000119013; NMedGen:C2751319,OMIM:613077; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN1875028103220467103220467OMIM Allelic Variant:604712.0010C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000048392 MSeqDR Search EnsemblRRM2B113ribonucleotide reductase M2 B (TP53 inducible) [Source:HGNC Symbol;Acc:17296]00049

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