| Disease Browser
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Parent Node:
 Mitochondrial Diseases (D028361) | Parent Node:
Ophthalmoplegia, Chronic Progressive External (D017246) | ..Starting node
.. Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
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Child Nodes:
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Sister Nodes: | ..Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
| ..Kearns-Sayre Syndrome (D007625)  1
| ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 (C563750)
| ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 (C563747)
| ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 (C566437)
| ..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| 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;
Genes: RRM2B; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter) | 50484 | RRM2B | Pathogenic | 121918310 | RCV000005722; RCV000197531; RCV000119016; | N | MedGen:C2751319,OMIM:613077; MedGen:CN187502; MedGen:CN221809 | 8 | 103220438 | 103220438 | NM_015713.4:c.979C>T | NP_056528.2:p.Arg327Ter | NC_000008.10:g.103220438G>A | OMIM Allelic Variant:604712.0006 | C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5; CN221809 not provided; CN187502 RRM2B-related mitochondrial disease | | | | NM_015713.4(RRM2B):c.965dupA (p.Asn322Lysfs) | 50484 | RRM2B | Pathogenic | 515726201 | RCV000023386; RCV000119015; | N | MedGen:C2751319,OMIM:613077; MedGen:CN187502 | 8 | 103220452 | 103220452 | NM_015713.4:c.965dupA | NP_056528.2:p.Asn322Lysfs | | OMIM Allelic Variant:604712.0011 | C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5; CN187502 RRM2B-related mitochondrial disease | | | | NM_015713.4(RRM2B):c.950delT (p.Leu317Terfs) | 50484 | RRM2B | Pathogenic | 515726199 | RCV000023385; RCV000119013; | N | MedGen:C2751319,OMIM:613077; MedGen:CN187502 | 8 | 103220467 | 103220467 | NM_015713.4:c.950delT | NP_056528.2:p.Leu317Terfs | | OMIM Allelic Variant:604712.0010 | C2751319 613077 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5; CN187502 RRM2B-related mitochondrial disease | | |
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