MCID: RRM002
MIFTS: 15

Rrm2b-Related Mitochondrial Disease

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rrm2b-Related Mitochondrial Disease

MalaCards integrated aliases for Rrm2b-Related Mitochondrial Disease:

Name: Rrm2b-Related Mitochondrial Disease 25 6

Characteristics:

GeneReviews:

25
Penetrance The clinical manifestations of rrm2b-related disorders are similar in males and females.

Classifications:



Summaries for Rrm2b-Related Mitochondrial Disease

MalaCards based summary : Rrm2b-Related Mitochondrial Disease is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss. An important gene associated with Rrm2b-Related Mitochondrial Disease is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B).

GeneReviews: NBK195854

Related Diseases for Rrm2b-Related Mitochondrial Disease

Graphical network of the top 20 diseases related to Rrm2b-Related Mitochondrial Disease:



Diseases related to Rrm2b-Related Mitochondrial Disease

Symptoms & Phenotypes for Rrm2b-Related Mitochondrial Disease

Drugs & Therapeutics for Rrm2b-Related Mitochondrial Disease

Search Clinical Trials , NIH Clinical Center for Rrm2b-Related Mitochondrial Disease

Genetic Tests for Rrm2b-Related Mitochondrial Disease

Anatomical Context for Rrm2b-Related Mitochondrial Disease

Publications for Rrm2b-Related Mitochondrial Disease

Articles related to Rrm2b-Related Mitochondrial Disease:

(show all 15)
# Title Authors PMID Year
1
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. 61 25
23107649 2012
2
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. 25
21378381 2011
3
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. 25
21951382 2011
4
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. 25
21646632 2011
5
Mitochondrial DNA depletion syndromes--many genes, common mechanisms. 25
20444604 2010
6
2.6 A X-ray crystal structure of human p53R2, a p53-inducible ribonucleotide reductase . 25
19728742 2009
7
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. 25
19616983 2009
8
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. 25
19664747 2009
9
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 25
19667227 2009
10
Clinical and molecular features of mitochondrial DNA depletion syndromes. 25
19125351 2009
11
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 25
19138848 2009
12
Diagnosis of mitochondrial DNA depletion syndromes. 25
19103785 2009
13
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. 25
18504129 2008
14
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 25
17486094 2007
15
RRM2B-Related Mitochondrial Disease 61
24741716 2014

Variations for Rrm2b-Related Mitochondrial Disease

ClinVar genetic disease variations for Rrm2b-Related Mitochondrial Disease:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RRM2B NM_001172477.1(RRM2B):c.538-2A>C SNV Pathogenic 132110 rs515726185 GRCh37: 8:103237248-103237248
GRCh38: 8:102225020-102225020
2 RRM2B NM_001172477.1(RRM2B):c.800del (p.Gly267fs) Deletion Pathogenic 132119 rs515726193 GRCh37: 8:103231142-103231142
GRCh38: 8:102218914-102218914
3 RRM2B NM_001172477.1(RRM2B):c.1136del (p.Asn379fs) Deletion Pathogenic 132124 rs515726197 GRCh37: 8:103220497-103220497
GRCh38: 8:102208269-102208269
4 RRM2B NM_001172477.1(RRM2B):c.538-2A>G SNV Pathogenic 5387 rs515726185 GRCh37: 8:103237248-103237248
GRCh38: 8:102225020-102225020
5 RRM2B NM_001172477.1(RRM2B):c.1181dup (p.Asn394fs) Duplication Pathogenic 30433 rs515726201 GRCh37: 8:103220451-103220452
GRCh38: 8:102208223-102208224
6 RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 GRCh37: 8:103251055-103251055
GRCh38: 8:102238827-102238827
7 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) Deletion Pathogenic 30432 rs515726199 GRCh37: 8:103220467-103220467
GRCh38: 8:102208239-102208239
8 RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp) SNV Pathogenic 132104 rs515726181 GRCh37: 8:103244460-103244460
GRCh38: 8:102232232-102232232
9 RRM2B NM_001172477.1(RRM2B):c.338G>A (p.Arg113Gln) SNV Pathogenic 132105 rs200273673 GRCh37: 8:103244459-103244459
GRCh38: 8:102232231-102232231
10 RRM2B NM_001172477.1(RRM2B):c.338G>C (p.Arg113Pro) SNV Pathogenic 132106 rs200273673 GRCh37: 8:103244459-103244459
GRCh38: 8:102232231-102232231
11 RRM2B NM_001172477.1(RRM2B):c.406T>C (p.Trp136Arg) SNV Pathogenic 132107 rs515726182 GRCh37: 8:103244391-103244391
GRCh38: 8:102232163-102232163
12 RRM2B NM_001172477.1(RRM2B):c.424G>A (p.Asp142Asn) SNV Pathogenic 132108 rs515726183 GRCh37: 8:103238259-103238259
GRCh38: 8:102226031-102226031
13 RRM2B NM_001172477.1(RRM2B):c.469_471del (p.Glu157del) Deletion Pathogenic 132109 rs515726184 GRCh37: 8:103238212-103238214
GRCh38: 8:102225984-102225986
14 RRM2B NM_001172477.1(RRM2B):c.544C>T (p.Arg182Cys) SNV Pathogenic 132112 rs515726186 GRCh37: 8:103237240-103237240
GRCh38: 8:102225012-102225012
15 RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His) SNV Pathogenic 5393 rs267607025 GRCh37: 8:103237239-103237239
GRCh38: 8:102225011-102225011
16 RRM2B NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) SNV Pathogenic 30436 rs387906892 GRCh37: 8:103244484-103244484
GRCh38: 8:102232256-102232256
17 RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His) SNV Pathogenic 5394 rs267607024 GRCh37: 8:103237206-103237206
GRCh38: 8:102224978-102224978
18 RRM2B NM_001172477.1(RRM2B):c.584T>C (p.Phe195Ser) SNV Pathogenic 132113 rs515726187 GRCh37: 8:103237200-103237200
GRCh38: 8:102224972-102224972
19 RRM2B NM_001172477.1(RRM2B):c.607G>A (p.Glu203Lys) SNV Pathogenic 132114 rs515726188 GRCh37: 8:103237177-103237177
GRCh38: 8:102224949-102224949
20 RRM2B NM_001172477.1(RRM2B):c.647C>T (p.Thr216Ile) SNV Pathogenic 132115 rs515726189 GRCh37: 8:103237137-103237137
GRCh38: 8:102224909-102224909
21 RRM2B NM_001172477.1(RRM2B):c.772A>G (p.Arg258Gly) SNV Pathogenic 132116 rs515726190 GRCh37: 8:103231170-103231170
GRCh38: 8:102218942-102218942
22 RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys) SNV Pathogenic 5388 rs121918308 GRCh37: 8:103231146-103231146
GRCh38: 8:102218918-102218918
23 RRM2B NM_001172477.1(RRM2B):c.797A>G (p.Glu266Gly) SNV Pathogenic 132117 rs515726191 GRCh37: 8:103231145-103231145
GRCh38: 8:102218917-102218917
24 RRM2B NM_001172477.1(RRM2B):c.799G>A (p.Gly267Arg) SNV Pathogenic 132118 rs515726192 GRCh37: 8:103231143-103231143
GRCh38: 8:102218915-102218915
25 RRM2B NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) SNV Pathogenic 30434 rs515726194 GRCh37: 8:103231120-103231120
GRCh38: 8:102218892-102218892
26 RRM2B NM_001172477.1(RRM2B):c.848G>A (p.Arg283Lys) SNV Pathogenic 132121 rs515726195 GRCh37: 8:103231094-103231094
GRCh38: 8:102218866-102218866
27 RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val) SNV Pathogenic 5392 rs121918311 GRCh37: 8:103226385-103226385
GRCh38: 8:102214157-102214157
28 RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser) SNV Pathogenic 132122 rs515726196 GRCh37: 8:103231055-103231055
GRCh38: 8:102218827-102218827
29 RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe) SNV Pathogenic 5390 rs121918309 GRCh37: 8:103226364-103226364
GRCh38: 8:102214136-102214136
30 RRM2B NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) SNV Pathogenic 30435 rs387906891 GRCh37: 8:103225090-103225090
GRCh38: 8:102212862-102212862
31 RRM2B NM_001172477.1(RRM2B):c.1062G>C (p.Met354Ile) SNV Pathogenic 132123 rs182614164 GRCh37: 8:103225061-103225061
GRCh38: 8:102212833-102212833
32 RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter) SNV Pathogenic 5386 rs121918307 GRCh37: 8:103225057-103225057
GRCh38: 8:102212829-102212829
33 RRM2B NM_001172477.1(RRM2B):c.1165T>G (p.Leu389Val) SNV Pathogenic 132125 rs515726198 GRCh37: 8:103220468-103220468
GRCh38: 8:102208240-102208240
34 RRM2B NM_001172477.1(RRM2B):c.1168G>T (p.Glu390Ter) SNV Pathogenic 132127 rs515726200 GRCh37: 8:103220465-103220465
GRCh38: 8:102208237-102208237
35 RRM2B NM_001172477.1(RRM2B):c.1195C>T (p.Arg399Ter) SNV Pathogenic 5391 rs121918310 GRCh37: 8:103220438-103220438
GRCh38: 8:102208210-102208210
36 RRM2B NM_001172477.1(RRM2B):c.1262C>G (p.Ala421Gly) SNV Pathogenic 132129 rs515726202 GRCh37: 8:103220371-103220371
GRCh38: 8:102208143-102208143

Expression for Rrm2b-Related Mitochondrial Disease

Search GEO for disease gene expression data for Rrm2b-Related Mitochondrial Disease.

Pathways for Rrm2b-Related Mitochondrial Disease

GO Terms for Rrm2b-Related Mitochondrial Disease

Sources for Rrm2b-Related Mitochondrial Disease

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