MCID: RRM001
MIFTS: 12

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards integrated aliases for Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy:

Name: Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 24
Mitochondrial Dna Depletion Syndrome 8a 25 69
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 25
Rrm2b-Mds 25
Mtdps8a 25

Classifications:



Summaries for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Genetics Home Reference : 25 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy). Many affected individuals also have a kidney dysfunction known as renal tubulopathy.

MalaCards based summary : Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy, also known as mitochondrial dna depletion syndrome 8a, is related to mitochondrial dna depletion syndrome 8a and rrm2b-related mitochondrial dna depletion syndrome, and has symptoms including cachexia, seizures and gait ataxia. An important gene associated with Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Affiliated tissues include kidney and brain.

Related Diseases for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Diseases related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 8a 12.6
2 rrm2b-related mitochondrial dna depletion syndrome 11.2

Symptoms & Phenotypes for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

UMLS symptoms related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy:


cachexia, seizures, gait ataxia

Drugs & Therapeutics for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Search Clinical Trials , NIH Clinical Center for Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy

Genetic Tests for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Genetic tests related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy:

id Genetic test Affiliating Genes
1 Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 24 RRM2B

Anatomical Context for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards organs/tissues related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy:

39
Kidney, Brain

Publications for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Variations for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Expression for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Search GEO for disease gene expression data for Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy.

Pathways for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

GO Terms for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

Sources for Rrm2b-Related Mitochondrial Dna Depletion Syndrome,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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42 MeSH
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55 OMIM via Orphanet
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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