MCID: MTC033
MIFTS: 18

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:

Name: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form 59 29
Mtdna Depletion Syndrome, Encephalomyopathic Form 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial dna depletion syndrome, encephalomyopathic form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA254803

Summaries for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, also known as mtdna depletion syndrome, encephalomyopathic form, is related to mitochondrial dna depletion syndrome and mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria. An important gene associated with Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle.

Related Diseases for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Diseases related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 28.9 SUCLG1 SUCLA2 RRM2B
2 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.9
3 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.9
4 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.9
5 mitochondrial dna depletion syndrome 8a 12.5
6 mitochondrial dna depletion syndrome 5 12.4
7 mitochondrial dna depletion syndrome 13 11.9
8 rrm2b-related mitochondrial dna depletion syndrome 11.7
9 mohr-tranebjaerg syndrome 11.6
10 methylmalonic acidemia 10.4
11 dystonia 10.4
12 hypotonia 10.4
13 gastroesophageal reflux 10.2
14 mitochondrial dna depletion syndrome 9 10.2
15 kearns-sayre syndrome 10.2
16 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
17 west syndrome 10.2
18 scoliosis 10.2
19 ptosis 10.2
20 sensorineural hearing loss 10.2
21 lactic acidosis 10.2
22 muscular atrophy 10.2
23 hypoglycemia 10.2
24 microcephaly 10.2
25 hypertrophic cardiomyopathy 10.2
26 cerebral atrophy 10.2
27 hypertonia 10.2
28 myoclonus 10.2
29 mitochondrial encephalomyopathy 9.5 SUCLG1 SUCLA2
30 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 9.2 SUCLG1 SUCLA2
31 mitochondrial metabolism disease 8.8 SUCLG1 SUCLA2 RRM2B

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:



Diseases related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Genetic Tests for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Genetic tests related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Publications for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Articles related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:

# Title Authors PMID Year
1
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
28358460 2017
2
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
20301762 2009

Variations for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Expression for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form.

Pathways for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

GO Terms for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Cellular components related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.96 SUCLG1 SUCLA2
2 mitochondrion GO:0005739 8.8 SUCLG1 SUCLA2 RRM2B

Biological processes related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.16 SUCLG1 SUCLA2
2 succinate metabolic process GO:0006105 8.96 SUCLG1 SUCLA2
3 succinyl-CoA metabolic process GO:0006104 8.62 SUCLG1 SUCLA2

Molecular functions related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.16 SUCLG1 SUCLA2
2 ligase activity GO:0016874 8.96 SUCLG1 SUCLA2
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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