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 58 29
Mtdna Depletion Syndrome, Encephalomyopathic Form 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, encephalomyopathic form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E88.8
Orphanet 58 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 methylmalonic acidemia and kearns-sayre syndrome. 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 methylmalonic acidemia 29.9 SUCLG1 SUCLA2
2 kearns-sayre syndrome 29.8 SUCLG1 RRM2B
3 lactic acidosis 29.7 SUCLG1 RRM2B
4 mitochondrial dna depletion syndrome 29.3 SUCLG1 SUCLA2 RRM2B
5 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.9
6 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.9
7 mitochondrial dna depletion syndrome 5 12.8
8 mitochondrial dna depletion syndrome 8a 12.5
9 mitochondrial dna depletion syndrome 13 11.9
10 mohr-tranebjaerg syndrome 11.6
11 dystonia 10.4
12 hypotonia 10.4
13 gastroesophageal reflux 10.2
14 mitochondrial dna depletion syndrome 9 10.2
15 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
16 west syndrome 10.2
17 scoliosis 10.2
18 ptosis 10.2
19 sensorineural hearing loss 10.2
20 microcephaly 10.2
21 muscular atrophy 10.2
22 hypoglycemia 10.2
23 hypertrophic cardiomyopathy 10.2
24 cerebral atrophy 10.2
25 hypertonia 10.2
26 myoclonus 10.2
27 mitochondrial dna depletion syndrome 7 9.7 SUCLG1 RRM2B
28 mitochondrial encephalomyopathy 9.5 SUCLG1 SUCLA2
29 leigh syndrome 9.2 SUCLG1 SUCLA2
30 mitochondrial metabolism disease 9.1 SUCLG1 SUCLA2 RRM2B
31 3-methylglutaconic aciduria, type iii 9.1 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 61
28358460 2017
2
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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