Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁹ ORPHA254803

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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.

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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:

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Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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

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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

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Anatomical Context for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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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	El-Hattab AW...Scaglia F	28358460	2017
2	SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria ³⁸	El-Hattab AW...Scaglia F	20301762	2009

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Genes for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

Genes related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	19.27	GeneCards inferred via : Variants (show sections)
2	SUCLA2	Succinate-CoA Ligase ADP-Forming Beta Subunit	Protein Coding	17.52	GeneCards inferred via : Publications (show sections)
3	SUCLG1	Succinate-CoA Ligase Alpha Subunit	Protein Coding	17.52	GeneCards inferred via : Publications (show sections)

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Variations for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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Expression for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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

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Pathways for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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

#	Super pathways	Score	Top Affiliating Genes
1	Carbon metabolism ³⁷ Show member pathways 2-Oxocarboxylic acid metabolism ³⁷ Biosynthesis of amino acids ³⁷ formaldehyde oxidation ¹	11.65	SUCLG1 SUCLA2
2	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁶ Show member pathways Citric acid cycle (TCA cycle) ⁶⁶ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁶ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁶ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁶ TCA Cycle ¹	11.37	SUCLG1 SUCLA2
3	Citrate cycle (TCA cycle) ³⁷ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.17	SUCLG1 SUCLA2
4	Propanoate metabolism ³⁷	10.49	SUCLG1 SUCLA2
5	Valproic Acid Pathway, Pharmacodynamics ⁶¹ Show member pathways aspartate biosynthesis ¹	9.95	SUCLG1 SUCLA2

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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

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Sources for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form

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⁶⁸ SNOMED-CT

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⁷⁰ TGDB

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia