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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E88.8

Orphanet ⁵⁸ 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 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.

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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	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:

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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 ⁶¹	El-Hattab AW...Scaglia F	28358460	2017
2	SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria ⁶¹	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	9.28	GeneCards inferred via : Variants (show sections)
2	SUCLA2	Succinate-CoA Ligase ADP-Forming Subunit Beta	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
3	SUCLG1	Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha	Protein Coding	7.5	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 ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.65	SUCLG1 SUCLA2
2	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁵ Show member pathways Citric acid cycle (TCA cycle) ⁶⁵ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁵ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁵ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁵ TCA Cycle ¹	11.37	SUCLG1 SUCLA2
3	Citrate cycle (TCA cycle) ³⁶ 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 ³⁶	10.49	SUCLG1 SUCLA2
5	Valproic Acid Pathway, Pharmacodynamics ⁶⁰ Show member pathways 4-aminobutyrate degradation ¹ aspartate biosynthesis ¹ Degradation of GABA ⁶⁵	10	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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