MCID: SCL055
MIFTS: 11

Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Aliases & Classifications for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards integrated aliases for Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

Name: Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 24 29
Suclg1-Related Succinyl-Coa Ligase Deficiency 24
Suclg1 Deficiency 24

Summaries for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards based summary : Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, also known as suclg1-related succinyl-coa ligase deficiency, is related to mitochondrial dna depletion syndrome 9 and encephalopathy, progressive, early-onset, with episodic rhabdomyolysis. An important gene associated with Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria is SUCLG1 (Succinate-CoA Ligase Alpha Subunit).

GeneReviews: NBK425223

Related Diseases for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Diseases related to Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 9 10.6
2 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.6
3 mitochondrial dna depletion syndrome 10.6
4 methylmalonic acidemia 10.6
5 lactic acidosis 10.6
6 dystonia 10.6
7 hypoglycemia 10.6
8 microcephaly 10.6
9 hypertrophic cardiomyopathy 10.6
10 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.6
11 hypertonia 10.6
12 hypotonia 10.6
13 myoclonus 10.6
14 mitochondrial dna depletion syndrome, encephalomyopathic form 10.6

Graphical network of the top 20 diseases related to Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:



Diseases related to Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Symptoms & Phenotypes for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Drugs & Therapeutics for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Search Clinical Trials , NIH Clinical Center for Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Genetic Tests for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Genetic tests related to Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

# Genetic test Affiliating Genes
1 Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 29

Anatomical Context for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Publications for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Articles related to Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

(show all 18)
# Title Authors PMID Year
1
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. 4
27484306 2016
2
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 4
27233228 2016
3
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 4
26475597 2016
4
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. 4
26827111 2016
5
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. 4
26028457 2016
6
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. 4
24362886 2014
7
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 4
23385875 2013
8
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. 4
22980518 2012
9
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. 4
22231385 2012
10
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. 4
21639866 2011
11
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. 4
21093335 2011
12
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 4
20693550 2010
13
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 4
20453710 2010
14
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. 4
20197121 2010
15
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. 4
20227526 2010
16
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 4
19526370 2010
17
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 4
17668387 2007
18
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
28358460 2017

Variations for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Expression for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Search GEO for disease gene expression data for Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.

Pathways for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

GO Terms for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

Sources for Suclg1-Related Mitochondrial Dna Depletion Syndrome,...

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73 UMLS via Orphanet
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