MCID: SCL054
MIFTS: 11

Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Aliases & Classifications for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards integrated aliases for Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

Name: Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 24
Sucla2 Deficiency 24

Summaries for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards based summary : Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, also known as sucla2 deficiency, is related to mitochondrial dna depletion syndrome 5 and gastroesophageal reflux. An important gene associated with Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria is SUCLA2 (Succinate-CoA Ligase ADP-Forming Beta Subunit). Affiliated tissues include skeletal muscle.

Wikipedia : 75 Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), also known as ADP-forming... more...

GeneReviews: NBK6803

Related Diseases for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Diseases related to Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 5 12.3
2 gastroesophageal reflux 10.6
3 kearns-sayre syndrome 10.6
4 west syndrome 10.6
5 scoliosis 10.6
6 ptosis 10.6
7 mitochondrial dna depletion syndrome 10.6
8 sensorineural hearing loss 10.6
9 methylmalonic acidemia 10.6
10 dystonia 10.6
11 muscular atrophy 10.6
12 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.6
13 cerebral atrophy 10.6
14 hypotonia 10.6
15 mitochondrial dna depletion syndrome, encephalomyopathic form 10.6
16 leigh syndrome 10.0
17 tricarboxylic acid cycle, defect of 10.0
18 branchiootic syndrome 1 10.0
19 agammaglobulinemia 10.0
20 lactic acidosis 10.0
21 myopathy 10.0

Graphical network of the top 20 diseases related to Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:



Diseases related to Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Symptoms & Phenotypes for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Drugs & Therapeutics for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Search Clinical Trials , NIH Clinical Center for Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

Genetic Tests for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Anatomical Context for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

MalaCards organs/tissues related to Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

41
Skeletal Muscle

Publications for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Articles related to Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria:

(show all 15)
# Title Authors PMID Year
1
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 4
26475597 2016
2
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. 4
24986829 2015
3
A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. 4
24659738 2015
4
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 4
23759946 2013
5
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 4
23385875 2013
6
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 4
23010432 2012
7
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. 4
22980518 2012
8
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. 4
19666145 2009
9
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 4
17301081 2007
10
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 4
17287286 2007
11
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 4
15877282 2005
12
Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. 4
11831846 2002
13
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 38
27913098 2017
14
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature). 38
26409464 2016
15
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
20301762 2009

Variations for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Expression for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Search GEO for disease gene expression data for Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.

Pathways for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

GO Terms for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

Sources for Sucla2-Related Mitochondrial Dna Depletion Syndrome,...

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