MCID: SCC007
MIFTS: 16

Succinate-Coa Ligase Deficiency

Aliases & Classifications for Succinate-Coa Ligase Deficiency

MalaCards integrated aliases for Succinate-Coa Ligase Deficiency:

Name: Succinate-Coa Ligase Deficiency 25 73
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria 25
Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria 25
Succinate-Coenzyme a Ligase Deficiency 25

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UMLS 73 C3711369

Summaries for Succinate-Coa Ligase Deficiency

Genetics Home Reference : 25 Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently.

MalaCards based summary : Succinate-Coa Ligase Deficiency, also known as mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria, is related to methylmalonic aciduria, cblb type and mitochondrial encephalomyopathy. An important gene associated with Succinate-Coa Ligase Deficiency is SUCLG1 (Succinate-CoA Ligase Alpha Subunit), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include brain.

Related Diseases for Succinate-Coa Ligase Deficiency

Diseases related to Succinate-Coa Ligase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria, cblb type 9.2 SUCLA2 SUCLG1
2 mitochondrial encephalomyopathy 9.0 SUCLA2 SUCLG1

Symptoms & Phenotypes for Succinate-Coa Ligase Deficiency

Drugs & Therapeutics for Succinate-Coa Ligase Deficiency

Search Clinical Trials , NIH Clinical Center for Succinate-Coa Ligase Deficiency

Genetic Tests for Succinate-Coa Ligase Deficiency

Anatomical Context for Succinate-Coa Ligase Deficiency

MalaCards organs/tissues related to Succinate-Coa Ligase Deficiency:

41
Brain

Publications for Succinate-Coa Ligase Deficiency

Articles related to Succinate-Coa Ligase Deficiency:

# Title Authors Year
1
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. ( 26475597 )
2015
2
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. ( 26028457 )
2015

Variations for Succinate-Coa Ligase Deficiency

Expression for Succinate-Coa Ligase Deficiency

Search GEO for disease gene expression data for Succinate-Coa Ligase Deficiency.

Pathways for Succinate-Coa Ligase Deficiency

GO Terms for Succinate-Coa Ligase Deficiency

Cellular components related to Succinate-Coa Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 SUCLA2 SUCLG1

Biological processes related to Succinate-Coa Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.26 SUCLA2 SUCLG1
2 tricarboxylic acid cycle GO:0006099 9.16 SUCLA2 SUCLG1
3 succinate metabolic process GO:0006105 8.96 SUCLA2 SUCLG1
4 succinyl-CoA metabolic process GO:0006104 8.62 SUCLA2 SUCLG1

Molecular functions related to Succinate-Coa Ligase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.16 SUCLA2 SUCLG1
2 ligase activity GO:0016874 8.96 SUCLA2 SUCLG1
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLA2 SUCLG1

Sources for Succinate-Coa Ligase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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