MCID: FTL032
MIFTS: 16

Fatal Infantile Lactic Acidosis malady

Summaries for Fatal Infantile Lactic Acidosis

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33MalaCards
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MalaCards: Fatal Infantile Lactic Acidosis is related to mitochondrial complex i deficiency and mitochondrial dna depletion syndrome 9. An important gene associated with Fatal Infantile Lactic Acidosis is SUCLG1 (succinate-CoA ligase, alpha subunit), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds inosine triphosphate and rotenone have been mentioned in the context of this disorder.

Aliases & Classifications for Fatal Infantile Lactic Acidosis

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20GeneTests
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Aliases & Descriptions:

fatal infantile lactic acidosis 20


Related Diseases for Fatal Infantile Lactic Acidosis

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17GeneCards, 18GeneDecks
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Diseases in the Fatal Infantile Lactic Acidosis family:

lactic acidosis congenital infantile

Diseases related to Fatal Infantile Lactic Acidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex i deficiency30.7NDUFS4
2mitochondrial dna depletion syndrome 910.3
3mitochondrial dna-associated leigh syndrome and narp10.0MT-ND1
4leber hereditary optic neuropathy10.0MT-ND1
5mitochondrial disorders10.0MT-ND1
6lactic acidosis10.0NDUFS4, MT-ND1
7parkinson's disease10.0NDUFS4, MT-ND1

Graphical network of diseases related to Fatal Infantile Lactic Acidosis:



Diseases related to fatal infantile lactic acidosis

Clinical Features for Fatal Infantile Lactic Acidosis

Drugs & Therapeutics for Fatal Infantile Lactic Acidosis

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fatal Infantile Lactic Acidosis

Drug clinical trials:

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Search NIH Clinical Center for Fatal Infantile Lactic Acidosis

Search CenterWatch for Fatal Infantile Lactic Acidosis

Genetic Tests for Fatal Infantile Lactic Acidosis

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20GeneTests
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Genetic tests related to Fatal Infantile Lactic Acidosis:

id Genetic test Affiliating Genes
1 Fatal Infantile Lactic Acidosis20 SUCLG1

Anatomical Context for Fatal Infantile Lactic Acidosis

Animal Models for Fatal Infantile Lactic Acidosis or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Fatal Infantile Lactic Acidosis

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51PubMed
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Articles related to Fatal Infantile Lactic Acidosis:

idTitleAuthorsYear
1
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. (23878101)
2013
2
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. (21093335)
2011
3
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. (17668387)
2007
4
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. (16492986)
2006
5
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
6
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. (3110216)
1987

Genetic Variations for Fatal Infantile Lactic Acidosis

Expression for genes affiliated with Fatal Infantile Lactic Acidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fatal Infantile Lactic Acidosis

Search GEO for disease gene expression data for Fatal Infantile Lactic Acidosis.

Pathways for genes affiliated with Fatal Infantile Lactic Acidosis

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54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Fatal Infantile Lactic Acidosis

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45Novoseek, 24HMDB, 29IUPHAR
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Compounds related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1inosine triphosphate45 2410.5SUCLG1, NME4
2rotenone459.0MT-ND1, NDUFS4
3nad29 2410.0MT-ND1, NDUFS4
4pyruvate458.7MT-ND1, NDUFS4
5atp45 299.4NDUFS4, MT-ND1, NME4

GO Terms for genes affiliated with Fatal Infantile Lactic Acidosis

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16Gene Ontology
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Cellular components related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.6SUCLG1, NME4, NDUFS4
2mitochondrial inner membraneGO:0057438.3SUCLG1, NME4, NDUFS4

Biological processes related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:0442378.8SUCLG1, NDUFS4
2small molecule metabolic processGO:0442818.6SUCLG1, NME4, NDUFS4

Products for genes affiliated with Fatal Infantile Lactic Acidosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fatal Infantile Lactic Acidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet