MCID: FTL032
MIFTS: 22

Fatal Infantile Lactic Acidosis malady

Genetic diseases, Rare diseases categories

Summaries for Fatal Infantile Lactic Acidosis

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34MalaCards
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MalaCards: Fatal Infantile Lactic Acidosis is related to lactic acidosis and mitochondrial complex i deficiency. An important gene associated with Fatal Infantile Lactic Acidosis is SUCLG1 (succinate-CoA ligase, alpha subunit), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. The compounds IDP and inosine triphosphate have been mentioned in the context of this disorder.

Aliases & Classifications for Fatal Infantile Lactic Acidosis

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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

fatal infantile lactic acidosis 21


Related Diseases for Fatal Infantile Lactic Acidosis

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18GeneCards, 19GeneDecks
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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
1lactic acidosis31.0NDUFS4, MT-ND1
2mitochondrial complex i deficiency30.6NDUFS4
3myopathy10.3
4mitochondrial dna depletion syndrome 910.3
5leber hereditary optic neuropathy10.1MT-ND1
6leigh disease10.0NDUFS4
7parkinson's disease10.0NDUFS4, MT-ND1

Graphical network of diseases related to Fatal Infantile Lactic Acidosis:



Diseases related to fatal infantile lactic acidosis

Symptoms for Fatal Infantile Lactic Acidosis

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Drugs & Therapeutics for Fatal Infantile Lactic Acidosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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21GeneTests
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Genetic tests related to Fatal Infantile Lactic Acidosis:

id Genetic test Affiliating Genes
1 Fatal Infantile Lactic Acidosis21 SUCLG1

Anatomical Context for Fatal Infantile Lactic Acidosis

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Animal Models for Fatal Infantile Lactic Acidosis or affiliated genes

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Publications for Fatal Infantile Lactic Acidosis

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53PubMed
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Articles related to Fatal Infantile Lactic Acidosis:

idTitleAuthorsYear
1
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. (21093335)
2011
2
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. (17668387)
2007
3
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. (16492986)
2006
4
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
5
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

Variations for Fatal Infantile Lactic Acidosis

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Expression for genes affiliated with Fatal Infantile Lactic Acidosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fatal Infantile Lactic Acidosis

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Pathways for genes affiliated with Fatal Infantile Lactic Acidosis

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Fatal Infantile Lactic Acidosis

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25HMDB, 46Novoseek, 12DrugBank, 30IUPHAR
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Compounds related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1IDP259.7NME4, SUCLG1
2inosine triphosphate46 2510.7NME4, SUCLG1
3Guanosine diphosphate259.3NME4, SUCLG1
4rotenone469.3NDUFS4, MT-ND1
5Sulfide259.3MT-ND1, NDUFS4
6QH2259.2NDUFS4, MT-ND1
7Ubiquinone Q2259.2NDUFS4, MT-ND1
8Ubiquinone Q1259.2MT-ND1, NDUFS4
9FAD259.1NDUFS4, MT-ND1
10pyruvate469.0MT-ND1, NDUFS4
11nadh46 25 1211.0NDUFS4, MT-ND1
12nad30 259.7NDUFS4, MT-ND1
13atp46 309.6NDUFS4, NME4, MT-ND1

GO Terms for genes affiliated with Fatal Infantile Lactic Acidosis

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17Gene Ontology
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Cellular components related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

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

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

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

Products for genes affiliated with Fatal Infantile Lactic Acidosis

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Sources for Fatal Infantile Lactic Acidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet