MCID: FTL032
MIFTS: 22

Fatal Infantile Lactic Acidosis malady

Genetic diseases, Rare diseases categories
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Summaries for Fatal Infantile Lactic Acidosis

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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 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
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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fatal Infantile Lactic Acidosis

Search NIH Clinical Center for Fatal Infantile Lactic Acidosis

Genetic Tests for Fatal Infantile Lactic Acidosis

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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

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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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52PubMed
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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, 15Gene 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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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Fatal Infantile Lactic Acidosis

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24HMDB, 45Novoseek, 11DrugBank, 29IUPHAR
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Compounds related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1IDP249.7NME4, SUCLG1
2inosine triphosphate45 2410.7NME4, SUCLG1
3Guanosine diphosphate249.3NME4, SUCLG1
4rotenone459.3NDUFS4, MT-ND1
5Sulfide249.3MT-ND1, NDUFS4
6QH2249.2NDUFS4, MT-ND1
7Ubiquinone Q2249.2NDUFS4, MT-ND1
8Ubiquinone Q1249.2MT-ND1, NDUFS4
9FAD249.1NDUFS4, MT-ND1
10pyruvate459.0MT-ND1, NDUFS4
11nadh45 24 1111.0NDUFS4, MT-ND1
12nad29 249.7NDUFS4, MT-ND1
13atp45 299.6NDUFS4, NME4, MT-ND1

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:0057398.6NDUFS4, 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet