MCID: FTL032
MIFTS: 24

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 based summary: Fatal Infantile Lactic Acidosis, also known as lactic acidosis, fatal infantile, 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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Fatal Infantile Lactic Acidosis, Aliases & Descriptions:

Name: Fatal Infantile Lactic Acidosis 20
 
Lactic Acidosis, Fatal Infantile 62


Classifications:

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


Related Diseases for Fatal Infantile Lactic Acidosis

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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 acidosis31.1NDUFS4, MT-ND1
2mitochondrial complex i deficiency30.8NDUFS4
3myopathy10.3
4mitochondrial dna depletion syndrome 910.3
5leber hereditary optic neuropathy10.2MT-ND1
6leigh disease10.1NDUFS4
7parkinson's disease10.0MT-ND1, NDUFS4

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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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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Articles related to Fatal Infantile Lactic Acidosis:

idTitleAuthorsYear
1
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. (25293719)
2014
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

Variations for Fatal Infantile Lactic Acidosis

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Expression for genes affiliated with Fatal Infantile Lactic Acidosis

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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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Compounds for genes affiliated with Fatal Infantile Lactic Acidosis

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Fatal Infantile Lactic Acidosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1IDP249.7NME4, SUCLG1
2inosine triphosphate44 2410.7NME4, SUCLG1
3Guanosine diphosphate249.3NME4, SUCLG1
4rotenone449.3NDUFS4, MT-ND1
5Sulfide249.3MT-ND1, NDUFS4
6QH2249.2NDUFS4, MT-ND1
7Ubiquinone Q2249.2NDUFS4, MT-ND1
8Ubiquinone Q1249.2MT-ND1, NDUFS4
9FAD249.1NDUFS4, MT-ND1
10pyruvate449.0MT-ND1, NDUFS4
11nadh44 24 1111.0NDUFS4, MT-ND1
12nad28 249.7NDUFS4, MT-ND1
13atp44 289.6NDUFS4, NME4, MT-ND1

GO Terms for genes affiliated with Fatal Infantile Lactic Acidosis

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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Fatal Infantile Lactic Acidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet