MCID: FTL032
MIFTS: 15

Fatal Infantile Lactic Acidosis malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Fatal Infantile Lactic Acidosis

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Aliases & Descriptions for Fatal Infantile Lactic Acidosis:

Name: Fatal Infantile Lactic Acidosis 23
 
Lactic Acidosis, Fatal Infantile 66

Classifications:



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 mitochondrial dna depletion syndrome 9 and lactic acidosis. An important gene associated with Fatal Infantile Lactic Acidosis is SUCLG1 (Succinate-CoA Ligase Alpha Subunit), and among its related pathways is Metabolism.

Related Diseases for Fatal Infantile Lactic Acidosis

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Diseases in the Lactic Acidosis family:

Lactic Acidosis Congenital Infantile fatal infantile lactic acidosis

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

idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna depletion syndrome 911.5
2lactic acidosis10.4
3mitochondrial complex i deficiency10.0
4myopathy10.0
5encephalopathy10.0
6wheat allergy9.4MT-ND1, SUCLG1
7fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form8.6MT-ND1, NME4, SUCLG1

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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Interventional clinical trials:

Search ClinicalTrials, 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 Acidosis23 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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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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Pathways related to Fatal Infantile Lactic Acidosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5MT-ND1, NME4, SUCLG1

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.6NME4, SUCLG1
2mitochondrionGO:00057398.5MT-ND1, NME4, SUCLG1
3mitochondrial inner membraneGO:00057438.4MT-ND1, NME4, SUCLG1

Biological processes related to Fatal Infantile Lactic Acidosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoside triphosphate biosynthetic processGO:00091429.3NME4, SUCLG1

Sources for Fatal Infantile Lactic Acidosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet