MCID: FTL032
MIFTS: 14

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 24
 
Lactic Acidosis, Fatal Infantile 68

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).

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 911.3
2lactic acidosis10.3
3mitochondrial complex i deficiency9.9
4myopathy9.9
5encephalopathy9.9
6mast cell neoplasm9.8MT-ND1, SUCLG1
7fgg-related congenital afibrinogenemia9.5MT-ND1, NME4, SUCLG1

Graphical network of diseases related to Fatal Infantile Lactic Acidosis:



Diseases related to fatal infantile lactic acidosis

Symptoms & Phenotypes 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 Acidosis24 SUCLG1

Anatomical Context for Fatal Infantile Lactic Acidosis

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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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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:000575910.1NME4, SUCLG1
2mitochondrial inner membraneGO:00057439.2MT-ND1, NME4, SUCLG1
3mitochondrionGO:00057398.5MT-ND1, NME4, SUCLG1

Sources for Fatal Infantile Lactic Acidosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet