MCID: FTL032
MIFTS: 17

Fatal Infantile Lactic Acidosis malady

Genetic diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Fatal Infantile Lactic Acidosis

About this section

Aliases & Descriptions for Fatal Infantile Lactic Acidosis:

Name: Fatal Infantile Lactic Acidosis 22
 
Lactic Acidosis, Fatal Infantile 65


Classifications:



Summaries for Fatal Infantile Lactic Acidosis

About this section
MalaCards based summary: Fatal Infantile Lactic Acidosis, also known as lactic acidosis, fatal infantile, is related to lactic acidosis and fatal infantile lactic acidosis with methylmalonic aciduria. An important gene associated with Fatal Infantile Lactic Acidosis is SUCLG1 (Succinate-CoA Ligase, Alpha Subunit), and among its related pathways is Carbon metabolism.

Related Diseases for Fatal Infantile Lactic Acidosis

About this section

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
1lactic acidosis10.7
2fatal infantile lactic acidosis with methylmalonic aciduria10.6
3mitochondrial complex i deficiency10.4
4mitochondrial dna depletion syndrome 910.4
5myopathy10.4
6encephalopathy10.4
7isolated cytochrome c oxidase deficiency10.4
8lagophthalmos9.8MT-ND1, SUCLG1
9fatty acid oxidation disorders9.4MT-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

About this section

Drugs & Therapeutics for Fatal Infantile Lactic Acidosis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fatal Infantile Lactic Acidosis

Genetic Tests for Fatal Infantile Lactic Acidosis

About this section

Genetic tests related to Fatal Infantile Lactic Acidosis:

id Genetic test Affiliating Genes
1 Fatal Infantile Lactic Acidosis22 SUCLG1

Anatomical Context for Fatal Infantile Lactic Acidosis

About this section

Animal Models for Fatal Infantile Lactic Acidosis or affiliated genes

About this section

Publications for Fatal Infantile Lactic Acidosis

About this section

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

About this section

Expression for genes affiliated with Fatal Infantile Lactic Acidosis

About this section
Search GEO for disease gene expression data for Fatal Infantile Lactic Acidosis.

Pathways for genes affiliated with Fatal Infantile Lactic Acidosis

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3NME4, SUCLG1

GO Terms for genes affiliated with Fatal Infantile Lactic Acidosis

About this section

Cellular components related to Fatal Infantile Lactic Acidosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.3NME4, SUCLG1
2mitochondrial inner membraneGO:00057438.6MT-ND1, NME4, SUCLG1
3mitochondrionGO:00057398.2MT-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:00091429.9NME4, SUCLG1
2cellular metabolic processGO:00442379.3MT-ND1, SUCLG1
3small molecule metabolic processGO:00442818.5MT-ND1, NME4, SUCLG1

Sources for Fatal Infantile Lactic Acidosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet