MCID: FTL032
MIFTS: 14

Fatal Infantile Lactic Acidosis malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Fatal Infantile Lactic Acidosis

Aliases & Descriptions for Fatal Infantile Lactic Acidosis:

Name: Fatal Infantile Lactic Acidosis 24
Lactic Acidosis, Fatal Infantile 69

Classifications:



Summaries for Fatal Infantile Lactic Acidosis

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

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:

id Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 9 11.3
2 lactic acidosis 10.3
3 mitochondrial complex i deficiency 9.9
4 myopathy 9.9
5 encephalopathy 9.9
6 mast cell neoplasm 9.8 MT-ND1 SUCLG1
7 fgg-related congenital afibrinogenemia 9.5 MT-ND1 NME4 SUCLG1

Graphical network of the top 20 diseases related to Fatal Infantile Lactic Acidosis:



Diseases related to Fatal Infantile Lactic Acidosis

Symptoms & Phenotypes for Fatal Infantile Lactic Acidosis

Drugs & Therapeutics for Fatal Infantile Lactic Acidosis

Search Clinical Trials , NIH Clinical Center for Fatal Infantile Lactic Acidosis

Genetic Tests for Fatal Infantile Lactic Acidosis

Genetic tests related to Fatal Infantile Lactic Acidosis:

id Genetic test Affiliating Genes
1 Fatal Infantile Lactic Acidosis 24 SUCLG1

Anatomical Context for Fatal Infantile Lactic Acidosis

Publications for Fatal Infantile Lactic Acidosis

Articles related to Fatal Infantile Lactic Acidosis:

id Title Authors Year
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

Expression for Fatal Infantile Lactic Acidosis

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

Pathways for Fatal Infantile Lactic Acidosis

GO Terms for Fatal Infantile Lactic Acidosis

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.16 NME4 SUCLG1
2 mitochondrion GO:0005739 9.13 MT-ND1 NME4 SUCLG1
3 mitochondrial inner membrane GO:0005743 8.8 MT-ND1 NME4 SUCLG1

Sources for Fatal Infantile Lactic Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....