Aliases & Classifications for Fars2 Deficiency

MalaCards integrated aliases for Fars2 Deficiency:

Name: Fars2 Deficiency 25

Summaries for Fars2 Deficiency

MalaCards based summary : Fars2 Deficiency is related to paraplegia and combined oxidative phosphorylation deficiency 14. An important gene associated with Fars2 Deficiency is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include liver.

Wikipedia : 73 Phenylalanyl-tRNA synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2... more...

GeneReviews: NBK538658

Related Diseases for Fars2 Deficiency

Diseases related to Fars2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 paraplegia 10.2
2 combined oxidative phosphorylation deficiency 14 10.1
3 mitochondrial metabolism disease 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.0
5 spastic paraplegia 77, autosomal recessive 10.0
6 scoliosis 10.0
7 status epilepticus 10.0
8 lactic acidosis 10.0
9 liver disease 10.0
10 encephalopathy 10.0
11 spasticity 10.0

Graphical network of the top 20 diseases related to Fars2 Deficiency:



Diseases related to Fars2 Deficiency

Symptoms & Phenotypes for Fars2 Deficiency

Drugs & Therapeutics for Fars2 Deficiency

Search Clinical Trials , NIH Clinical Center for Fars2 Deficiency

Genetic Tests for Fars2 Deficiency

Anatomical Context for Fars2 Deficiency

MalaCards organs/tissues related to Fars2 Deficiency:

40
Liver

Publications for Fars2 Deficiency

Articles related to Fars2 Deficiency:

(show all 18)
# Title Authors PMID Year
1
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. 61 25
30177229 2018
2
New insights into the phenotype of FARS2 deficiency. 25 61
29126765 2017
3
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. 25
30250868 2018
4
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. 25
28419689 2017
5
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. 25
28043061 2017
6
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. 25
27549011 2016
7
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 25
27652284 2016
8
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 25
27095821 2016
9
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 25
26553276 2016
10
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 25
25851414 2015
11
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. 25
24161539 2014
12
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 25
22833457 2012
13
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 25
22499341 2012
14
The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. 25
18611382 2008
15
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure. 25
10959815 2000
16
Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase. 25
10329163 1999
17
FARS2 Deficiency 61
30869852 2019
18
Phenotypic spectrum of FARS2-deficiency. 61
29326872 2018

Variations for Fars2 Deficiency

Expression for Fars2 Deficiency

Search GEO for disease gene expression data for Fars2 Deficiency.

Pathways for Fars2 Deficiency

GO Terms for Fars2 Deficiency

Sources for Fars2 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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