FADS2
MCID: FTL070
MIFTS: 21

Fetal Akinesia Deformation Sequence 2 (FADS2)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence 2

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 2:

Name: Fetal Akinesia Deformation Sequence 2 58 6
Fads2 58

Classifications:



External Ids:

OMIM 58 618388

Summaries for Fetal Akinesia Deformation Sequence 2

OMIM : 58 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. (618388)

MalaCards based summary : Fetal Akinesia Deformation Sequence 2, also known as fads2, is related to fanconi anemia, complementation group d2 and best vitelliform macular dystrophy. An important gene associated with Fetal Akinesia Deformation Sequence 2 is RAPSN (Receptor Associated Protein Of The Synapse). Affiliated tissues include lung, liver and cortex.

Related Diseases for Fetal Akinesia Deformation Sequence 2

Diseases in the Fetal Akinesia Deformation Sequence 1 family:

Fetal Akinesia Deformation Sequence 2 Fetal Akinesia Deformation Sequence 3
Fetal Akinesia Deformation Sequence 4

Diseases related to Fetal Akinesia Deformation Sequence 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d2 11.3
2 best vitelliform macular dystrophy 11.3
3 fanconi anemia, complementation group a 11.1
4 dermatitis 10.2
5 arteries, anomalies of 10.0
6 diabetes mellitus, noninsulin-dependent 10.0
7 multiple sclerosis 10.0
8 fish-eye disease 10.0
9 homocysteinemia 10.0
10 fetal akinesia deformation sequence 3 10.0
11 bipolar disorder 10.0
12 coronary artery anomaly 10.0
13 fatty liver disease 10.0

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 2:



Diseases related to Fetal Akinesia Deformation Sequence 2

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 2

Clinical features from OMIM:

618388

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 2

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence 2

Genetic Tests for Fetal Akinesia Deformation Sequence 2

Anatomical Context for Fetal Akinesia Deformation Sequence 2

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence 2:

42
Lung, Liver, Cortex, Breast, Brain, Prefrontal Cortex, Skeletal Muscle

Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

(show top 50) (show all 104)
# Title Authors Year
1
Molecular cloning and functional characterization of elongase (elovl5) and fatty acyl desaturase (fads2) in sciaenid, Nibea diacanthus (Lacepède, 1802). ( 30742892 )
2019
2
A novel polymorphism in the fatty acid desaturase 2 gene (Fads2): A possible role in the basal metabolic rate. ( 30818386 )
2019
3
Correction to: Liver DNA methylation of FADS2 associates with FADS2 genotype. ( 30867039 )
2019
4
Delta-6-desaturase (FADS2) inhibition and omega-3 fatty acids in skeletal muscle protein turnover. ( 30923750 )
2019
5
Dietary EPA and DHA prevent changes in white adipose tissue omega-3 PUFA and oxylipin content associated with a Fads2 deficiency. ( 30368227 )
2019
6
Liver DNA methylation of FADS2 associates with FADS2 genotype. ( 30654845 )
2019
7
Carrying minor allele of FADS1 and haplotype of FADS1 and FADS2 increased the risk of metabolic syndrome and moderate but not low fat diets lowered the risk in two Korean cohorts. ( 29779171 )
2019
8
FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children. ( 30180836 )
2018
9
The effect of FADS2 gene rs174583 polymorphism on desaturase activities, fatty acid profile, insulin resistance, biochemical indices, and incidence of type 2 diabetes. ( 29937909 )
2018
10
Genetic polymorphisms of FADS1, FADS2, and FADS3 and fatty acid profiles in subjects received methadone maintenance therapy. ( 28161285 )
2018
11
FADS2 inhibition in essential fatty acid deficiency induces hepatic lipid accumulation via impairment of very low-density lipoprotein (VLDL) secretion. ( 29353041 )
2018
12
Transcriptional activation of zebrafish fads2 promoter and its transient transgene expression in yolk syncytial layer of zebrafish embryos. ( 29497119 )
2018
13
DHA upregulates FADS2 expression in primary cortical astrocytes exposed to vitamin A. ( 29750879 )
2018
14
FADS1-FADS2 genetic polymorphisms are associated with fatty acid metabolism through changes in DNA methylation and gene expression. ( 30157936 )
2018
15
Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis. ( 30541029 )
2018
16
A novel FADS2 isoform identified in human milk fat globule suppresses FADS2 mediated Δ6-desaturation of omega-3 fatty acids. ( 30041907 )
2018
17
Characteristics of the fads2 gene promoter in marine teleost Epinephelus coioides and role of Sp1-binding site in determining promoter activity. ( 29593294 )
2018
18
Tissue-specific impact of FADS cluster variants on FADS1 and FADS2 gene expression. ( 29590160 )
2018
19
Polyunsaturated Fatty Acid Biosynthesis Involving Δ8 Desaturation and Differential DNA Methylation of FADS2 Regulates Proliferation of Human Peripheral Blood Mononuclear Cells. ( 29556240 )
2018
20
Neither linoleic acid nor arachidonic acid promote white adipose tissue inflammation in Fads2-/- mice fed low fat diets. ( 29031400 )
2017
21
Molecular and functional characterization of a fads2 orthologue in the Amazonian teleost, Arapaima gigas. ( 27693628 )
2017
22
Dietary essential α-linolenic acid and linoleic acid differentially modulate TNFα-induced NFκB activity in FADS2-deficient HEK-293 cells. ( 27960561 )
2017
23
Regulation of FADS2 transcription by SREBP-1 and PPAR-α influences LC-PUFA biosynthesis in fish. ( 28067297 )
2017
24
Interorgan cross talk between fatty acid metabolism, tissue inflammation, and FADS2 genotype in humans with obesity. ( 28145068 )
2017
25
Exploration of the perceived and actual benefits of omega-3 fatty acids and the impact of FADS1 and FADS2 genetic information on dietary intake and blood levels of EPA and DHA. ( 28186827 )
2017
26
Identification and characterization of single nucleotide polymorphism markers in FADS2 gene associated with olive oil fatty acids composition. ( 28701171 )
2017
27
Atorvastatin increases Fads1, Fads2 and Elovl5 gene expression via the geranylgeranyl pyrophosphate-dependent Rho kinase pathway in 3T3-L1 cells. ( 28765914 )
2017
28
Cloning and functional characterization of fads2 desaturase and elovl5 elongase from Japanese flounder Paralichthys olivaceus. ( 28943298 )
2017
29
FADS1-FADS2 gene cluster confers risk to polycystic ovary syndrome. ( 26879377 )
2016
30
Cloning and functional characterization of Δ6 fatty acid desaturase (FADS2) in Eurasian perch (Perca fluviatilis). ( 26478265 )
2016
31
Lack of association of SNPs from the FADS1-FADS2 gene cluster with major depression or suicidal behavior. ( 26513616 )
2016
32
Palmitic acid (16:0) competes with omega-6 linoleic and omega-3 ɑ-linolenic acids for FADS2 mediated Δ6-desaturation. ( 26597785 )
2016
33
FADS2 genotype regulates delta-6 desaturase activity and inflammation in human adipose tissue. ( 26609056 )
2016
34
Fatty acid composition of chicken breast meat is dependent on genotype-related variation of FADS1 and FADS2 gene expression and desaturating activity. ( 26670346 )
2016
35
Echium oil increased the expression of a Δ4 Fads2 fatty acyl desaturase and the deposition of n-3 long-chain polyunsaturated fatty acid in comparison with linseed oil in striped snakehead (Channa striata) muscle. ( 26842427 )
2016
36
Isolation and Functional Characterisation of a fads2 in Rainbow Trout (Oncorhynchus mykiss) with Δ5 Desaturase Activity. ( 26943160 )
2016
37
Polymorphisms in FADS1 and FADS2 alter plasma fatty acids and desaturase levels in type 2 diabetic patients with coronary artery disease. ( 27004414 )
2016
38
FADS2 genotype influences whole-body resting fat oxidation in young adult men. ( 27144909 )
2016
39
Dietary Oil Source and Selenium Supplementation Modulate Fads2 and Elovl5 Transcriptional Levels in Liver and Brain of Meagre (Argyrosomus regius). ( 27169705 )
2016
40
Positive Selection on a Regulatory Insertion-Deletion Polymorphism in FADS2 Influences Apparent Endogenous Synthesis of Arachidonic Acid. ( 27188529 )
2016
41
Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: protocol for a collaborative meta-analysis. ( 27311901 )
2016
42
A fatty acyl desaturase (fads2) with dual Δ6 and Δ5 activities from the freshwater carnivorous striped snakehead Channa striata. ( 27421235 )
2016
43
Correction: Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: protocol for a collaborative meta-analysis. ( 27489150 )
2016
44
Compensatory induction of Fads1 gene expression in heterozygous Fads2-null mice and by diet with a high n-6/n-3 PUFA ratio. ( 27613800 )
2016
45
The capacity for long-chain polyunsaturated fatty acid synthesis in a carnivorous vertebrate: Functional characterisation and nutritional regulation of a Fads2 fatty acyl desaturase with Δ4 activity and an Elovl5 elongase in striped snakehead (Channa striata). ( 25542509 )
2015
46
Influence of the cis-9, cis-12 and cis-15 double bond position in octadecenoic acid (18:1) isomers on the rat FADS2-catalyzed Δ6-desaturation. ( 25701799 )
2015
47
Polyunsaturated fatty acid regulation of adipocyte FADS1 and FADS2 expression and function. ( 25755223 )
2015
48
Botanical oils enriched in n-6 and n-3 FADS2 products are equally effective in preventing atherosclerosis and fatty liver. ( 25921305 )
2015
49
Polymorphisms of rs174616 in the FADS1-FADS2 gene cluster is associated with a reduced risk of type 2 diabetes mellitus in northern Han Chinese people. ( 25981324 )
2015
50
The fatty acid desaturase 2 (FADS2) gene product catalyzes Δ4 desaturation to yield n-3 docosahexaenoic acid and n-6 docosapentaenoic acid in human cells. ( 26065859 )
2015

Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAPSN RAPSN, 2-BP DEL, 1177AA deletion Pathogenic
2 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh37 Chromosome 11, 47469479: 47469479
3 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh38 Chromosome 11, 47447927: 47447927
4 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh37 Chromosome 11, 47464332: 47464332
5 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh38 Chromosome 11, 47442780: 47442780

Expression for Fetal Akinesia Deformation Sequence 2

Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence 2.

Pathways for Fetal Akinesia Deformation Sequence 2

GO Terms for Fetal Akinesia Deformation Sequence 2

Sources for Fetal Akinesia Deformation Sequence 2

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