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FADS3
MCID: FTL071
MIFTS: 23

Fetal Akinesia Deformation Sequence 3 (FADS3)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Fetal Akinesia Deformation Sequence 3

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MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 3:

Name: Fetal Akinesia Deformation Sequence 3 57 74 29 6
Fads3 57 74

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)


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MedGen 42 CN258277
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Summaries for Fetal Akinesia Deformation Sequence 3

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OMIM : 57 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. (618389)

MalaCards based summary : Fetal Akinesia Deformation Sequence 3, also known as fads3, is related to fetal akinesia deformation sequence 2 and hyperlipidemia, familial combined, 3. An important gene associated with Fetal Akinesia Deformation Sequence 3 is DOK7 (Docking Protein 7). Affiliated tissues include lung, liver and brain.

UniProtKB/Swiss-Prot : 74 Fetal akinesia deformation sequence 3: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive.

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Related Diseases for Fetal Akinesia Deformation Sequence 3

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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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 2 10.6
2 hyperlipidemia, familial combined, 3 10.2
3 neuroblastoma 1 10.2
4 lipid metabolism disorder 10.2
5 heroin dependence 10.2

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 3:



Diseases related to Fetal Akinesia Deformation Sequence 3
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Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 3

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Clinical features from OMIM:

618389
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Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 3

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Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence 3

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Genetic Tests for Fetal Akinesia Deformation Sequence 3

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Genetic tests related to Fetal Akinesia Deformation Sequence 3:

# Genetic test Affiliating Genes
1 Fetal Akinesia Deformation Sequence 3 29 DOK7
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Anatomical Context for Fetal Akinesia Deformation Sequence 3

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence 3:

41
Lung, Liver, Brain, Heart, Bone, Bone Marrow, Breast
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Publications for Fetal Akinesia Deformation Sequence 3

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Articles related to Fetal Akinesia Deformation Sequence 3:

(show all 45)
# Title Authors PMID Year
1
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 8 71
19261599 2009
2
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 71
18626973 2008
3
The combined effects of FADS gene variation and dietary fats in obesity-related traits in a population from the far north of Sweden: the GLACIER Study. 38
29795460 2019
4
Effect of diets supplemented with starch and corn oil, marine algae, or hydrogenated palm oil on mammary lipogenic gene expression in cows and goats: A comparative study. 38
30343921 2019
5
Decidual expression and regulation of fatty acid desaturase 3 during mouse decidualization. 38
30400035 2018
6
Conversion of dietary trans-vaccenic acid to trans11,cis13-conjugated linoleic acid in the rat lactating mammary gland by Fatty Acid Desaturase 3-catalyzed methyl-end Δ13-desaturation. 38
30262139 2018
7
Genetic polymorphisms of FADS1, FADS2, and FADS3 and fatty acid profiles in subjects received methadone maintenance therapy. 38
28161285 2018
8
Long-chain polyunsaturated fatty acids, gestation duration, and birth size: a Mendelian randomization study using fatty acid desaturase variants. 38
29878044 2018
9
The distribution of three candidate cold-resistant SNPs in six minorities in North China. 38
29433421 2018
10
Fads3 modulates docosahexaenoic acid in liver and brain. 38
28838557 2017
11
Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI). 38
28259851 2017
12
Association of the FADS gene cluster with coronary artery disease and plasma lipid concentrations in the northern Chinese Han population. 38
28237083 2017
13
Synthesis of the suspected trans-11,cis-13 conjugated linoleic acid isomer in ruminant mammary tissue by FADS3-catalyzed Δ13-desaturation of vaccenic acid. 38
27865506 2017
14
Alternative splicing generates novel Fads3 transcript in mice. 38
27216536 2016
15
Association of polyunsaturated fatty acids in breast milk with fatty acid desaturase gene polymorphisms among Chinese lactating mothers. 38
27269715 2016
16
Genetic Variants of the FADS Gene Cluster Are Associated with Erythrocyte Membrane LC PUFA Levels in Patients with Mild Cognitive Impairment. 38
27273350 2016
17
Genomic structural analysis of porcine fatty acid desaturase cluster on chromosome 2. 38
25409917 2015
18
Fatty acid desaturase 1 gene polymorphisms control human hepatic lipid composition. 38
25123259 2015
19
Effects of FADS and ELOVL polymorphisms on indexes of desaturase and elongase activities: results from a pre-post fish oil supplementation. 38
25367143 2014
20
Genetic variants in desaturase gene, erythrocyte fatty acids, and risk for type 2 diabetes in Chinese Hans. 38
24985009 2014
21
Control of adipose tissue expandability in response to high fat diet by the insulin-like growth factor-binding protein-4. 38
24778188 2014
22
Unsaturated fatty acids, desaturases, and human health. 38
24460221 2014
23
The 51 kDa FADS3 is secreted in the ECM of hepatocytes and blood in rat. 38
23966218 2014
24
Trans-vaccenate is Δ13-desaturated by FADS3 in rodents. 38
24070791 2013
25
Dietary arachidonic acid and docosahexaenoic acid regulate liver fatty acid desaturase (FADS) alternative transcript expression in suckling piglets. 38
24075244 2013
26
Association of polymorphisms in FADS gene with age-related changes in serum phospholipid polyunsaturated fatty acids and oxidative stress markers in middle-aged nonobese men. 38
23818766 2013
27
Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts. 38
22398025 2013
28
The polypyrimidine tract binding protein regulates desaturase alternative splicing and PUFA composition. 38
21980057 2011
29
Fatty acid desaturase (FADS) gene polymorphisms and insulin resistance in association with serum phospholipid polyunsaturated fatty acid composition in healthy Korean men: cross-sectional study. 38
21513558 2011
30
Fatty Acid Desaturase 3 (Fads3) is a singular member of the Fads cluster. 38
20226833 2011
31
Genetic variants of the fatty acid desaturase gene cluster predict amounts of red blood cell docosahexaenoic and other polyunsaturated fatty acids in pregnant women: findings from the Avon Longitudinal Study of Parents and Children. 38
21106917 2011
32
FADS gene polymorphisms in Koreans: association with ω6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease. 38
21040914 2011
33
Separating the contribution of glucocorticoids and wakefulness to the molecular and electrophysiological correlates of sleep homeostasis. 38
20857860 2010
34
Alternative transcripts of fatty acid desaturase (FADS) genes. 38
20236814 2010
35
The fatty acid desaturase 3 gene encodes for different FADS3 protein isoforms in mammalian tissues. 38
19752397 2010
36
Novel fatty acid desaturase 3 (FADS3) transcripts generated by alternative splicing. 38
19573581 2009
37
Genetic determinants of circulating sphingolipid concentrations in European populations. 38
19798445 2009
38
A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. 38
19750004 2009
39
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 38
19060911 2009
40
Common variants at 30 loci contribute to polygenic dyslipidemia. 38
19060906 2009
41
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. 38
19148276 2009
42
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. 38
18320251 2008
43
Gene expression pattern of functional neuronal cells derived from human bone marrow mesenchymal stromal cells. 38
18405367 2008
44
Serial analysis of gene expression in mouse uterus at the implantation site. 38
16434403 2006
45
cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. 38
10860662 2000
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Variations for Fetal Akinesia Deformation Sequence 3

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ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DOK7 NM_173660.5(DOK7): c.331+1G> T single nucleotide variant Pathogenic rs1349476281 4:3475364-3475364 4:3473637-3473637
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Expression for Fetal Akinesia Deformation Sequence 3

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Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence 3.
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Pathways for Fetal Akinesia Deformation Sequence 3

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GO Terms for Fetal Akinesia Deformation Sequence 3

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Sources for Fetal Akinesia Deformation Sequence 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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