FADS3
MCID: FTL071
MIFTS: 16

Fetal Akinesia Deformation Sequence 3 (FADS3)

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

Aliases & Classifications for Fetal Akinesia Deformation Sequence 3

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 3:

Name: Fetal Akinesia Deformation Sequence 3 58 6
Fads3 58

Classifications:



External Ids:

OMIM 58 618389

Summaries for Fetal Akinesia Deformation Sequence 3

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. (618389)

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

Related Diseases for Fetal Akinesia Deformation Sequence 3

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 hyperlipidemia, familial combined 10.1
2 fetal akinesia deformation sequence 2 10.1

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 3

Clinical features from OMIM:

618389

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 3

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

Genetic Tests for Fetal Akinesia Deformation Sequence 3

Anatomical Context for Fetal Akinesia Deformation Sequence 3

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

42
Lung, Brain, Liver

Publications for Fetal Akinesia Deformation Sequence 3

Articles related to Fetal Akinesia Deformation Sequence 3:

(show all 13)
# Title Authors Year
1
Genetic polymorphisms of FADS1, FADS2, and FADS3 and fatty acid profiles in subjects received methadone maintenance therapy. ( 28161285 )
2018
2
Synthesis of the suspected trans-11,cis-13 conjugated linoleic acid isomer in ruminant mammary tissue by FADS3-catalyzed Δ13-desaturation of vaccenic acid. ( 27865506 )
2017
3
Fads3 modulates docosahexaenoic acid in liver and brain. ( 28838557 )
2017
4
Alternative splicing generates novel Fads3 transcript in mice. ( 27216536 )
2016
5
The 51 kDa FADS3 is secreted in the ECM of hepatocytes and blood in rat. ( 23966218 )
2014
6
Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts. ( 22398025 )
2013
7
Trans-vaccenate is Δ13-desaturated by FADS3 in rodents. ( 24070791 )
2013
8
Fatty Acid Desaturase 3 (Fads3) is a singular member of the Fads cluster. ( 20226833 )
2011
9
The fatty acid desaturase 3 gene encodes for different FADS3 protein isoforms in mammalian tissues. ( 19752397 )
2010
10
A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. ( 19750004 )
2009
11
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
12
Novel fatty acid desaturase 3 (FADS3) transcripts generated by alternative splicing. ( 19573581 )
2009
13
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. ( 18626973 )
2008

Variations for Fetal Akinesia Deformation Sequence 3

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 NM_173660.4(DOK7): c.331+1G> T single nucleotide variant Pathogenic rs1349476281 GRCh37 Chromosome 4, 3475364: 3475364
2 DOK7 NM_173660.4(DOK7): c.331+1G> T single nucleotide variant Pathogenic rs1349476281 GRCh38 Chromosome 4, 3473637: 3473637

Expression for Fetal Akinesia Deformation Sequence 3

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

Pathways for Fetal Akinesia Deformation Sequence 3

GO Terms for Fetal Akinesia Deformation Sequence 3

Sources for Fetal Akinesia Deformation Sequence 3

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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74 UMLS
75 UMLS via Orphanet
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