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 57 74 29 6
Fads2 57 74


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MedGen 42 CN258279

Summaries for Fetal Akinesia Deformation Sequence 2

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. (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). The drugs Olive and Parenteral Nutrition Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and brain.

UniProtKB/Swiss-Prot : 74 Fetal akinesia deformation sequence 2: 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. FADS2 inheritance is autosomal recessive.

Related Diseases for Fetal Akinesia Deformation Sequence 2

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:


Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 2

Drugs for Fetal Akinesia Deformation Sequence 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Olive Phase 4
2 Parenteral Nutrition Solutions Phase 4
3 Pharmaceutical Solutions Phase 4
4 Fat Emulsions, Intravenous Phase 4
5 Soy Bean Phase 4
6 Soybean oil, phospholipid emulsion Phase 4
7 Liver Extracts Phase 4
8 Phytosterol Phase 4
9 Linoleate
10 Sunflower
11 Flax
12 Omega 3 Fatty Acid
13 Nutrients

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Controlled, Clinical Trial to Evaluate the Risk of Developing Essential Fatty Acid Deficiency in Pediatric Patients, Including Neonates, Receiving Either Clinolipid (Lipid Injectable Emulsion, USP) 20% or Standard-of-Care Soybean Oil-Based Lipid Emulsion Terminated NCT02476994 Phase 4 Clinolipid;Intralipid
2 The Role of Fillagrin Gene Mutations and FADS Genes Variation Through Its Effect on the Concentration of Polyunsaturated Fatty Acids Towards the Occurance of Atopic Dermatitis in Indonesian Infants Completed NCT02401178
3 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Completed NCT03572205
4 Canola and Flax Oils in Modulation of Vascular Function and Biomarkers of Cardiovascular Disease Risk Completed NCT01351012
5 The Effect of Alpha Linolenic Acid (ALA) Supplementation on Essential Fatty Acids Profile During Pregnancy Compared to Common Supplements and the Epigenetic Effect on the Newborn Recruiting NCT03040856
6 The Influence of FADS2 rs 174575 on Breastmilk Fatty Acid Levels and the Recognition Memory Abilities of 6-month Old Breastfed Infants and Follow-up Active, not recruiting NCT01942434

Search NIH Clinical Center for Fetal Akinesia Deformation Sequence 2

Genetic Tests for Fetal Akinesia Deformation Sequence 2

Genetic tests related to Fetal Akinesia Deformation Sequence 2:

# Genetic test Affiliating Genes
1 Fetal Akinesia Deformation Sequence 2 29 RAPSN

Anatomical Context for Fetal Akinesia Deformation Sequence 2

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

Liver, Lung, Brain, Breast, Heart, Cortex, Prefrontal Cortex

Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

(show top 50) (show all 411)
# Title Authors PMID Year
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 8 71
18252226 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 8 71
18179903 2008
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 8
19261599 2009
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 71
14504330 2003
Effects of algae supplementation in high-energy dietary on fatty acid composition and the expression of genes involved in lipid metabolism in Hu sheep managed under intensive finishing system. 38
31276903 2019
Dietary fish oil and flaxseed for rabbit does: fatty acids distribution and Δ6-desaturase enzyme expression of different tissues. 38
30774049 2019
Influence of iron-deficient diets during gestation and lactation on cerebral fatty acids and eicosanoids in guinea pig offspring-Comparison of studies with different sources of dietary lipids. 38
31422159 2019
The TRPV1 channel regulates glucose metabolism. 38
31408376 2019
Deficiency or activation of peroxisome proliferator-activated receptor α reduces the tissue concentrations of endogenously synthesized docosahexaenoic acid in C57BL/6J mice. 38
31388404 2019
MicroRNAs Involved in the Regulation of LC-PUFA Biosynthesis in Teleosts: miR-33 Enhances LC-PUFA Biosynthesis in Siganus canaliculatus by Targeting insig1 which in Turn Upregulates srebp1. 38
31020472 2019
FADS1 genotype is distinguished by human subcutaneous adipose tissue fatty acids, but not inflammatory gene expression. 38
30082751 2019
Novel CB1-ligands maintain homeostasis of the endocannabinoid system in ω3- and ω6-long-chain-PUFA deficiency. 38
31167809 2019
Functional diversification of teleost Fads2 fatty acyl desaturases occurs independently of the trophic level. 38
31371768 2019
FADS1 and FADS2 Polymorphisms Modulate Fatty Acid Metabolism and Dietary Impact on Health. 38
31433740 2019
Temperature affects liver and muscle metabolism in photostimulated migratory redheaded buntings (Emberiza bruniceps). 38
31410562 2019
Delta-6-desaturase (FADS2) inhibition and omega-3 fatty acids in skeletal muscle protein turnover. 38
30923750 2019
Fatty acid desaturase 2 is up-regulated by the treatment with statin through geranylgeranyl pyrophosphate-dependent Rho kinase pathway in HepG2 cells. 38
31292513 2019
Long-chain PUFA profiles in parental diets induce long-term effects on growth, fatty acid profiles, expression of fatty acid desaturase 2 and selected immune system-related genes in the offspring of gilthead seabream. 38
31266551 2019
FadR1, a pathway-specific activator of fidaxomicin biosynthesis in Actinoplanes deccanensis Yp-1. 38
31327020 2019
Contribution of a genetic risk score to clinical prediction of hepatic steatosis in obese children and adolescents. 38
31255630 2019
Serelaxin (recombinant human relaxin-2) treatment affects the endogenous synthesis of long chain poly-unsaturated fatty acids and induces substantial alterations of lipidome and metabolome profiles in rat cardiac tissue. 38
30954631 2019
Fatty Acid Elongase 7 (ELOVL7) Plays a Role in the Synthesis of Long-Chain Unsaturated Fatty Acids in Goat Mammary Epithelial Cells. 38
31242694 2019
Tropical Vegetable Oils Do Not Alter Growth Performance in African Catfish through a High n-6 Polyunsaturated Fatty Acids Biosynthesis Capacity. 38
31006877 2019
Molecular cloning and functional characterization of elongase (elovl5) and fatty acyl desaturase (fads2) in sciaenid, Nibea diacanthus (Lacepède, 1802). 38
30742892 2019
Maternal dietary calcium status during pregnancy and lactation affects brain DHA accretion through modifying DNA methylation of fatty acid desaturases in the mouse offspring. 38
30954344 2019
Reduced delta-6 desaturase activity partially protects against high-fat diet-induced impairment in whole-body glucose tolerance. 38
30928647 2019
A key metabolic gene for recurrent freshwater colonization and radiation in fishes. 38
31147520 2019
Uncovering Plasticity in Tumor Lipid Metabolism. 38
30814093 2019
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
Comprehensive transcriptome analysis based on RNA sequencing identifies critical genes for lipopolysaccharide-induced epididymitis in a rat model. 38
31044753 2019
Fatty acid levels alterations in THP-1 macrophages cultured with lead (Pb). 38
30732887 2019
Sodium Orthovanadate Changes Fatty Acid Composition and Increased Expression of Stearoyl-Coenzyme A Desaturase in THP-1 Macrophages. 38
30927246 2019
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. 38
29779171 2019
Correction to: Liver DNA methylation of FADS2 associates with FADS2 genotype. 38
30867039 2019
Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis. 38
30541029 2019
Pparγ Is Involved in the Transcriptional Regulation of Liver LC-PUFA Biosynthesis by Targeting the Δ6Δ5 Fatty Acyl Desaturase Gene in the Marine Teleost Siganus canaliculatus. 38
30206714 2019
Dietary pattern regulates fatty acid desaturase 1 gene expression in Indian pregnant women to spare overall long chain polyunsaturated fatty acids levels. 38
30511301 2019
Double bonds of unsaturated fatty acids differentially regulate mitochondrial cardiolipin remodeling. 38
30764880 2019
The mechanism through which dietary supplementation with heated linseed grain increases n-3 long-chain polyunsaturated fatty acid concentration in subcutaneous adipose tissue of cashmere kids. 38
30312437 2019
Tissue-Specific Orchestration of Gilthead Sea Bream Resilience to Hypoxia and High Stocking Density. 38
31354511 2019
A complete enzymatic capacity for long-chain polyunsaturated fatty acid biosynthesis is present in the Amazonian teleost tambaqui, Colossoma macropomum. 38
30290221 2019
Long-chain polyunsaturated fatty acid biosynthesis and its response to cadmium exposure in silver pomfret. 38
30453168 2019
A novel polymorphism in the fatty acid desaturase 2 gene (Fads2): A possible role in the basal metabolic rate. 38
30818386 2019
Dietary EPA and DHA prevent changes in white adipose tissue omega-3 PUFA and oxylipin content associated with a Fads2 deficiency. 38
30368227 2019
Liver DNA methylation of FADS2 associates with FADS2 genotype. 38
30654845 2019
FADS1 and the Timing of Human Adaptation to Agriculture. 38
30272210 2018
Alpha-Linolenic Acid: It Contribute Regulation of Fertilization Capacity and Subsequent Development by Promoting of Cumulus Expansion during Maturation. 38
30680329 2018
Polyunsaturated fatty acid elongation and desaturation in activated human T-cells: ELOVL5 is the key elongase. 38
30293059 2018
Genes and Dietary Fatty Acids in Regulation of Fatty Acid Composition of Plasma and Erythrocyte Membranes. 38
30453550 2018
Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity. 38
30453627 2018

Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

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

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence 2:

# Symbol AA change Variation ID SNP ID
1 RAPSN p.Phe139Ser VAR_043899 rs121909256
2 RAPSN p.Ala189Val VAR_043902 rs121909257

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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