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 56 73 29 6
Fads2 56 12 73
Fetal Akinesia Deformation Sequence Syndrome 2 12



autosomal recessive


External Ids:

Disease Ontology 12 DOID:0111378
OMIM 56 618388
OMIM Phenotypic Series 56 PS208150
MedGen 41 CN258279

Summaries for Fetal Akinesia Deformation Sequence 2

OMIM : 56 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 fetal akinesia deformation sequence 4 and attention deficit-hyperactivity disorder. An important gene associated with Fetal Akinesia Deformation Sequence 2 is RAPSN (Receptor Associated Protein Of The Synapse). The drugs Olive and Fat Emulsions, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and brain.

Disease Ontology : 12 A fetal akinesia deformation sequence that has material basis in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2.

UniProtKB/Swiss-Prot : 73 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

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth
thin lips

Head And Neck Face:
short philtrum
flat facial profile

Prenatal Manifestations:
fetal akinesia sequence
hydrops fetalis (mild)

respiratory distress

Skeletal Limbs:
joint contractures
abnormally flexed elbows

Abdomen Gastrointestinal:
feeding problems

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Neck:
short, broad neck

Skeletal Feet:
hyperextended toes

Head And Neck Nose:
wide nasal bridge
short nose

Genitourinary Internal Genitalia Male:

Head And Neck Ears:
low-set ears

weak cry

Neurologic Central Nervous System:

Chest External Features:
small thorax

Respiratory Lung:
hypoplastic lungs

Skeletal Hands:
flexed fingers
wrist hyperextension

Chest Diaphragm:
thin diaphragm

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 Fat Emulsions, Intravenous Phase 4
3 Soybean oil, phospholipid emulsion Phase 4
4 Soy Bean Phase 4
5 Parenteral Nutrition Solutions Phase 4
6 Pharmaceutical Solutions Phase 4
7 Phytosterol Phase 4
8 Liver Extracts Phase 4
9 Nutrients
10 Linoleate
11 Sunflower
12 Flax
13 Omega 3 Fatty Acid

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 Influence of FADS2 rs 174575 on Breastmilk Fatty Acid Levels and the Recognition Memory Abilities of 6-month Old Breastfed Infants and Follow-up Completed NCT01942434
3 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
4 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Completed NCT03572205
5 Canola and Flax Oils in Modulation of Vascular Function and Biomarkers of Cardiovascular Disease Risk Completed NCT01351012
6 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 Not yet recruiting NCT03040856

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

Anatomical Context for Fetal Akinesia Deformation Sequence 2

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

Liver, Lung, Brain, Breast, Heart, Cortex, Adipocyte

Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

(show top 50) (show all 479)
# Title Authors PMID Year
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 56 6
18252226 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 56 6
18179903 2008
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 56
19261599 2009
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 6
14504330 2003
PCTR1 ameliorates lipopolysaccharide-induced acute inflammation and multiple organ damage via regulation of linoleic acid metabolism by promoting FADS1/FASDS2/ELOV2 expression and reducing PLA2 expression. 61
32123295 2020
Limited Evidence for Selection at the FADS Locus in Native American Populations. 61
32145021 2020
Fatty acid induced lipolysis influences embryo development, gene expression and lipid droplet formation in the porcine cumulus cells†. 61
32318713 2020
Whole Blood DNA Methylation Signatures of Diet Are Associated with Cardiovascular Disease Risk Factors and All-cause Mortality. 61
32525743 2020
Region-specific changes in the mRNA and protein expression of LCPUFA biosynthesis enzymes and transporters in the placentae of women with preeclampsia. 61
32452400 2020
FADS1 (Fatty Acid Desaturase 1) Genotype Associates With Aortic Valve FADS mRNA Expression, Fatty Acid Content and Calcification. 61
32397743 2020
Transcription factor pparαb activates fads2s to promote LC-PUFA biosynthesis in the golden pompano Trachinotus ovatus (Linnaeus 1758). 61
32535207 2020
Expression of enzymes involved in polyunsaturated fatty acid synthesis in the stallion testis and epididymis. 61
32527375 2020
Huang-Qi San improves glucose and lipid metabolism and exerts protective effects against hepatic steatosis in high fat diet-fed rats. 61
32114355 2020
Transcriptional regulation mechanism of SREBP on Δ6 Fad in razor clam Sinonovacula constricta. 61
32517818 2020
Comparative and functional analysis of desaturase FADS1 (∆5) and FADS2 (∆6) orthologues of marine organisms. 61
32554222 2020
Dietary ω3-and ω6-Polyunsaturated fatty acids reconstitute fertility of Juvenile and adult Fads2-Deficient mice. 61
32272092 2020
Discovery of a potent SCAP degrader that ameliorates HFD-induced obesity, hyperlipidemia and insulin resistance via an autophagy-independent lysosomal pathway. 61
32432943 2020
Disturbance of Fatty Acid Desaturation Mediated by FADS2 in Mesenteric Adipocytes Contributes to Chronic Inflammation of Crohn's Disease. 61
32365195 2020
Risk SNP-Mediated Enhancer-Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2. 61
32127356 2020
Expression of SCD and FADS2 Is Lower in the Necrotic Core and Growing Tumor Area than in the Peritumoral Area of Glioblastoma Multiforme. 61
32392704 2020
Stearoyl-CoA desaturase (scd1a) is epigenetically regulated by broodstock nutrition in gilthead sea bream (Sparus aurata). 61
31790638 2020
The miR-15/16 Cluster Is Involved in the Regulation of Vertebrate LC-PUFA Biosynthesis by Targeting pparγ as Demonostrated in Rabbitfish Siganus canaliculatus. 61
32418070 2020
Maternal Long-Chain Polyunsaturated Fatty Acid Status, Methylmercury Exposure, and Birth Outcomes in a High-Fish-Eating Mother-Child Cohort. 61
32433731 2020
High-throughput transcriptome and pathogenesis analysis of clinical psoriasis. 61
32381429 2020
Effects of dietary incorporation of linseed oil with soybean isoflavone on fatty acid profiles and lipid metabolism-related gene expression in breast muscle of chickens. 61
32423522 2020
Fatty acid desaturation in red blood cell membranes of patients with type 2 diabetes is improved by zinc supplementation. 61
32534376 2020
CRISPR/Cas9 Based Knockout of miR-145 Affects Intracellular Fatty Acid Metabolism by Targeting INSIG1 in Goat Mammary Epithelial Cells. 61
32299216 2020
Genes controlling polyunsaturated fatty acid synthesis are developmentally regulated in broiler chicks. 61
32316746 2020
Polymorphisms in Fatty Acid Desaturase 2 Gene are Associated with Milk Production Traits in Chinese Holstein Cows. 61
32290630 2020
Functional characterisation of fatty acyl desaturase, Fads2, and elongase, Elovl5, in the Boddart's goggle-eyed goby Boleophthalmus boddarti (Gobiidae) suggests an incapacity for long-chain polyunsaturated fatty acid biosynthesis. 61
32222967 2020
Fatty acid desaturase 2 (FADS2) but not FADS1 desaturates branched chain and odd chain saturated fatty acids. 61
31751799 2020
Multi-omics Data Integration for Identifying Osteoporosis Biomarkers and Their Biological Interaction and Causal Mechanisms. 61
32058959 2020
A trans-ethnic two-stage polygenetic scoring analysis detects genetic correlation between osteoporosis and schizophrenia. 61
32107650 2020
Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. 61
32031713 2020
Integrated metabolomic and transcriptomic analyses identify critical genes in eicosapentaenoic acid biosynthesis and metabolism in the sea urchin Strongylocentrotus intermedius. 61
32015446 2020
Differential Regulation of circRNA, miRNA, and piRNA during Early Osteogenic and Chondrogenic Differentiation of Human Mesenchymal Stromal Cells. 61
32050423 2020
Molecular and functional characterisation of a putative elovl4 gene and its expression in response to dietary fatty acid profile in Atlantic bluefin tuna (Thunnus thynnus). 61
31669375 2020
Comparative Transcriptome Analysis Provides Insights into the Polyunsaturated Fatty Acid Synthesis Regulation of Fat-1 Transgenic Sheep. 61
32046209 2020
A comparative metabolomics study on anadromous clupeid Tenualosa ilisha for better understanding the influence of habitat on nutritional composition. 61
32100135 2020
Improvement on metabolic syndrome in high fat diet-induced obese mice through modulation of gut microbiota by sangguayin decoction. 61
31509781 2020
Sodium Orthovanadate Changes Fatty Acid Composition and Increased Expression of Stearoyl-Coenzyme A Desaturase in THP-1 Macrophages. 61
30927246 2020
Ximenynic Acid Regulation of n-3 PUFA Content in Liver and Brain. 61
32036361 2020
High rumen degradable starch decreased goat milk fat via trans-10, cis-12 conjugated linoleic acid-mediated downregulation of lipogenesis genes, particularly, INSIG1. 61
32280461 2020
The NASA Twins Study: The Effect of One Year in Space on Long-Chain Fatty Acid Desaturases and Elongases. 61
32375154 2020
Phenome-wide association studies on cardiovascular health and fatty acids considering phenotype quality control practices for epidemiological data. 61
31797636 2020
Assessment of Fatty Acid Desaturase (Fads2) Structure-Function Properties in Fish in the Context of Environmental Adaptations and as a Target for Genetic Engineering. 61
32023831 2020
Genome-Wide Association Study for Serum Omega-3 and Omega-6 Polyunsaturated Fatty Acids: Exploratory Analysis of the Sex-Specific Effects and Dietary Modulation in Mediterranean Subjects with Metabolic Syndrome. 61
31991592 2020
Effects of Dietary Lipid Composition and Fatty Acid Desaturase 2 Expression in Broodstock Gilthead Sea Bream on Lipid Metabolism-Related Genes and Methylation of the fads2 Gene Promoter in Their Offspring. 61
31835772 2019
A Functional 3' UTR Polymorphism of FADS2 Affects Cow Milk Composition through Modifying Mir-744 Binding. 61
31817629 2019
FADS1 and FADS2 polymorphism are associated with changes in fatty acid concentrations after calorie-restricted Central European and Mediterranean diets. 61
31567872 2019

Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAPSN RAPSN, 2-BP DEL, 1177AAdeletion Pathogenic 8057
2 RAPSN NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser)SNV Pathogenic 8058 rs121909256 11:47469479-47469479 11:47447927-47447927
3 RAPSN NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)SNV Pathogenic 8059 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
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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