FADS2
MCID: FTL070
MIFTS: 38

Fetal Akinesia Deformation Sequence 2 (FADS2)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Fetal Akinesia Deformation Sequence 2

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 2:

Name: Fetal Akinesia Deformation Sequence 2 57 73 28 5
Fads2 57 11 73
Fetal Akinesia Deformation Sequence Syndrome 2 11
Akinesia, Fetal, Deformation Sequence, Type 2 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



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) (Updated 08-Dec-2022)

MalaCards based summary: Fetal Akinesia Deformation Sequence 2, also known as fads2, is related to fetal akinesia deformation sequence 1 and diabetes mellitus. An important gene associated with Fetal Akinesia Deformation Sequence 2 is RAPSN (Receptor Associated Protein Of The Synapse). Affiliated tissues include lung, liver and prefrontal cortex, and related phenotypes are high palate and hypotonia

UniProtKB/Swiss-Prot: 73 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.

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

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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 1 11.2
2 diabetes mellitus 11.1
3 fetal akinesia deformation sequence 4 11.0
4 hyperlipoproteinemia, type v 10.9
5 dermatitis 10.2
6 non-alcoholic fatty liver disease 10.2
7 dermatitis, atopic 10.1
8 arteries, anomalies of 10.0
9 type 2 diabetes mellitus 10.0
10 body mass index quantitative trait locus 11 10.0
11 body mass index quantitative trait locus 9 10.0
12 body mass index quantitative trait locus 8 10.0
13 dermatitis, atopic, 2 10.0
14 body mass index quantitative trait locus 4 10.0
15 body mass index quantitative trait locus 10 10.0
16 body mass index quantitative trait locus 7 10.0
17 body mass index quantitative trait locus 12 10.0
18 body mass index quantitative trait locus 14 10.0
19 body mass index quantitative trait locus 18 10.0
20 hyperlipoproteinemia, type iii 10.0
21 body mass index quantitative trait locus 19 10.0
22 body mass index quantitative trait locus 20 10.0
23 lipoprotein quantitative trait locus 10.0
24 nutritional deficiency disease 10.0
25 fatty liver disease 10.0
26 abdominal obesity-metabolic syndrome 1 10.0
27 allergic rhinitis 10.0
28 hepatitis 10.0
29 lipid metabolism disorder 10.0
30 rhinitis 10.0
31 chronic rhinitis 10.0
32 crohn's disease 10.0
33 oto-palatal-digital syndrome 10.0
34 adult syndrome 9.8
35 alzheimer disease, familial, 1 9.8
36 atherosclerosis susceptibility 9.8
37 colorectal cancer 9.8
38 multiple sclerosis 9.8
39 glioma susceptibility 1 9.8
40 ige responsiveness, atopic 9.8
41 ovarian cancer 9.8
42 polycystic ovary syndrome 1 9.8
43 tuberous sclerosis 1 9.8
44 autism 9.8
45 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
46 stroke, ischemic 9.8
47 hyperhomocysteinemia 9.8
48 ovarian cancer 1 9.8
49 major depressive disorder 9.8
50 hepatitis c virus 9.8

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

Human phenotypes related to Fetal Akinesia Deformation Sequence 2:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 30 Very rare (1%) HP:0000218
2 hypotonia 30 Very rare (1%) HP:0001252
3 respiratory insufficiency 30 Very rare (1%) HP:0002093
4 hypertelorism 30 Very rare (1%) HP:0000316
5 wide nasal bridge 30 Very rare (1%) HP:0000431
6 flexion contracture 30 Very rare (1%) HP:0001371
7 feeding difficulties in infancy 30 Very rare (1%) HP:0008872
8 cleft palate 30 Very rare (1%) HP:0000175
9 cryptorchidism 30 Very rare (1%) HP:0000028
10 micrognathia 30 Very rare (1%) HP:0000347
11 low-set ears 30 Very rare (1%) HP:0000369
12 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
13 decreased fetal movement 30 Very rare (1%) HP:0001558
14 tented upper lip vermilion 30 Very rare (1%) HP:0010804
15 weak cry 30 Very rare (1%) HP:0001612
16 broad neck 30 HP:0000475
17 fetal akinesia sequence 30 HP:0001989

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia

Head And Neck Nose:
wide nasal bridge
short nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Voice:
weak cry

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 Eyes:
hypertelorism
downslanting palpebral fissures

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

Head And Neck Face:
micrognathia
short philtrum
flat facial profile

Prenatal Manifestations:
fetal akinesia sequence
hydrops fetalis (mild)

Respiratory:
respiratory distress

Chest External Features:
small thorax

Respiratory Lung:
hypoplastic lungs

Skeletal Hands:
flexed fingers
wrist hyperextension

Chest Diaphragm:
thin diaphragm

Clinical features from OMIM®:

618388 (Updated 08-Dec-2022)

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

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 28 RAPSN

Anatomical Context for Fetal Akinesia Deformation Sequence 2

Organs/tissues related to Fetal Akinesia Deformation Sequence 2:

MalaCards : Lung, Liver, Prefrontal Cortex, Brain, Breast, Testis, Adipocyte

Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

(show top 50) (show all 647)
# Title Authors PMID Year
1
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 57 5
18252226 2008
2
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 57 5
18179903 2008
3
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 57
19261599 2009
4
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 5
14504330 2003
5
Multi-omics responses in tree swallow (Tachycineta bicolor) nestlings from the Maumee Area of Concern, Maumee River, Ohio. 62
36183771 2023
6
FADS cluster variants are associated with insulin sensitivity in children and adolescents with overweight and obesity. 62
35906330 2022
7
Thallium(I and III) exposure leads to liver damage and disorders of fatty acid metabolism in mice. 62
35817190 2022
8
Interaction among dietary n-3 and n-6 polyunsaturated fatty acid intake, fatty acid desaturase 2 genetic variants, and low-density lipoprotein cholesterol levels in type 2 diabetes patients. 62
36412559 2022
9
Exploring potential shared genetic influences between rheumatoid arthritis and blood lipid levels. 62
36455308 2022
10
Mendelian Randomization Indicates a Causal Role for Omega-3 Fatty Acids in Inflammatory Bowel Disease. 62
36430859 2022
11
Whole-transcriptome RNA sequencing reveals the global molecular responses and circRNA/lncRNA-miRNA-mRNA ceRNA regulatory network in chicken fat deposition. 62
36116349 2022
12
Lipidomic profiling of the hepatic esterified fatty acid composition in diet-induced nonalcoholic fatty liver disease in genetically diverse Collaborative Cross mice. 62
35858665 2022
13
GPR120-ERK1-Srebp1c signaling pathway regulates long-chain polyunsaturated fatty acids biosynthesis in marine teleost Siganus canaliculatus. 62
36414184 2022
14
Inhibition of IκB Kinase Is a Potential Therapeutic Strategy to Circumvent Resistance to Epidermal Growth Factor Receptor Inhibition in Triple-Negative Breast Cancer Cells. 62
36358633 2022
15
Transcription profiling of feline mammary carcinomas and derived cell lines reveals biomarkers and drug targets associated with metabolic and cell cycle pathways. 62
36220861 2022
16
Tracing Bai-Yue Ancestry in Aboriginal Li People on Hainan Island. 62
36173765 2022
17
The association between dietary glycemic index and cardio-metabolic risk factors in obese individuals. 62
36253802 2022
18
Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population. 62
36193932 2022
19
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population. 62
36131251 2022
20
Genes regulating levels of ω-3 long-chain polyunsaturated fatty acids are associated with alcohol use disorder and consumption, and broader externalizing behavior in humans. 62
35904282 2022
21
Title: Involvement of unsaturated fatty acid biosynthesis in CRC progression based on in vitro and in silico studies. 62
35779418 2022
22
Omega-6 highly unsaturated fatty acids in Leydig cells facilitate male sex hormone production. 62
36131086 2022
23
JMJD1C-regulated lipid synthesis contributes to the maintenance of MLL-rearranged acute myeloid leukemia. 62
35468015 2022
24
Inhibition of cannabinoid receptor type 1 sensitizes triple-negative breast cancer cells to ferroptosis via regulating fatty acid metabolism. 62
36130940 2022
25
Association of placental fatty acid desaturase 2 (FADS2) methylation with maternal fatty acid levels in women with preeclampsia. 62
35872376 2022
26
Tandem mass tag-based proteomics analysis reveals the effects of Guri Gumu-13 pill on drug-induced liver injury. 62
35809368 2022
27
A ferroptosis-related gene signature for overall survival prediction and immune infiltration in lung squamous cell carcinoma. 62
35866375 2022
28
A complete inventory of long-chain polyunsaturated fatty acid biosynthesis pathway enzymes in the miniaturized cyprinid Paedocypris micromegethes. 62
35643977 2022
29
Metabolic and molecular evidence for long-chain PUFA biosynthesis capacity in the grass carp Ctenopharyngodon idella. 62
35580802 2022
30
Maternal DHA-rich n-3 PUFAs supplementation interacts with FADS genotypes to influence the profiles of PUFAs in the colostrum among Chinese Han population: a birth cohort study. 62
35871074 2022
31
FADS1 and FADS2 as biomarkers of Zn status - a systematic review and meta-analysis. 62
35880429 2022
32
Interaction analysis of FADS2 gene variants with chronic hepatitis B infection in Chinese patients. 62
35489698 2022
33
The g.4290 C>G Polymorphism in the FADS2 Gene Modifies the Fatty Acid Profile of the Pectoralis Superficialis Muscle of Ross 308 Broiler Chickens. 62
35892532 2022
34
A Novel Strategy for the Production of Edible Insects: Effect of Dietary Perilla Seed Supplementation on Nutritional Composition, Growth Performance, Lipid Metabolism, and Δ6 Desaturase Gene Expression of Sago Palm Weevil (Rhynchophorus ferrugineus) Larvae. 62
35885278 2022
35
Convergent copy number increase of genes associated with freshwater colonization in fishes. 62
35634928 2022
36
Fatty acid desaturase 2 affects the milk-production traits in Chinese Holsteins. 62
35292995 2022
37
Insulin activates LC-PUFA biosynthesis of hepatocytes by regulating the PI3K/Akt/mTOR/Srebp1 pathway in teleost Siganus canaliculatus. 62
35321854 2022
38
Genetic Factors Associated with Response to Vitamin E Treatment in NAFLD. 62
35883775 2022
39
Interplay between fatty acid desaturase2 (FADS2) rs174583 genetic variant and dietary antioxidant capacity: cardio-metabolic risk factors in obese individuals. 62
35773659 2022
40
Effects of different breeds/strains on fatty acid composition and lipid metabolism-related genes expression in breast muscle of ducks. 62
35358925 2022
41
Elevation of fatty acid desaturase 2 in esophageal adenocarcinoma increases polyunsaturated lipids and may exacerbate bile acid-induced DNA damage. 62
35560527 2022
42
Branched-Chain Fatty Acids Alter the Expression of Genes Responsible for Lipid Synthesis and Inflammation in Human Adipose Cells. 62
35684110 2022
43
Altered Cerebral Curvature in Preterm Infants Is Associated with the Common Genetic Variation Related to Autism Spectrum Disorder and Lipid Metabolism. 62
35683524 2022
44
FADS2-dependent fatty acid desaturation dictates cellular sensitivity to ferroptosis and permissiveness for hepatitis C virus replication. 62
34520742 2022
45
Transcriptome Profile Reveals Genetic and Metabolic Mechanisms Related to Essential Fatty Acid Content of Intramuscular Longissimus thoracis in Nellore Cattle. 62
35629975 2022
46
Regulation of Δ6Fads2 Gene Involved in LC-PUFA Biosynthesis Subjected to Fatty Acid in Large Yellow Croaker (Larimichthys crocea) and Rainbow Trout (Oncorhynchus mykiss). 62
35625587 2022
47
Metabolomic Associations of Asthma in the Hispanic Community Health Study/Study of Latinos. 62
35448546 2022
48
Partial fads2 Gene Knockout Diverts LC-PUFA Biosynthesis via an Alternative Δ8 Pathway with an Impact on the Reproduction of Female Zebrafish (Danio rerio). 62
35456508 2022
49
Lower polyunsaturated fatty acid levels and FADS2 expression in adult compared to neonatal keratinocytes are associated with FADS2 promotor hypermethylation. 62
35219001 2022
50
FADS1 and FADS2 Gene Polymorphisms Modulate the Relationship of Omega-3 and Omega-6 Fatty Acid Plasma Concentrations in Gestational Weight Gain: A NISAMI Cohort Study. 62
35268031 2022

Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAPSN NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser) SNV Pathogenic
8058 rs121909256 GRCh37: 11:47469479-47469479
GRCh38: 11:47447927-47447927
2 RAPSN NM_005055.5(RAPSN):c.566C>T (p.Ala189Val) SNV Pathogenic
8059 rs121909257 GRCh37: 11:47464332-47464332
GRCh38: 11:47442780-47442780
3 RAPSN NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) DEL Pathogenic
545747 rs1555142142 GRCh37: 11:47459587-47459588
GRCh38: 11:47438036-47438037
4 RAPSN NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile) SNV Uncertain Significance
1727211 GRCh37: 11:47460404-47460404
GRCh38: 11:47438853-47438853
5 RAPSN NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) SNV Uncertain Significance
259623 rs149683345 GRCh37: 11:47460408-47460408
GRCh38: 11:47438857-47438857
6 RAPSN NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) SNV Benign
130091 rs7111873 GRCh37: 11:47469439-47469439
GRCh38: 11:47447887-47447887
7 RAPSN NM_005055.5(RAPSN):c.691-11del DEL Benign
197249 rs34729771 GRCh37: 11:47463484-47463484
GRCh38: 11:47441932-47441932
8 RAPSN NM_005055.5(RAPSN):c.*57C>T SNV Benign
304968 rs45617144 GRCh37: 11:47459469-47459469
GRCh38: 11:47437918-47437918
9 RAPSN NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) SNV Benign
130089 rs7126210 GRCh37: 11:47460306-47460306
GRCh38: 11:47438755-47438755
10 RAPSN NM_005055.5(RAPSN):c.855G>A (p.Gln285=) SNV Benign
130092 rs45603036 GRCh37: 11:47463220-47463220
GRCh38: 11:47441668-47441668
11 RAPSN NM_005055.5(RAPSN):c.193-15C>T SNV Benign
259627 rs45547231 GRCh37: 11:47469717-47469717
GRCh38: 11:47448165-47448165
12 RAPSN NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) SNV Benign
130090 rs34312154 GRCh37: 11:47470345-47470345
GRCh38: 11:47448793-47448793
13 RAPSN NG_008312.1(RAPSN):g.5005A>G SNV Not Provided
8051 rs786200905 GRCh37: 11:47470726-47470726
GRCh38: 11:47449174-47449174

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

73
# 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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