FADS3
MCID: FTL071
MIFTS: 28

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 56 73 29 6
Fads3 56 12 73
Fetal Akinesia Deformation Sequence Syndrome 3 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero


Classifications:



External Ids:

Disease Ontology 12 DOID:0111376
OMIM 56 618389
OMIM Phenotypic Series 56 PS208150
MedGen 41 CN258277

Summaries for Fetal Akinesia Deformation Sequence 3

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. (618389)

MalaCards based summary : Fetal Akinesia Deformation Sequence 3, also known as fads3, is related to fetal akinesia deformation sequence 1 and fanconi anemia, complementation group d2. An important gene associated with Fetal Akinesia Deformation Sequence 3 is DOK7 (Docking Protein 7). Affiliated tissues include lung, liver and bone marrow.

Disease Ontology : 12 A fetal akinesia deformation sequence that has material basis in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3.

UniProtKB/Swiss-Prot : 73 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.

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 fetal akinesia deformation sequence 1 11.2
2 fanconi anemia, complementation group d2 11.2
3 fetal akinesia deformation sequence 4 11.2
4 angular cheilitis 11.2
5 fetal akinesia deformation sequence 2 10.6
6 hyperlipidemia, familial combined, 3 10.2
7 lipid metabolism disorder 10.2
8 neuroblastoma 10.2
9 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

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 3

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
short nose

Prenatal Manifestations:
hydrops fetalis

Skeletal Feet:
talipes equinovarus
rocker-bottom feet

Head And Neck Eyes:
telecanthus
downslanting palpebral fissures
short palpebral fissures

Skeletal Hands:
camptodactyly
normal palmar creases

Muscle Soft Tissue:
reduced muscle bulk

Head And Neck Neck:
short neck

Head And Neck Face:
micrognathia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
oligohydramnios

Respiratory Lung:
pulmonary hypoplasia
hydrothorax

Skeletal Limbs:
contractures
pterygia

Prenatal Manifestations Movement:
absent fetal movements

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

Genetic tests related to Fetal Akinesia Deformation Sequence 3:

# Genetic test Affiliating Genes
1 Fetal Akinesia Deformation Sequence 3 29

Anatomical Context for Fetal Akinesia Deformation Sequence 3

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

40
Lung, Liver, Bone Marrow, Bone, Brain, Heart, Breast

Publications for Fetal Akinesia Deformation Sequence 3

Articles related to Fetal Akinesia Deformation Sequence 3:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. 56 6
31880392 2020
2
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 56 6
19261599 2009
3
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 6
18626973 2008
4
Dok-7 mutations underlie a neuromuscular junction synaptopathy. 6
16917026 2006
5
Hypothalamic proteome changes in response to nicotine and its withdrawal are potentially associated with alteration in body weight. 61
31911195 2020
6
FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome. 61
31862735 2020
7
Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3. 61
31916624 2020
8
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
9
Early nutrition in combination with polymorphisms in fatty acid desaturase gene cluster modulate fatty acid composition of cheek cells' glycerophospholipids in school-age children. 61
31638497 2019
10
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. 61
29795460 2019
11
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. 61
30343921 2019
12
Decidual expression and regulation of fatty acid desaturase 3 during mouse decidualization. 61
30400035 2018
13
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. 61
30262139 2018
14
Genetic polymorphisms of FADS1, FADS2, and FADS3 and fatty acid profiles in subjects received methadone maintenance therapy. 61
28161285 2018
15
Long-chain polyunsaturated fatty acids, gestation duration, and birth size: a Mendelian randomization study using fatty acid desaturase variants. 61
29878044 2018
16
The distribution of three candidate cold-resistant SNPs in six minorities in North China. 61
29433421 2018
17
Fads3 modulates docosahexaenoic acid in liver and brain. 61
28838557 2017
18
Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI). 61
28259851 2017
19
Association of the FADS gene cluster with coronary artery disease and plasma lipid concentrations in the northern Chinese Han population. 61
28237083 2017
20
Synthesis of the suspected trans-11,cis-13 conjugated linoleic acid isomer in ruminant mammary tissue by FADS3-catalyzed Δ13-desaturation of vaccenic acid. 61
27865506 2017
21
Alternative splicing generates novel Fads3 transcript in mice. 61
27216536 2016
22
Association of polyunsaturated fatty acids in breast milk with fatty acid desaturase gene polymorphisms among Chinese lactating mothers. 61
27269715 2016
23
Genetic Variants of the FADS Gene Cluster Are Associated with Erythrocyte Membrane LC PUFA Levels in Patients with Mild Cognitive Impairment. 61
27273350 2016
24
Genomic structural analysis of porcine fatty acid desaturase cluster on chromosome 2. 61
25409917 2015
25
Fatty acid desaturase 1 gene polymorphisms control human hepatic lipid composition. 61
25123259 2015
26
Effects of FADS and ELOVL polymorphisms on indexes of desaturase and elongase activities: results from a pre-post fish oil supplementation. 61
25367143 2014
27
Genetic variants in desaturase gene, erythrocyte fatty acids, and risk for type 2 diabetes in Chinese Hans. 61
24985009 2014
28
Control of adipose tissue expandability in response to high fat diet by the insulin-like growth factor-binding protein-4. 61
24778188 2014
29
Unsaturated fatty acids, desaturases, and human health. 61
24460221 2014
30
The 51 kDa FADS3 is secreted in the ECM of hepatocytes and blood in rat. 61
23966218 2014
31
Trans-vaccenate is Δ13-desaturated by FADS3 in rodents. 61
24070791 2013
32
Dietary arachidonic acid and docosahexaenoic acid regulate liver fatty acid desaturase (FADS) alternative transcript expression in suckling piglets. 61
24075244 2013
33
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. 61
23818766 2013
34
Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts. 61
22398025 2013
35
The polypyrimidine tract binding protein regulates desaturase alternative splicing and PUFA composition. 61
21980057 2011
36
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. 61
21513558 2011
37
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. 61
21106917 2011
38
FADS gene polymorphisms in Koreans: association with ω6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease. 61
21040914 2011
39
Fatty Acid Desaturase 3 (Fads3) is a singular member of the Fads cluster. 61
20226833 2011
40
Separating the contribution of glucocorticoids and wakefulness to the molecular and electrophysiological correlates of sleep homeostasis. 61
20857860 2010
41
Alternative transcripts of fatty acid desaturase (FADS) genes. 61
20236814 2010
42
The fatty acid desaturase 3 gene encodes for different FADS3 protein isoforms in mammalian tissues. 61
19752397 2010
43
Novel fatty acid desaturase 3 (FADS3) transcripts generated by alternative splicing. 61
19573581 2009
44
Genetic determinants of circulating sphingolipid concentrations in European populations. 61
19798445 2009
45
A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. 61
19750004 2009
46
Common variants at 30 loci contribute to polygenic dyslipidemia. 61
19060906 2009
47
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. 61
19148276 2009
48
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 61
19060911 2009
49
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. 61
18320251 2008
50
Gene expression pattern of functional neuronal cells derived from human bone marrow mesenchymal stromal cells. 61
18405367 2008

Variations for Fetal Akinesia Deformation Sequence 3

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOK7 NM_173660.5(DOK7):c.331+1G>TSNV Pathogenic 449547 rs1349476281 4:3475364-3475364 4:3473637-3473637
2 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs)duplication Pathogenic 1274 rs606231129 4:3494969-3494970 4:3493242-3493243

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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