FADS1
MCID: FTL069
MIFTS: 64

Fetal Akinesia Deformation Sequence 1 (FADS1)

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

Aliases & Classifications for Fetal Akinesia Deformation Sequence 1

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 1:

Name: Fetal Akinesia Deformation Sequence 1 56 73
Fetal Akinesia Deformation Sequence 56 52 58 73 36 29 13
Fetal Akinesia Sequence 56 12 52 73 29 6
Fads 56 12 52 58 73
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 56 52 73
Pena-Shokeir Syndrome Type 1 12 58 73
Fads1 56 12 73
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome 12 58
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 74 52
Fetal Akinesia Deformation Sequence Syndrome 12 15
Pena-Shokeir Syndrome Type I 29 6
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 52
Fetal Akinesia Deformation Sequence Syndrome 1 12
Foetal Akinesia Deformation Sequence Syndrome 12
Fetal Akinesia Deformation Sequence; Fads 56
Akinesia, Fetal, Deformation Sequence 39
Pena-Shokeir Syndrome, Type I 56
Pena-Shokeir Syndrome, Type 1 52
Pena Shokeir Syndrome, Type 1 43
Foetal Akinesia Sequence 12

Characteristics:

Orphanet epidemiological data:

58
fetal akinesia deformation sequence
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fetal akinesia deformation sequence 1:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Fetal Akinesia Deformation Sequence 1

NIH Rare Diseases : 52 Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis ), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome , but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes .

MalaCards based summary : Fetal Akinesia Deformation Sequence 1, also known as fetal akinesia deformation sequence, is related to fetal akinesia deformation sequence 4 and best vitelliform macular dystrophy. An important gene associated with Fetal Akinesia Deformation Sequence 1 is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Fatty Acyl-CoA Biosynthesis and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. The drugs Soy Bean and Olive have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and placenta, and related phenotypes are intrauterine growth retardation and micrognathia

Disease Ontology : 12 A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has material basis in mutation in a gene associated with the neuromuscular junction.

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). (208150)

KEGG : 36 Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.

UniProtKB/Swiss-Prot : 73 Fetal akinesia deformation sequence 1: 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. FADS1 inheritance is autosomal recessive.

Wikipedia : 74 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Fetal Akinesia Deformation Sequence 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 310)
# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 4 33.3 SCD NUP88 FADS3 FADS2 FADS1 ELOVL5
2 best vitelliform macular dystrophy 32.7 FADS2 FADS1
3 multiple pterygium syndrome, escobar variant 31.8 RYR1 RAPSN PIEZO2 DOK7
4 polyhydramnios 31.8 RAPSN NUP88 MUSK DOK7 CNTNAP1
5 myopathy 31.7 RYR1 RAPSN PIEZO2 MYOD1 DOK7 ADSS1
6 distal arthrogryposis 31.5 RYR1 RAPSN PIEZO2 MYOD1 CNTNAP1 ASPM
7 neuromuscular disease 31.5 RYR1 RAPSN MYOD1 MUSK DOK7 ASCC1
8 congenital myasthenic syndrome 31.5 SLC18A3 RYR1 RAPSN MUSK DOK7
9 myasthenia gravis 31.5 RYR1 RAPSN MUSK DOK7
10 congenital contractures 31.3 RYR1 ASCC1
11 myopathy, congenital 31.1 RYR1 RAPSN ACTA1
12 multiple pterygium syndrome, lethal type 30.9 RYR1 RAPSN
13 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.6
14 glycogen storage disease iv 11.9
15 congenital arthrogryposis with anterior horn cell disease 11.7
16 alzheimer disease 11.7
17 lipid metabolism disorder 11.6
18 early-onset, autosomal dominant alzheimer disease 11.6
19 multiple acyl-coa dehydrogenase deficiency 11.6
20 acyl-coa dehydrogenase deficiency 11.5
21 major depressive disorder 11.4
22 diabetes mellitus, noninsulin-dependent 11.3
23 attention deficit-hyperactivity disorder 11.3
24 retinitis pigmentosa 11.3
25 body mass index quantitative trait locus 11 11.3
26 neuroblastoma 11.3
27 vitelliform macular dystrophy 11.1
28 fetal akinesia deformation sequence 2 10.8
29 arthrogryposis, distal, type 1a 10.8 RYR1 PIEZO2 MYOD1 CNTNAP1 ASPM ASCC1
30 ptosis 10.8 SLC18A3 RYR1 RAPSN PIEZO2 MUSK DOK7
31 postsynaptic congenital myasthenic syndromes 10.8 RAPSN MUSK DOK7
32 peripheral nervous system disease 10.7 RYR1 RAPSN MUSK DOK7 CNTNAP1
33 myasthenic syndrome, congenital, 21, presynaptic 10.7 SLC18A3 RAPSN DOK7
34 cenani-lenz syndactyly syndrome 10.7 RAPSN MUSK DOK7
35 protoporphyria, erythropoietic, 1 10.7 RAPSN MUSK DOK7
36 congenital myopathy with cores 10.7 RYR1 ACTA1
37 ocular motility disease 10.7 RYR1 RAPSN MUSK
38 neuromuscular junction disease 10.7 RAPSN MUSK DOK7
39 acute porphyria 10.7 RAPSN MUSK DOK7
40 fanconi anemia, complementation group d2 10.7 SCD FADS3 FADS2
41 muscular dystrophy, congenital, lmna-related 10.7 RAPSN MYOD1 DOK7 ACTA1
42 sclerosteosis 2 10.6 RAPSN DOK7
43 myasthenic syndrome, congenital, 13 10.6 RAPSN DOK7
44 alkuraya-kucinskas syndrome 10.6
45 congenital amyoplasia 10.6
46 anterior horn cell disease 10.5 NUP88 EXOSC3
47 microcephaly 1, primary, autosomal recessive 10.5 EXOSC3 ASPM
48 cleft palate, isolated 10.4
49 central core myopathy 10.4 RYR1 ACTA1
50 dermatitis 10.4

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 1:



Diseases related to Fetal Akinesia Deformation Sequence 1

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 1

Human phenotypes related to Fetal Akinesia Deformation Sequence 1:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
5 fetal akinesia sequence 58 31 hallmark (90%) Very frequent (99-80%) HP:0001989
6 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
7 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
8 absent palmar crease 58 31 hallmark (90%) Very frequent (99-80%) HP:0010489
9 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
10 excessive daytime somnolence 58 31 hallmark (90%) Very frequent (99-80%) HP:0001262
11 akinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002304
12 hypokinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002375
13 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
14 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 cystic hygroma 58 31 frequent (33%) Frequent (79-30%) HP:0000476
19 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
20 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
21 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
22 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
23 pterygium 58 31 occasional (7.5%) Occasional (29-5%) HP:0001059
24 intestinal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005245
25 short neck 31 HP:0000470
26 hydrocephalus 31 HP:0000238
27 narrow mouth 31 HP:0000160
28 high palate 31 HP:0000218
29 high, narrow palate 31 HP:0002705
30 ptosis 31 HP:0000508
31 slender long bone 31 HP:0003100
32 talipes equinovarus 31 HP:0001762
33 long philtrum 31 HP:0000343
34 proptosis 31 HP:0000520
35 telecanthus 31 HP:0000506
36 blepharophimosis 31 HP:0000581
37 abnormality of pelvic girdle bone morphology 31 HP:0002644
38 absent septum pellucidum 31 HP:0001331
39 premature birth 31 HP:0001622
40 cerebellar hypoplasia 31 HP:0001321
41 depressed nasal tip 31 HP:0000437
42 rocker bottom foot 31 HP:0001838
43 thin ribs 31 HP:0000883
44 small for gestational age 31 HP:0001518
45 thoracic hypoplasia 31 HP:0005257
46 short palpebral fissure 31 HP:0012745
47 elbow ankylosis 31 HP:0003070
48 small placenta 31 HP:0006266
49 short umbilical cord 31 HP:0001196
50 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
telecanthus
short palpebral fissures
prominent eyes

Neurologic Central Nervous System:
hydrocephalus
absent septum pellucidum
cerebellar hypoplasia
cavum septum pellucidum
microgyria

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
long philtrum
rigid, expressionless face

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Nose:
depressed nasal tip

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal Limbs:
elbow ankylosis
knee ankylosis
thin, gracile long bones

Chest External Features:
small thorax

Abdomen Gastrointestinal:
short-gut syndrome

Muscle Soft Tissue:
neurogenic muscle atrophy

Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate
small mouth
high arched palate

Growth Other:
intrauterine growth retardation
small for gestational age

Skeletal Feet:
talipes equinovarus
rocker-bottom feet
ankle ankylosis

Prenatal Manifestations Delivery:
premature birth
stillborn (30%)

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
camptodactyly
ulnar deviation of hands
absent or sparse dermal ridges

Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord
small or abnormal placenta

Head And Neck Ears:
small, posteriorly rotated ears
poorly folded ears

Skeletal Pelvis:
hip ankylosis

Clinical features from OMIM:

208150

GenomeRNAi Phenotypes related to Fetal Akinesia Deformation Sequence 1 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.77 MUSK
2 Decreased viability GR00055-A-2 9.77 MUSK
3 Decreased viability GR00173-A 9.77 MUSK
4 Decreased viability GR00221-A-1 9.77 MUSK
5 Decreased viability GR00221-A-4 9.77 MUSK
6 Decreased viability GR00240-S-1 9.77 PIEZO2 RAPSN SCD
7 Decreased viability GR00249-S 9.77 FADS3 NUP88 PIEZO2 PRICKLE4 RAPSN RYR1
8 Decreased viability GR00381-A-1 9.77 FADS3 PIEZO2
9 Decreased viability GR00381-A-3 9.77 FADS3
10 Decreased viability GR00386-A-1 9.77 CNTNAP1 ELOVL5 FADS3 NUP88 SLC18A3
11 Decreased viability GR00402-S-2 9.77 CNTNAP1 EXOSC3 FADS3 PIEZO2 RAPSN SCD

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ACTA1 CNTNAP1 DOK7 FADS1 FADS2 FADS3
2 growth/size/body region MP:0005378 10 ACTA1 ASCC1 ASPM CNTNAP1 DOK7 FADS2
3 mortality/aging MP:0010768 10 ACTA1 ASCC1 CNTNAP1 DOK7 EXOSC3 FADS1
4 adipose tissue MP:0005375 9.85 ACTA1 ASPM DOK7 MYOD1 RYR1 SCD
5 muscle MP:0005369 9.56 ACTA1 CNTNAP1 DOK7 MUSK MYOD1 RAPSN
6 reproductive system MP:0005389 9.28 ACTA1 ASPM CNTNAP1 ELOVL5 FADS1 FADS2

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 1

Drugs for Fetal Akinesia Deformation Sequence 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Phase 4
2 Olive Phase 4
3 Fat Emulsions, Intravenous Phase 4
4 Soybean oil, phospholipid emulsion Phase 4
5 Parenteral Nutrition Solutions Phase 4
6 Pharmaceutical Solutions Phase 4
7 Phytosterol Phase 4
8 Liver Extracts Phase 4
9
Borage oil Approved, Investigational
10 Sunflower
11 Borage
12 Antirheumatic Agents
13 Flax
14 Omega 3 Fatty Acid
15 Linoleate

Interventional clinical trials:

(show all 13)
# 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 Fatty Acid Desaturase Activity, Fish Oil and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid
3 Effects of a Ketogenic Diet on Body Weight and Cardiovascular Risk Factors Completed NCT00498394 Phase 1
4 n-3 Fatty Acids and Early Child Nutrition: 5-Year-Olds X-Section Study Completed NCT01112930
5 Gene - Diet Interactions in Fatty Acid Desaturase 1 Gene (FADSDIET) Completed NCT02543216
6 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
7 Role of Fatty Acid Desaturase(s) (FADS) Polymorphisms in Determining the In Vivo Metabolism of Polyunsaturated Fatty Acids (PUFAs) in Botanical Oils in Humans. Completed NCT02337231
8 Fish and Marine Fatty Acids, Genetic Signatures of Diet Adaptation, and Long-term Weight Change Completed NCT03348566
9 Canola and Flax Oils in Modulation of Vascular Function and Biomarkers of Cardiovascular Disease Risk Completed NCT01351012
10 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Completed NCT03572205
11 The Influence of Fish Consumption on Polyunsaturated Fatty Acid (PUFA) Status (iFish Study) Completed NCT03765580
12 Effect of FISH Intake on MEtabolic Health in a Diabetic South Asian popuLation (FISH MEAL) Recruiting NCT02840630
13 Role of PUFA-Gene Interactions in Health Disparities Active, not recruiting NCT02962128

Search NIH Clinical Center for Fetal Akinesia Deformation Sequence 1

Cochrane evidence based reviews: pena shokeir syndrome, type 1

Genetic Tests for Fetal Akinesia Deformation Sequence 1

Genetic tests related to Fetal Akinesia Deformation Sequence 1:

# Genetic test Affiliating Genes
1 Pena-Shokeir Syndrome Type I 29 MUSK
2 Fetal Akinesia Sequence 29
3 Fetal Akinesia Deformation Sequence 29

Anatomical Context for Fetal Akinesia Deformation Sequence 1

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence 1:

40
Lung, Bone, Placenta, Eye, Liver, Skeletal Muscle, Brain

Publications for Fetal Akinesia Deformation Sequence 1

Articles related to Fetal Akinesia Deformation Sequence 1:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. 6 56 61
25537362 2015
2
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 61 6 56
25612909 2015
3
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 61 56
22167768 2012
4
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 56 61
19261599 2009
5
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. 56 61
3278614 1988
6
Fetal akinesia deformation sequence in previable fetuses. 61 56
3344777 1988
7
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature. 56 61
3053754 1988
8
The heterogeneity of the Pena-Shokeir syndrome. 56 61
3561707 1987
9
Fetal akinesia deformation sequence: an animal model. 61 56
6685864 1983
10
Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. 56
10797415 2000
11
Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. 56
10194476 1999
12
Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. 56
8941654 1996
13
The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. 56
8653786 1996
14
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. 56
7603140 1995
15
Fetal akinesia and multiple perinatal fractures. 56
7762589 1995
16
Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. 56
8363059 1993
17
Lethal Pena-Shokeir 1 syndrome in three male siblings. 56
1605680 1992
18
Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings. 56
2670346 1989
19
Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. 56
2672815 1989
20
Pathologic features in two siblings with the Pena-Shokeir I syndrome. 56
3595647 1987
21
Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. 56
3541607 1986
22
Analysis of Pena Shokeir phenotype. 56
3541610 1986
23
The Pena-Shokeir syndrome: report of nine Dutch cases. 56
3895932 1985
24
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? 56
4040328 1985
25
Prenatal diagnosis of Pena-Shokeir syndrome type 1. 56
3893126 1985
26
The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. 56
6650566 1983
27
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. 56
6875715 1983
28
Limb pterygium syndromes: a review and report of eleven patients. 56
7124793 1982
29
Separating Pena-Shokeir I syndrome from the "arthrogryposis basket". 56
7328099 1981
30
Multiple pterygium syndrome. 56
7468651 1980
31
Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms? 56
669973 1978
32
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. 56
4431498 1974
33
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia. 56
4154411 1974
34
Experimental clubfoot and arthrogryposis multiplex congenita. 56
13887680 1962
35
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2020
36
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. 61
31880392 2020
37
Null variants in AGRN cause lethal fetal akinesia deformation sequence. 61
31730230 2020
38
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. 61
30991114 2020
39
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report. 61
31750350 2019
40
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
41
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 61
31136762 2019
42
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. 61
31218730 2019
43
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 61
31059209 2019
44
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. 61
30293990 2019
45
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. 61
30719842 2019
46
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. 61
30652412 2019
47
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study. 61
30578734 2019
48
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. 61
30303820 2019
49
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. 61
30543681 2018
50
Pena-Shokeir syndrome: current management strategies and palliative care. 61
30498368 2018

Variations for Fetal Akinesia Deformation Sequence 1

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 1:

6 (show top 50) (show all 542) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOK7 NC_000004.12:g.(?_3485519)_(3493521_?)deldeletion Pathogenic 465669 4:3487246-3495248 4:3485519-3493521
2 DOK7 NC_000004.12:g.(?_3473386)_(3489816_?)deldeletion Pathogenic 465668 4:3475113-3491543 4:3473386-3489816
3 MUSK NC_000009.12:g.(?_110734231)_(110734395_?)deldeletion Pathogenic 476127 9:110734231-110734395
4 RAPSN NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)SNV Pathogenic 476126 rs1555142603 11:47463222-47463222 11:47441670-47441670
5 RAPSN NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)SNV Pathogenic 476121 rs1479498379 11:47469525-47469525 11:47447973-47447973
6 RAPSN NC_000011.10:g.(?_47437955)_(47438951_?)deldeletion Pathogenic 542739 11:47459506-47460502 11:47437955-47438951
7 DOK7 NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)SNV Pathogenic 560990 rs770987150 4:3478174-3478174 4:3476447-3476447
8 DOK7 NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)SNV Pathogenic 560992 rs768892432 4:3478251-3478251 4:3476524-3476524
9 DOK7 NM_173660.5(DOK7):c.743_744TC[4] (p.His250fs)short repeat Pathogenic 583395 rs1560224831 4:3491492-3491493 4:3489765-3489766
10 ASCC1 NM_001198800.3(ASCC1):c.626+1G>ASNV Pathogenic 619021 10:73921295-73921295 10:72161537-72161537
11 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter)SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
12 DOK7 NM_173660.5(DOK7):c.28del (p.Gln10fs)deletion Pathogenic 654355 4:3465129-3465129 4:3463402-3463402
13 MUSK NC_000009.12:g.(?_110668885)_(110801008_?)deldeletion Pathogenic 583579 9:113431165-113563288 9:110668885-110801008
14 RAPSN NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)SNV Pathogenic 664620 11:47460452-47460452 11:47438901-47438901
15 DOK7 NC_000004.12:g.(?_3485529)_(3493511_?)deldeletion Pathogenic 644832 4:3487256-3495238 4:3485529-3493511
16 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)SNV Pathogenic 692298 1:197097693-197097693 1:197128563-197128563
17 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)SNV Pathogenic 692271 1:229567810-229567810 1:229432063-229432063
18 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs)deletion Pathogenic 692295 14:105207522-105207522 14:104741185-104741185
19 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)SNV Pathogenic 692274 17:40835840-40835840 17:42683822-42683822
20 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)duplication Pathogenic 692286 19:38951153-38951154 19:38460513-38460514
21 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs)deletion Pathogenic 692288 19:38979887-38979887 19:38489247-38489247
22 RYR1 NM_000540.3(RYR1):c.14647-15_14649deldeletion Pathogenic 692285 19:39075562-39075579 19:38584922-38584939
23 DOK7 NC_000004.12:g.(?_3463366)_(3493511_?)deldeletion Pathogenic 831089 4:3465093-3495238
24 DOK7 NC_000004.12:g.(?_3485529)_(3485668_?)deldeletion Pathogenic 832528 4:3487256-3487395
25 RAPSN NC_000011.10:g.(?_47437965)_(47438941_?)deldeletion Pathogenic 832988 11:47459516-47460492
26 RAPSN NC_000011.10:g.(?_47447802)_(47449175_?)deldeletion Pathogenic 832215 11:47469354-47470727
27 DOK7 NM_173660.5(DOK7):c.810_811del (p.His272fs)deletion Pathogenic 841000 4:3494523-3494524 4:3492796-3492797
28 MUSK NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)SNV Pathogenic 849716 9:113459614-113459614 9:110697334-110697334
29 DOK7 NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)SNV Pathogenic 853396 4:3478194-3478194 4:3476467-3476467
30 DOK7 NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)duplication Pathogenic 854520 4:3495120-3495121 4:3493393-3493394
31 RAPSN NM_005055.5(RAPSN):c.1116_1118GAA[1] (p.Lys373del)short repeat Pathogenic 847394 11:47460328-47460330 11:47438777-47438779
32 RAPSN NM_005055.5(RAPSN):c.493G>A (p.Val165Met)SNV Pathogenic 856323 11:47469402-47469402 11:47447850-47447850
33 DOK7 NM_173660.5(DOK7):c.1143del (p.Glu382fs)deletion Pathogenic 802049 4:3494852-3494852 4:3493125-3493125
34 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)SNV Pathogenic 802677 11:47470456-47470456 11:47448904-47448904
35 DOK7 NM_173660.5(DOK7):c.54+25_55-38deldeletion Pathogenic 835508 4:3465170-3465184 4:3463443-3463457
36 DOK7 NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)duplication Pathogenic 1273 rs606231128 4:3494833-3494834 4:3493106-3493107
37 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs)duplication Pathogenic 1274 rs606231129 4:3494969-3494970 4:3493242-3493243
38 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs)short repeat Pathogenic 1276 rs606231131 4:3495043-3495044 4:3493316-3493317
39 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953
40 RAPSN NM_005055.4(RAPSN):c.-210A>GSNV Pathogenic 8051 rs786200905 11:47470726-47470726 11:47449174-47449174
41 MUSK NM_005592.4(MUSK):c.40dup (p.Thr14fs)duplication Pathogenic 190466 rs863223335 9:113431223-113431224 9:110668943-110668944
42 PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His)SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
43 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs)duplication Pathogenic 209149 rs761899995 4:3494846-3494847 4:3493119-3493120
44 MUSK NM_005592.4(MUSK):c.79+2T>GSNV Pathogenic 211542 rs200783529 9:113431265-113431265 9:110668985-110668985
45 ASPM NM_018136.5(ASPM):c.3082+1G>CSNV Pathogenic/Likely pathogenic 280518 rs886041709 1:197094175-197094175 1:197125045-197125045
46 DOK7 NM_173660.5(DOK7):c.513C>T (p.Gly171=)SNV Pathogenic/Likely pathogenic 429791 rs775583136 4:3478250-3478250 4:3476523-3476523
47 GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)SNV Likely pathogenic 425301 rs552094593 3:81586172-81586172 3:81537021-81537021
48 GLDN NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)SNV Likely pathogenic 452116 rs750803388 15:51696723-51696723 15:51404526-51404526
49 DOK7 NM_173660.5(DOK7):c.957dup (p.Lys320fs)duplication Likely pathogenic 465693 rs794727884 4:3494664-3494665 4:3492937-3492938
50 RYR1 NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)SNV Likely pathogenic 692292 19:38990631-38990631 19:38499991-38499991

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence 1:

73
# Symbol AA change Variation ID SNP ID
1 MUSK p.Ile575Thr VAR_072787 rs751889864

Expression for Fetal Akinesia Deformation Sequence 1

Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence 1.

Pathways for Fetal Akinesia Deformation Sequence 1

GO Terms for Fetal Akinesia Deformation Sequence 1

Cellular components related to Fetal Akinesia Deformation Sequence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.8 RAPSN MUSK ASCC1

Biological processes related to Fetal Akinesia Deformation Sequence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 SCD FADS3 FADS2 FADS1 ELOVL5
2 fatty acid metabolic process GO:0006631 9.65 SCD FADS3 FADS2 FADS1 ELOVL5
3 skeletal muscle fiber development GO:0048741 9.54 RYR1 MYOD1 ACTA1
4 linoleic acid metabolic process GO:0043651 9.5 FADS2 FADS1 ELOVL5
5 skeletal muscle fiber adaptation GO:0043503 9.4 MYOD1 ACTA1
6 fatty acid biosynthetic process GO:0006633 9.35 SCD FADS3 FADS2 FADS1 ELOVL5
7 alpha-linolenic acid metabolic process GO:0036109 9.33 FADS2 FADS1 ELOVL5
8 unsaturated fatty acid biosynthetic process GO:0006636 9.02 SCD FADS3 FADS2 FADS1 ELOVL5

Molecular functions related to Fetal Akinesia Deformation Sequence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water GO:0016717 9.16 SCD FADS1
2 stearoyl-CoA 9-desaturase activity GO:0004768 8.96 SCD FADS2
3 linoleoyl-CoA desaturase activity GO:0016213 8.62 FADS2 FADS1

Sources for Fetal Akinesia Deformation Sequence 1

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
Content
Loading form....