FADS1
MCID: FTL069
MIFTS: 63

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 57 73
Fetal Akinesia Deformation Sequence 57 20 58 73 36 29 13
Fetal Akinesia Sequence 57 12 20 73 29 6
Fads 57 12 20 58 73
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 57 20 73
Pena-Shokeir Syndrome Type 1 12 58 73
Fads1 57 12 73
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome 12 58
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 74 20
Fetal Akinesia Deformation Sequence Syndrome 12 15
Pena-Shokeir Syndrome Type I 29 6
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 20
Fetal Akinesia Deformation Sequence Syndrome 1 12
Foetal Akinesia Deformation Sequence Syndrome 12
Akinesia, Fetal, Deformation Sequence, Type 1 39
Fetal Akinesia Deformation Sequence; Fads 57
Akinesia, Fetal, Deformation Sequence 39
Pena-Shokeir Syndrome, Type I 57
Pena-Shokeir Syndrome, Type 1 20
Pena Shokeir Syndrome, Type 1 44
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
fetal akinesia deformation sequence 1:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Fetal Akinesia Deformation Sequence 1

GARD : 20 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 multiple pterygium syndrome, escobar variant and polyhydramnios. An important gene associated with Fetal Akinesia Deformation Sequence 1 is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Agrin Interactions at Neuromuscular Junction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Dexamethasone acetate and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, placenta and skeletal muscle, and related phenotypes are respiratory insufficiency and intrauterine growth retardation

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® : 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). (208150) (Updated 05-Mar-2021)

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, describes congenital joint contracture in two or more areas of the body. It derives its... 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 175)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 31.6 RYR1 RAPSN PIEZO2 DOK7 CHRNG CHRND
2 polyhydramnios 31.5 RAPSN NUP88 MUSK DOK7 CNTNAP1
3 myopathy 31.5 RYR1 RAPSN MYOD1 DOK7 ADSS1 ACTA1
4 multiple pterygium syndrome, lethal type 31.4 RYR1 RAPSN CHRNG CHRND
5 neuromuscular disease 31.3 RYR1 RAPSN MYOD1 MUSK DOK7 CHRNG
6 congenital myasthenic syndrome 31.3 SLC18A3 RYR1 RAPSN MUSK DOK7 CHRNG
7 congenital contractures 31.3 RYR1 CHRNG ASCC1
8 myasthenia gravis 31.3 RYR1 RAPSN MUSK CHRNG
9 distal arthrogryposis 31.3 SETBP1 RYR1 RAPSN PIEZO2 MYOD1 CNTNAP1
10 muscular atrophy 31.2 RYR1 ATP2B3 ASCC1 ASAH1
11 cystic lymphangioma 31.1 CHRNG CHRND
12 hydrops fetalis, nonimmune 30.9 RYR1 RAPSN
13 congenital arthrogryposis with anterior horn cell disease 11.5
14 glycogen storage disease iv 11.4
15 lissencephaly type 3-familial fetal akinesia sequence syndrome 11.3
16 type 2 diabetes mellitus 11.1
17 major depressive disorder 11.1
18 neuroblastoma 11.1
19 lipid metabolism disorder 11.1
20 body mass index quantitative trait locus 11 11.1
21 diabetes mellitus 11.0
22 attention deficit-hyperactivity disorder 11.0
23 retinitis pigmentosa 11.0
24 fetal akinesia deformation sequence 4 10.9
25 vitelliform macular dystrophy 10.9
26 fetal akinesia deformation sequence 2 10.7
27 congenital amyoplasia 10.6
28 postsynaptic congenital myasthenic syndromes 10.6 RAPSN MUSK DOK7 CHRND
29 myasthenic syndrome, congenital, 19 10.6 SLC18A3 RAPSN MUSK DOK7
30 ptosis 10.6 SLC18A3 RYR1 RAPSN PIEZO2 MUSK DOK7
31 neuromuscular junction disease 10.6 RAPSN MUSK DOK7 CHRNG CHRND
32 myasthenic syndrome, congenital, 21, presynaptic 10.6 SLC18A3 RAPSN DOK7
33 cenani-lenz syndactyly syndrome 10.6 RAPSN MUSK DOK7
34 myasthenic syndrome, congenital, 13 10.6 RAPSN DOK7 CHRND
35 autoimmune disease of peripheral nervous system 10.5 RAPSN MUSK CNTNAP1
36 ocular motility disease 10.5 RYR1 RAPSN MUSK
37 peripheral nervous system disease 10.5 RYR1 RAPSN MUSK DOK7 CHRNG
38 congenital myopathy with cores 10.5 RYR1 ACTA1
39 multiple cranial nerve palsy 10.5 MUSK CNTNAP1
40 microphthalmia, isolated 1 10.5 CHRNG CHRND
41 glossopharyngeal nerve disease 10.5 MUSK CNTNAP1
42 neonatal myasthenia gravis 10.5 MUSK CHRNG
43 sclerosteosis 2 10.5 RAPSN DOK7
44 anterior horn cell disease 10.5 NUP88 EXOSC3
45 cleft palate, isolated 10.5
46 microcephaly 1, primary, autosomal recessive 10.4 EXOSC3 ASPM
47 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.4 RAPSN MUSK
48 muscular dystrophy, congenital, lmna-related 10.4 RYR1 MYOD1 DOK7
49 clubfoot 10.4
50 cohen syndrome 10.4 RYR1 EXOSC3 ATP2B3

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 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
15 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
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 ptosis 31 HP:0000508
26 high palate 31 HP:0000218
27 hydrocephalus 31 HP:0000238
28 short neck 31 HP:0000470
29 high, narrow palate 31 HP:0002705
30 slender long bone 31 HP:0003100
31 talipes equinovarus 31 HP:0001762
32 narrow mouth 31 HP:0000160
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®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
hypertelorism
telecanthus
short palpebral fissures
prominent eyes

Head And Neck Neck:
short neck

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

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

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 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 MUSK
2 Decreased viability GR00055-A-2 9.7 MUSK
3 Decreased viability GR00173-A 9.7 MUSK
4 Decreased viability GR00221-A-1 9.7 MUSK
5 Decreased viability GR00221-A-4 9.7 MUSK
6 Decreased viability GR00240-S-1 9.7 ASAH1 PIEZO2 RAPSN
7 Decreased viability GR00249-S 9.7 NUP88 PIEZO2 RAPSN RYR1
8 Decreased viability GR00381-A-1 9.7 ASAH1 PIEZO2
9 Decreased viability GR00386-A-1 9.7 ASAH1 ATP2B3 CHRND CNTNAP1 NUP88 SLC18A3
10 Decreased viability GR00402-S-2 9.7 CNTNAP1 EXOSC3 PIEZO2 RAPSN

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 ACTA1 ALDH5A1 ASAH1 ATP2B3 CHRNG CNTNAP1
2 growth/size/body region MP:0005378 10.13 ACTA1 ALDH5A1 ASAH1 ASCC1 ASPM CHRNG
3 mortality/aging MP:0010768 10.13 ACTA1 ALDH5A1 ASAH1 ASCC1 CHRNG CNTNAP1
4 muscle MP:0005369 9.9 ACTA1 ALDH5A1 ASAH1 CHRNG CNTNAP1 DOK7
5 nervous system MP:0003631 9.7 ALDH5A1 ASAH1 ASPM CHRNG CNTNAP1 DOK7
6 respiratory system MP:0005388 9.17 ASAH1 CHRNG DOK7 MUSK MYOD1 RAPSN

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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
4
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
5
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
6
Bromocriptine Approved, Investigational Phase 1, Phase 2 25614-03-3 31101
7 Immunosuppressive Agents Phase 2
8 Immunologic Factors Phase 2
9 Anti-Infective Agents Phase 2
10 Antimetabolites Phase 2
11 Antiviral Agents Phase 2
12 Dopamine Agents Phase 1, Phase 2
13 Dopamine agonists Phase 1, Phase 2
14 Antiparkinson Agents Phase 1, Phase 2
15 Neurotransmitter Agents Phase 1, Phase 2
16
Borage oil Approved, Investigational
17
Calcium polycarbophil Approved 126040-58-2
18 Soy Bean
19 Antirheumatic Agents
20 Borage
21 Cathartics
22 Psyllium
23 Gastrointestinal Agents
24 Laxatives
25 Trace Elements Early Phase 1
26 Micronutrients Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fluocinolone Acetonide Insert (ILUVIEN®) for Diabetic Macular Edema (FAD) Study Withdrawn NCT02902744 Phase 4 ILUVIEN®
2 Phase II Study of Orally Fludarabine, Adriamycin and Dexamethasone (FAD) in Newly Diagnosed PTCL Unknown status NCT00840385 Phase 2 FAD
3 Double-Blind Comparative Trial and Open-Label Extension Trial to Investigate the Safety and Efficacy of TW-012R in Alzheimer's Disease With Presenilin 1 (PSEN1) Mutations Recruiting NCT04413344 Phase 1, Phase 2 Bromocriptine;Placebos
4 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
5 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
6 Effect of a Nutritional Intervention That Incorporates the Transtheoretical Model of Motivation to Change in Healthy Eating in Patients With Cardiovascular Risk Factors: a Randomized Controlled Trial Completed NCT03296722
7 Knowledge, Attitudes and Practices on Fad Diets of a Panel of Spanish Consumers: Protocol of a Cross-sectional Study Completed NCT04128241
8 Fiber and Diabetes (FAD) Study: Effect of Psyllium vs. Wheat Dextrin on Glycemic Control and Inflammatory Markers in DM2 Recruiting NCT04547790
9 MANAGEMENT OF PATIENTS WITH TYPE 2 DIABETES MELLITUS HOSPITALIZED IN INTERNAL MEDICINE UNITS: A Multicenter Study Before & After Educational Program, With Cluster Randomization (MINDER Study) Not yet recruiting NCT04589533
10 A Randomised Controlled Trial to Test the Effects of Fish Aggregating Devices and SBC Activities Promoting Fish Consumption in Timor-Leste Not yet recruiting NCT04729829 Early Phase 1

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
Bone, Placenta, Skeletal Muscle, Brain

Publications for Fetal Akinesia Deformation Sequence 1

Articles related to Fetal Akinesia Deformation Sequence 1:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. 57 6 61
25537362 2015
2
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 61 57 6
25612909 2015
3
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 57 61
22167768 2012
4
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 57 61
19261599 2009
5
Fetal akinesia deformation sequence in previable fetuses. 57 61
3344777 1988
6
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature. 61 57
3053754 1988
7
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. 61 57
3278614 1988
8
The heterogeneity of the Pena-Shokeir syndrome. 57 61
3561707 1987
9
Fetal akinesia deformation sequence: an animal model. 57 61
6685864 1983
10
Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. 57
10797415 2000
11
Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. 57
10194476 1999
12
Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. 57
8941654 1996
13
The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. 57
8653786 1996
14
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. 57
7603140 1995
15
Fetal akinesia and multiple perinatal fractures. 57
7762589 1995
16
Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. 57
8363059 1993
17
Lethal Pena-Shokeir 1 syndrome in three male siblings. 57
1605680 1992
18
Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings. 57
2670346 1989
19
Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. 57
2672815 1989
20
Pathologic features in two siblings with the Pena-Shokeir I syndrome. 57
3595647 1987
21
Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. 57
3541607 1986
22
Analysis of Pena Shokeir phenotype. 57
3541610 1986
23
The Pena-Shokeir syndrome: report of nine Dutch cases. 57
3895932 1985
24
Prenatal diagnosis of Pena-Shokeir syndrome type 1. 57
3893126 1985
25
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? 57
4040328 1985
26
The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. 57
6650566 1983
27
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. 57
6875715 1983
28
Limb pterygium syndromes: a review and report of eleven patients. 57
7124793 1982
29
Separating Pena-Shokeir I syndrome from the "arthrogryposis basket". 57
7328099 1981
30
Multiple pterygium syndrome. 57
7468651 1980
31
Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms? 57
669973 1978
32
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. 57
4431498 1974
33
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia. 57
4154411 1974
34
Experimental clubfoot and arthrogryposis multiplex congenita. 57
13887680 1962
35
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. 61
33296147 2020
36
Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts. 61
33168876 2020
37
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence. 61
32812332 2020
38
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. 61
33060286 2020
39
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2020
40
Null variants in AGRN cause lethal fetal akinesia deformation sequence. 61
31730230 2020
41
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. 61
31880392 2020
42
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. 61
30991114 2020
43
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report. 61
31750350 2019
44
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 61
31136762 2019
45
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
46
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. 61
31218730 2019
47
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 61
31059209 2019
48
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. 61
30293990 2019
49
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. 61
30719842 2019
50
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. 61
30652412 2019

Variations for Fetal Akinesia Deformation Sequence 1

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 1:

6 (show top 50) (show all 644)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) SNV Pathogenic 692274 rs1597802927 17:40835840-40835840 17:42683822-42683822
2 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs) Deletion Pathogenic 692288 rs1600783776 19:38979887-38979887 19:38489247-38489247
3 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs) Deletion Pathogenic 692295 rs769542442 14:105207522-105207522 14:104741185-104741185
4 RYR1 NM_000540.3(RYR1):c.14647-15_14649del Deletion Pathogenic 692285 rs1599673988 19:39075562-39075579 19:38584922-38584939
5 RAPSN NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) SNV Pathogenic 476121 rs1479498379 11:47469525-47469525 11:47447973-47447973
6 RAPSN NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) SNV Pathogenic 476126 rs1555142603 11:47463222-47463222 11:47441670-47441670
7 RAPSN NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) SNV Pathogenic 664620 rs201947904 11:47460452-47460452 11:47438901-47438901
8 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) SNV Pathogenic 802677 rs1595903667 11:47470456-47470456 11:47448904-47448904
9 DOK7 NC_000004.12:g.(?_3463366)_(3493511_?)del Deletion Pathogenic 831089 4:3465093-3495238
10 RAPSN NC_000011.10:g.(?_47447802)_(47449175_?)del Deletion Pathogenic 832215 11:47469354-47470727
11 DOK7 NC_000004.12:g.(?_3485529)_(3485668_?)del Deletion Pathogenic 832528 4:3487256-3487395
12 RAPSN NC_000011.10:g.(?_47437965)_(47438941_?)del Deletion Pathogenic 832988 11:47459516-47460492
13 RAPSN NM_005055.5(RAPSN):c.493G>A (p.Val165Met) SNV Pathogenic 856323 11:47469402-47469402 11:47447850-47447850
14 MUSK NM_005592.4(MUSK):c.496C>T (p.Arg166Ter) SNV Pathogenic 849716 9:113459614-113459614 9:110697334-110697334
15 RAPSN NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) SNV Pathogenic 939708 11:47469537-47469537 11:47447985-47447985
16 MUSK NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter) SNV Pathogenic 947675 9:113547955-113547955 9:110785675-110785675
17 RAPSN NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) SNV Pathogenic 947985 11:47460384-47460384 11:47438833-47438833
18 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) SNV Pathogenic 802677 rs1595903667 11:47470456-47470456 11:47448904-47448904
19 MUSK NM_005592.4(MUSK):c.1626del (p.Glu542fs) Deletion Pathogenic 963084 9:113547846-113547846 9:110785566-110785566
20 RAPSN NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) SNV Pathogenic 8056 rs121909255 11:47469411-47469411 11:47447859-47447859
21 RAPSN NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) Deletion Pathogenic 632161 rs765096923 11:47460404-47460420 11:47438853-47438869
22 MUSK NM_005592.4(MUSK):c.40dup (p.Thr14fs) Duplication Pathogenic 190466 rs863223335 9:113431223-113431224 9:110668943-110668944
23 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) Duplication Pathogenic 692286 rs1568454672 19:38951153-38951154 19:38460513-38460514
24 RAPSN NM_005055.5(RAPSN):c.1116_1118GAA[1] (p.Lys373del) Microsatellite Pathogenic 847394 11:47460328-47460330 11:47438777-47438779
25 RAPSN NM_005055.5(RAPSN):c.11dup (p.Asp4fs) Duplication Pathogenic 952498 11:47470505-47470506 11:47448953-47448954
26 MUSK NM_005592.4(MUSK):c.2368G>A (p.Val790Met) SNV Pathogenic 8239 rs199476083 9:113563026-113563026 9:110800746-110800746
27 RAPSN NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) SNV Pathogenic 497298 rs375218091 11:47469623-47469623 11:47448071-47448071
28 MUSK NC_000009.12:g.(?_110734231)_(110734395_?)del Deletion Pathogenic 476127 9:110734231-110734395
29 DOK7 NC_000004.12:g.(?_3473386)_(3489816_?)del Deletion Pathogenic 465668 4:3475113-3491543 4:3473386-3489816
30 DOK7 NC_000004.12:g.(?_3485519)_(3493521_?)del Deletion Pathogenic 465669 4:3487246-3495248 4:3485519-3493521
31 RAPSN NC_000011.10:g.(?_47437955)_(47438951_?)del Deletion Pathogenic 542739 11:47459506-47460502 11:47437955-47438951
32 MUSK NC_000009.12:g.(?_110668885)_(110801008_?)del Deletion Pathogenic 583579 9:113431165-113563288 9:110668885-110801008
33 DOK7 NC_000004.12:g.(?_3485529)_(3493511_?)del Deletion Pathogenic 644832 4:3487256-3495238 4:3485529-3493511
34 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs) Duplication Pathogenic 1274 rs606231129 4:3494969-3494970 4:3493242-3493243
35 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs) Microsatellite Pathogenic 1276 rs606231131 4:3495043-3495044 4:3493316-3493317
36 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs) Duplication Pathogenic 209149 rs761899995 4:3494846-3494847 4:3493119-3493120
37 RAPSN NG_008312.1(RAPSN):g.5005A>G SNV Pathogenic 8051 rs786200905 11:47470726-47470726 11:47449174-47449174
38 DOK7 NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) SNV Pathogenic 560990 rs770987150 4:3478174-3478174 4:3476447-3476447
39 DOK7 NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) SNV Pathogenic 560992 rs768892432 4:3478251-3478251 4:3476524-3476524
40 DOK7 NM_173660.5(DOK7):c.743_744TC[4] (p.His250fs) Microsatellite Pathogenic 583395 rs1560224831 4:3491492-3491493 4:3489765-3489766
41 DOK7 NM_173660.5(DOK7):c.28del (p.Gln10fs) Deletion Pathogenic 654355 rs1560200925 4:3465129-3465129 4:3463402-3463402
42 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter) SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517
43 PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
44 RYR1 NM_001042723.2(RYR1):c.9579C>G (p.Cys3193Trp) SNV Pathogenic 159864 rs587784379 19:39006751-39006751 19:38516111-38516111
45 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) SNV Pathogenic 692271 rs1057521117 1:229567810-229567810 1:229432063-229432063
46 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 10:73921295-73921295 10:72161537-72161537
47 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) SNV Pathogenic 692298 rs774338373 1:197097693-197097693 1:197128563-197128563
48 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Pathogenic 1031 rs267607038 18:42531917-42531917 18:44951952-44951952
49 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 10:73921295-73921295 10:72161537-72161537
50 DOK7 NM_173660.5(DOK7):c.54+25_55-38del Deletion Pathogenic 835508 4:3465170-3465184 4:3463443-3463457

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

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

# Super pathways Score Top Affiliating Genes
1 10.56 RAPSN MUSK ACTA1
2 10.03 RYR1 CHRND

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 cell junction GO:0030054 9.63 RAPSN MUSK DOK7 CNTNAP1 CHRNG CHRND
2 postsynaptic membrane GO:0045211 9.26 RAPSN MUSK CHRNG CHRND
3 neuromuscular junction GO:0031594 8.92 RAPSN MUSK CHRND ASCC1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 RYR1 PIEZO2 CHRNG CHRND ATP2B3
2 chemical synaptic transmission GO:0007268 9.62 SLC18A3 RAPSN CHRNG CHRND
3 ion transmembrane transport GO:0034220 9.55 RYR1 PIEZO2 CHRNG CHRND ATP2B3
4 regulation of membrane potential GO:0042391 9.54 PIEZO2 CHRNG CHRND
5 synaptic transmission, cholinergic GO:0007271 9.43 RAPSN CHRNG
6 skeletal muscle fiber adaptation GO:0043503 9.26 MYOD1 ACTA1
7 muscle contraction GO:0006936 9.26 RYR1 CHRNG CHRND ACTA1
8 skeletal muscle fiber development GO:0048741 8.8 RYR1 MYOD1 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated cation-selective channel activity GO:0022848 8.62 CHRNG CHRND

Sources for Fetal Akinesia Deformation Sequence 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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