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 72
Fetal Akinesia Deformation Sequence 57 20 58 72 36 29 13
Fetal Akinesia Sequence 57 12 20 72 29 6
Fads 57 12 20 58 72
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 57 20 72
Pena-Shokeir Syndrome Type 1 12 58 72
Pena-Shokeir Syndrome Type I 29 6 70
Fads1 57 12 72
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome 12 58
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 73 20
Fetal Akinesia Deformation Sequence Syndrome 12 15
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-Apr-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 Fludarabine and Dexamethasone 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-Apr-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 : 72 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 : 73 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 180)
# 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 30.8 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 11.1
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 muscular dystrophy, congenital, lmna-related 10.6 RYR1 RAPSN MYOD1 DOK7 ACTA1
33 myasthenic syndrome, congenital, 21, presynaptic 10.6 SLC18A3 RAPSN DOK7
34 cenani-lenz syndactyly syndrome 10.5 RAPSN MUSK DOK7
35 myasthenic syndrome, congenital, 13 10.5 RAPSN DOK7 CHRND
36 autoimmune disease of peripheral nervous system 10.5 RAPSN MUSK CNTNAP1
37 ocular motility disease 10.5 RYR1 RAPSN MUSK
38 peripheral nervous system disease 10.5 RYR1 RAPSN MUSK DOK7 CHRNG
39 congenital myopathy with cores 10.5 RYR1 ACTA1
40 multiple cranial nerve palsy 10.5 MUSK CNTNAP1
41 microphthalmia, isolated 1 10.5 CHRNG CHRND
42 glossopharyngeal nerve disease 10.5 MUSK CNTNAP1
43 neonatal myasthenia gravis 10.5 MUSK CHRNG
44 sclerosteosis 2 10.5 RAPSN DOK7
45 cleft palate, isolated 10.5
46 anterior horn cell disease 10.4 NUP88 EXOSC3
47 microcephaly 1, primary, autosomal recessive 10.4 EXOSC3 ASPM
48 clubfoot 10.4
49 cohen syndrome 10.4 RYR1 EXOSC3 ATP2B3
50 hypertelorism 10.3

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-Apr-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-Apr-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
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
5
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
6
Bromocriptine Approved, Investigational Phase 1, Phase 2 25614-03-3 31101
7 Anti-Infective Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Immunologic Factors Phase 2
10 Antiviral Agents Phase 2
11 Antimetabolites Phase 2
12 Dopamine Agents Phase 1, Phase 2
13 Neurotransmitter Agents Phase 1, Phase 2
14 Dopamine agonists Phase 1, Phase 2
15 Antiparkinson Agents Phase 1, Phase 2
16
Borage oil Approved, Investigational
17
Calcium polycarbophil Approved 126040-58-2
18 Antirheumatic Agents
19 Soy Bean
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 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
5 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
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 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
10 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

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 171)
# Title Authors PMID Year
1
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. 6 57 61
25537362 2015
2
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 61 6 57
25612909 2015
3
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. 61 6
28495245 2017
4
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. 61 6
26147564 2015
5
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 61 57
22167768 2012
6
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 57 61
19261599 2009
7
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. 61 57
3278614 1988
8
Fetal akinesia deformation sequence in previable fetuses. 57 61
3344777 1988
9
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature. 61 57
3053754 1988
10
The heterogeneity of the Pena-Shokeir syndrome. 57 61
3561707 1987
11
Fetal akinesia deformation sequence: an animal model. 61 57
6685864 1983
12
The genomic and clinical landscape of fetal akinesia. 6
31680123 2020
13
Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome. 6
30429133 2018
14
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. 6
30266223 2018
15
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. 6
29704306 2018
16
Molecular autopsy in maternal-fetal medicine. 6
28749478 2018
17
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. 6
29395675 2018
18
Molecular characterization of congenital myasthenic syndromes in Spain. 6
29054425 2017
19
DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency. 6
28716243 2017
20
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. 6
29118959 2017
21
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 6
27974811 2017
22
Late presentations of congenital myasthenic syndromes: How many do we miss? 6
26910802 2016
23
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. 6
27214504 2016
24
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
25
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. 6
26927095 2016
26
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. 6
25900532 2015
27
Two cases of congenital myasthenic syndrome with vocal cord paralysis. 6
25695962 2015
28
Molecular findings among patients referred for clinical whole-exome sequencing. 6
25326635 2014
29
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 6
25194721 2014
30
Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 6
25237101 2014
31
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 6
24319099 2014
32
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. 6
24122059 2013
33
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. 6
23790237 2013
34
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. 6
23219351 2013
35
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. 6
23326516 2013
36
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 6
22661499 2012
37
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. 6
22326364 2012
38
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 6
21850686 2011
39
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
40
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 6
21305573 2011
41
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
42
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. 6
20930056 2010
43
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. 6
20554332 2010
44
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 6
20157724 2010
45
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 6
20012313 2010
46
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. 6
20458068 2010
47
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. 6
19837590 2009
48
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 6
19620612 2009
49
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 6
18626973 2008
50
Variable phenotypes associated with mutations in DOK7. 6
18161030 2008

Variations for Fetal Akinesia Deformation Sequence 1

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 1:

6 (show top 50) (show all 732)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAPSN NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) SNV Pathogenic 939708 GRCh37: 11:47469537-47469537
GRCh38: 11:47447985-47447985
2 MUSK NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter) SNV Pathogenic 947675 GRCh37: 9:113547955-113547955
GRCh38: 9:110785675-110785675
3 RAPSN NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) SNV Pathogenic 947985 GRCh37: 11:47460384-47460384
GRCh38: 11:47438833-47438833
4 RAPSN NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) SNV Pathogenic 8056 rs121909255 GRCh37: 11:47469411-47469411
GRCh38: 11:47447859-47447859
5 RAPSN NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) Deletion Pathogenic 632161 rs765096923 GRCh37: 11:47460404-47460420
GRCh38: 11:47438853-47438869
6 MUSK NM_005592.4(MUSK):c.1626del (p.Glu542fs) Deletion Pathogenic 963084 GRCh37: 9:113547846-113547846
GRCh38: 9:110785566-110785566
7 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) SNV Pathogenic 802677 rs1595903667 GRCh37: 11:47470456-47470456
GRCh38: 11:47448904-47448904
8 RAPSN NC_000011.10:g.(?_47437965)_(47438941_?)del Deletion Pathogenic 832988 GRCh37: 11:47459516-47460492
GRCh38:
9 DOK7 NC_000004.12:g.(?_3485529)_(3485668_?)del Deletion Pathogenic 832528 GRCh37: 4:3487256-3487395
GRCh38:
10 RAPSN NC_000011.10:g.(?_47447802)_(47449175_?)del Deletion Pathogenic 832215 GRCh37: 11:47469354-47470727
GRCh38:
11 DOK7 NC_000004.12:g.(?_3463366)_(3493511_?)del Deletion Pathogenic 831089 GRCh37: 4:3465093-3495238
GRCh38:
12 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) SNV Pathogenic 802677 rs1595903667 GRCh37: 11:47470456-47470456
GRCh38: 11:47448904-47448904
13 RAPSN NM_005055.5(RAPSN):c.493G>A (p.Val165Met) SNV Pathogenic 856323 GRCh37: 11:47469402-47469402
GRCh38: 11:47447850-47447850
14 RAPSN NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) SNV Pathogenic 664620 rs201947904 GRCh37: 11:47460452-47460452
GRCh38: 11:47438901-47438901
15 RAPSN NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) SNV Pathogenic 476126 rs1555142603 GRCh37: 11:47463222-47463222
GRCh38: 11:47441670-47441670
16 RAPSN NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) SNV Pathogenic 476121 rs1479498379 GRCh37: 11:47469525-47469525
GRCh38: 11:47447973-47447973
17 MUSK NM_005592.4(MUSK):c.40dup (p.Thr14fs) Duplication Pathogenic 190466 rs863223335 GRCh37: 9:113431223-113431224
GRCh38: 9:110668943-110668944
18 RAPSN NM_005055.5(RAPSN):c.1116_1118GAA[1] (p.Lys373del) Microsatellite Pathogenic 847394 GRCh37: 11:47460328-47460330
GRCh38: 11:47438777-47438779
19 RAPSN NM_005055.5(RAPSN):c.11dup (p.Asp4fs) Duplication Pathogenic 952498 GRCh37: 11:47470505-47470506
GRCh38: 11:47448953-47448954
20 MUSK NC_000009.12:g.(?_110734231)_(110734395_?)del Deletion Pathogenic 476127 GRCh37:
GRCh38: 9:110734231-110734395
21 DOK7 NC_000004.12:g.(?_3473386)_(3489816_?)del Deletion Pathogenic 465668 GRCh37: 4:3475113-3491543
GRCh38: 4:3473386-3489816
22 DOK7 NC_000004.12:g.(?_3485519)_(3493521_?)del Deletion Pathogenic 465669 GRCh37: 4:3487246-3495248
GRCh38: 4:3485519-3493521
23 RAPSN NC_000011.10:g.(?_47437955)_(47438951_?)del Deletion Pathogenic 542739 GRCh37: 11:47459506-47460502
GRCh38: 11:47437955-47438951
24 MUSK NC_000009.12:g.(?_110668885)_(110801008_?)del Deletion Pathogenic 583579 GRCh37: 9:113431165-113563288
GRCh38: 9:110668885-110801008
25 DOK7 NC_000004.12:g.(?_3485529)_(3493511_?)del Deletion Pathogenic 644832 GRCh37: 4:3487256-3495238
GRCh38: 4:3485529-3493511
26 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs) Microsatellite Pathogenic 1276 rs606231131 GRCh37: 4:3495043-3495044
GRCh38: 4:3493316-3493317
27 RAPSN NG_008312.1(RAPSN):g.5005A>G SNV Pathogenic 8051 rs786200905 GRCh37: 11:47470726-47470726
GRCh38: 11:47449174-47449174
28 DOK7 NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) SNV Pathogenic 560992 rs768892432 GRCh37: 4:3478251-3478251
GRCh38: 4:3476524-3476524
29 DOK7 NM_173660.5(DOK7):c.743_744TC[4] (p.His250fs) Microsatellite Pathogenic 583395 rs1560224831 GRCh37: 4:3491492-3491493
GRCh38: 4:3489765-3489766
30 DOK7 NM_173660.5(DOK7):c.28del (p.Gln10fs) Deletion Pathogenic 654355 rs1560200925 GRCh37: 4:3465129-3465129
GRCh38: 4:3463402-3463402
31 DOK7 NM_173660.5(DOK7):c.1143del (p.Glu382fs) Deletion Pathogenic 802049 rs606231132 GRCh37: 4:3494852-3494852
GRCh38: 4:3493125-3493125
32 DOK7 NM_173660.5(DOK7):c.810_811del (p.His272fs) Deletion Pathogenic 841000 GRCh37: 4:3494523-3494524
GRCh38: 4:3492796-3492797
33 DOK7 NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) SNV Pathogenic 853396 GRCh37: 4:3478194-3478194
GRCh38: 4:3476467-3476467
34 DOK7 NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) Duplication Pathogenic 854520 GRCh37: 4:3495120-3495121
GRCh38: 4:3493393-3493394
35 MUSK NM_005592.4(MUSK):c.79+2T>G SNV Pathogenic 211542 rs200783529 GRCh37: 9:113431265-113431265
GRCh38: 9:110668985-110668985
36 DOK7 NM_173660.5(DOK7):c.925del (p.Glu309fs) Deletion Pathogenic 934350 GRCh37: 4:3494635-3494635
GRCh38: 4:3492908-3492908
37 DOK7 NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) SNV Pathogenic 950584 GRCh37: 4:3478217-3478217
GRCh38: 4:3476490-3476490
38 ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) SNV Pathogenic 692271 rs1057521117 GRCh37: 1:229567810-229567810
GRCh38: 1:229432063-229432063
39 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 GRCh37: 10:73921295-73921295
GRCh38: 10:72161537-72161537
40 CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) SNV Pathogenic 692274 rs1597802927 GRCh37: 17:40835840-40835840
GRCh38: 17:42683822-42683822
41 PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter) SNV Pathogenic 632546 rs1568069621 GRCh37: 18:10797515-10797515
GRCh38: 18:10797517-10797517
42 RAPSN NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) SNV Pathogenic 497298 rs375218091 GRCh37: 11:47469623-47469623
GRCh38: 11:47448071-47448071
43 RYR1 NM_000540.3(RYR1):c.14647-15_14649del Deletion Pathogenic 692285 rs1599673988 GRCh37: 19:39075562-39075579
GRCh38: 19:38584922-38584939
44 RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) Duplication Pathogenic 692286 rs1568454672 GRCh37: 19:38951153-38951154
GRCh38: 19:38460513-38460514
45 RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs) Deletion Pathogenic 692288 rs1600783776 GRCh37: 19:38979887-38979887
GRCh38: 19:38489247-38489247
46 ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs) Deletion Pathogenic 692295 rs769542442 GRCh37: 14:105207522-105207522
GRCh38: 14:104741185-104741185
47 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 GRCh37: 10:73921295-73921295
GRCh38: 10:72161537-72161537
48 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs) Duplication Pathogenic 209149 rs761899995 GRCh37: 4:3494846-3494847
GRCh38: 4:3493119-3493120
49 DOK7 NM_173660.5(DOK7):c.513C>T (p.Gly171=) SNV Pathogenic 429791 rs775583136 GRCh37: 4:3478250-3478250
GRCh38: 4:3476523-3476523
50 ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) SNV Pathogenic 692298 rs774338373 GRCh37: 1:197097693-197097693
GRCh38: 1:197128563-197128563

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

72
# 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....