FADS1
MCID: FTL069
MIFTS: 47

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 58
Fetal Akinesia Deformation Sequence 58 54 76 38 13
Fetal Akinesia Sequence 58 54 76 30 6
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 58 54 76
Fads 58 54 76
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 77 54
Pena-Shokeir Syndrome Type I 30 6
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 54
Fetal Akinesia Deformation Sequence; Fads 58
Akinesia, Fetal, Deformation Sequence 41
Pena-Shokeir Syndrome, Type I 58
Pena-Shokeir Syndrome, Type 1 54
Pena-Shokeir Syndrome Type 1 76
Fads1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
fetal akinesia deformation sequence 1:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fetal Akinesia Deformation Sequence 1

NIH Rare Diseases : 54 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 lissencephaly type 3-familial fetal akinesia sequence syndrome. An important gene associated with Fetal Akinesia Deformation Sequence 1 is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways is Agrin Interactions at Neuromuscular Junction. Affiliated tissues include lung, bone and placenta, and related phenotypes are respiratory insufficiency and micrognathia

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 Fetal akinesia deformation sequence: 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.

Wikipedia : 77 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 119)
# Related Disease Score Top Affiliating Genes
1 fetal akinesia deformation sequence 4 12.7
2 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.4
3 early-onset, autosomal dominant alzheimer disease 11.5
4 multiple acyl-coa dehydrogenase deficiency 11.4
5 restrictive dermopathy, lethal 11.2
6 diabetes mellitus, noninsulin-dependent 11.2
7 body mass index quantitative trait locus 11 11.2
8 lung mucoepidermoid carcinoma 11.2
9 lipid metabolism disorder 11.2
10 best vitelliform macular dystrophy 11.2
11 retinitis pigmentosa 11.1
12 fetal akinesia deformation sequence 2 10.7
13 neutrophil actin dysfunction 10.4
14 alzheimer disease 10.3
15 distal arthrogryposis 10.2
16 dermatitis 10.2
17 oral cancer 10.2
18 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 10.1
19 glycogen storage disease iv 10.1
20 multiple pterygium syndrome, lethal type 10.1
21 myasthenic syndrome, congenital, 10 10.1
22 myopathy, congenital 10.1
23 multiple pterygium syndrome, escobar variant 10.1
24 congenital disorder of glycosylation, type in 10.1
25 glycogen storage disease 10.1
26 oligohydramnios 10.1
27 neuroaxonal dystrophy 10.1
28 myopathy 10.1
29 hydranencephaly 10.1
30 polymicrogyria 10.1
31 tubulinopathies 10.1
32 glycogen storage disease due to glycogen branching enzyme deficiency 10.1
33 microlissencephaly 10.1
34 polycythemia vera 10.0
35 arteries, anomalies of 10.0
36 fetal akinesia deformation sequence 3 10.0
37 bipolar disorder 10.0
38 coronary artery anomaly 10.0
39 gestational diabetes 10.0
40 squamous cell carcinoma 10.0
41 lissencephaly 10.0
42 cystic lymphangioma 10.0
43 nemaline myopathy 10.0
44 fetal edema 10.0
45 choroideremia 9.9
46 riboflavin deficiency 9.9
47 degos 'en cocarde' erythrokeratoderma 9.9
48 paraneoplastic syndromes 9.9
49 aplasia cutis congenita, nonsyndromic 9.8
50 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
telecanthus
short palpebral fissures
prominent eyes

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

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

Growth Other:
intrauterine growth retardation
small for gestational age

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Prenatal Manifestations Delivery:
premature birth
stillborn (30%)

Head And Neck Nose:
depressed nasal tip

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
rocker-bottom feet
ankle ankylosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.8 MUSK RAPSN TUBB2B

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 DOK7 MUSK RAPSN TUBB2B
2 muscle MP:0005369 9.33 DOK7 MUSK RAPSN
3 nervous system MP:0003631 9.26 DOK7 MUSK RAPSN TUBB2B
4 respiratory system MP:0005388 8.92 DOK7 MUSK RAPSN TUBB2B

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 1

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence 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 30 MUSK
2 Fetal Akinesia Sequence 30

Anatomical Context for Fetal Akinesia Deformation Sequence 1

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

42
Lung, Bone, Placenta, Eye, Skeletal Muscle, Brain, Thyroid

Publications for Fetal Akinesia Deformation Sequence 1

Articles related to Fetal Akinesia Deformation Sequence 1:

(show all 42)
# Title Authors Year
1
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. ( 30303820 )
2019
2
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. ( 31059209 )
2019
3
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita and bilateral clubfeet, is motor assessment of additional value for in utero diagnosis? A ten year cohort study. ( 30578734 )
2018
4
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. ( 30543681 )
2018
5
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ( 28495245 )
2017
6
Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). ( 28784231 )
2017
7
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
8
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. ( 26825730 )
2016
9
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. ( 27762439 )
2016
10
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ( 25537362 )
2015
11
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). ( 25612909 )
2015
12
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
13
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. ( 25045026 )
2014
14
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. ( 22765395 )
2013
15
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
16
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
17
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. ( 19968489 )
2010
18
Fetal akinesia deformation sequence. Case report. ( 20212403 )
2010
19
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
20
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ( 19645055 )
2009
21
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). ( 19944545 )
2009
22
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ( 18252226 )
2008
23
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. ( 18626973 )
2008
24
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. ( 17130047 )
2006
25
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. ( 16147849 )
2005
26
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. ( 15192292 )
2004
27
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. ( 12795555 )
2003
28
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. ( 11857548 )
2002
29
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. ( 11810649 )
2002
30
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. ( 12400062 )
2002
31
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. ( 11555456 )
2001
32
Fetal akinesia deformation sequence in a highly developed acardius twin. ( 9354846 )
1997
33
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. ( 7484094 )
1995
34
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). ( 8597848 )
1995
35
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. ( 1615431 )
1992
36
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. ( 1723604 )
1991
37
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. ( 1951430 )
1991
38
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. ( 1891100 )
1991
39
The fetal akinesia deformation sequence. A fetopathological approach. ( 2222918 )
1990
40
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. ( 3278614 )
1988
41
Fetal akinesia deformation sequence in previable fetuses. ( 3344777 )
1988
42
Fetal akinesia deformation sequence: an animal model. ( 6685864 )
1983

Variations for Fetal Akinesia Deformation Sequence 1

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

76
# Symbol AA change Variation ID SNP ID
1 MUSK p.Ile575Thr VAR_072787 rs751889864
2 RAPSN p.Phe139Ser VAR_043899 rs121909256
3 RAPSN p.Ala189Val VAR_043902 rs121909257
4 TUBB2B p.Cys239Phe VAR_078187 rs878853284

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 1:

6 (show top 50) (show all 497)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh38 Chromosome 4, 3493110: 3493113
2 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh37 Chromosome 4, 3494837: 3494840
3 DOK7 NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs) duplication Pathogenic rs606231129 GRCh38 Chromosome 4, 3493249: 3493249
4 DOK7 NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs) duplication Pathogenic rs606231129 GRCh37 Chromosome 4, 3494976: 3494976
5 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh38 Chromosome 4, 3493325: 3493328
6 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh37 Chromosome 4, 3495052: 3495055
7 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh37 Chromosome 11, 47469631: 47469631
8 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh38 Chromosome 11, 47448079: 47448079
9 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
10 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh37 Chromosome 11, 47470726: 47470726
11 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Likely pathogenic rs121909254 GRCh37 Chromosome 11, 47470384: 47470384
12 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Likely pathogenic rs121909254 GRCh38 Chromosome 11, 47448832: 47448832
13 MUSK NM_005592.3(MUSK): c.2368G> A (p.Val790Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199476083 GRCh37 Chromosome 9, 113563026: 113563026
14 MUSK NM_005592.3(MUSK): c.2368G> A (p.Val790Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199476083 GRCh38 Chromosome 9, 110800746: 110800746
15 DOK7 NM_173660.4(DOK7): c.1143C> T (p.Pro381=) single nucleotide variant Benign rs56769879 GRCh37 Chromosome 4, 3494856: 3494856
16 DOK7 NM_173660.4(DOK7): c.1143C> T (p.Pro381=) single nucleotide variant Benign rs56769879 GRCh38 Chromosome 4, 3493129: 3493129
17 DOK7 NM_173660.4(DOK7): c.1317C> T (p.Ser439=) single nucleotide variant Benign rs16844467 GRCh37 Chromosome 4, 3495030: 3495030
18 DOK7 NM_173660.4(DOK7): c.1317C> T (p.Ser439=) single nucleotide variant Benign rs16844467 GRCh38 Chromosome 4, 3493303: 3493303
19 DOK7 NM_173660.4(DOK7): c.1351C> T (p.Arg451Trp) single nucleotide variant Benign rs16844470 GRCh37 Chromosome 4, 3495064: 3495064
20 DOK7 NM_173660.4(DOK7): c.1351C> T (p.Arg451Trp) single nucleotide variant Benign rs16844470 GRCh38 Chromosome 4, 3493337: 3493337
21 DOK7 NM_173660.4(DOK7): c.332-4G> A single nucleotide variant Benign rs199578351 GRCh37 Chromosome 4, 3478065: 3478065
22 DOK7 NM_173660.4(DOK7): c.332-4G> A single nucleotide variant Benign rs199578351 GRCh38 Chromosome 4, 3476338: 3476338
23 DOK7 NM_173660.4(DOK7): c.589G> A (p.Asp197Asn) single nucleotide variant Benign rs16844422 GRCh37 Chromosome 4, 3487322: 3487322
24 DOK7 NM_173660.4(DOK7): c.589G> A (p.Asp197Asn) single nucleotide variant Benign rs16844422 GRCh38 Chromosome 4, 3485595: 3485595
25 DOK7 NM_173660.4(DOK7): c.782G> A (p.Arg261His) single nucleotide variant Benign rs16844460 GRCh37 Chromosome 4, 3494495: 3494495
26 DOK7 NM_173660.4(DOK7): c.782G> A (p.Arg261His) single nucleotide variant Benign rs16844460 GRCh38 Chromosome 4, 3492768: 3492768
27 DOK7 NM_173660.4(DOK7): c.967C> T (p.Arg323Cys) single nucleotide variant Benign rs150728781 GRCh37 Chromosome 4, 3494680: 3494680
28 DOK7 NM_173660.4(DOK7): c.967C> T (p.Arg323Cys) single nucleotide variant Benign rs150728781 GRCh38 Chromosome 4, 3492953: 3492953
29 MUSK NM_005592.3(MUSK): c.2202C> T (p.Gly734=) single nucleotide variant Conflicting interpretations of pathogenicity rs143701488 GRCh37 Chromosome 9, 113562860: 113562860
30 MUSK NM_005592.3(MUSK): c.2202C> T (p.Gly734=) single nucleotide variant Conflicting interpretations of pathogenicity rs143701488 GRCh38 Chromosome 9, 110800580: 110800580
31 MUSK NM_005592.3(MUSK): c.225C> T (p.Tyr75=) single nucleotide variant Benign/Likely benign rs56130155 GRCh37 Chromosome 9, 113449415: 113449415
32 MUSK NM_005592.3(MUSK): c.225C> T (p.Tyr75=) single nucleotide variant Benign/Likely benign rs56130155 GRCh38 Chromosome 9, 110687135: 110687135
33 MUSK NM_005592.3(MUSK): c.2485G> T (p.Val829Leu) single nucleotide variant Benign rs578430 GRCh37 Chromosome 9, 113563143: 113563143
34 MUSK NM_005592.3(MUSK): c.2485G> T (p.Val829Leu) single nucleotide variant Benign rs578430 GRCh38 Chromosome 9, 110800863: 110800863
35 MUSK NM_005592.3(MUSK): c.299C> T (p.Thr100Met) single nucleotide variant Benign/Likely benign rs35142681 GRCh37 Chromosome 9, 113449489: 113449489
36 MUSK NM_005592.3(MUSK): c.299C> T (p.Thr100Met) single nucleotide variant Benign/Likely benign rs35142681 GRCh38 Chromosome 9, 110687209: 110687209
37 RAPSN NM_005055.4(RAPSN): c.1143T> C (p.Pro381=) single nucleotide variant Benign rs7126210 GRCh37 Chromosome 11, 47460306: 47460306
38 RAPSN NM_005055.4(RAPSN): c.1143T> C (p.Pro381=) single nucleotide variant Benign rs7126210 GRCh38 Chromosome 11, 47438755: 47438755
39 RAPSN NM_005055.4(RAPSN): c.172C> T (p.Arg58Cys) single nucleotide variant Benign/Likely benign rs34312154 GRCh37 Chromosome 11, 47470345: 47470345
40 RAPSN NM_005055.4(RAPSN): c.172C> T (p.Arg58Cys) single nucleotide variant Benign/Likely benign rs34312154 GRCh38 Chromosome 11, 47448793: 47448793
41 RAPSN NM_005055.4(RAPSN): c.456T> C (p.Tyr152=) single nucleotide variant Benign rs7111873 GRCh37 Chromosome 11, 47469439: 47469439
42 RAPSN NM_005055.4(RAPSN): c.456T> C (p.Tyr152=) single nucleotide variant Benign rs7111873 GRCh38 Chromosome 11, 47447887: 47447887
43 RAPSN NM_005055.4(RAPSN): c.855G> A (p.Gln285=) single nucleotide variant Benign/Likely benign rs45603036 GRCh37 Chromosome 11, 47463220: 47463220
44 RAPSN NM_005055.4(RAPSN): c.855G> A (p.Gln285=) single nucleotide variant Benign/Likely benign rs45603036 GRCh38 Chromosome 11, 47441668: 47441668
45 FBN2 NM_001999.3(FBN2): c.1064G> A (p.Gly355Asp) single nucleotide variant Likely pathogenic rs730882230 GRCh38 Chromosome 5, 128408688: 128408688
46 FBN2 NM_001999.3(FBN2): c.1064G> A (p.Gly355Asp) single nucleotide variant Likely pathogenic rs730882230 GRCh37 Chromosome 5, 127744381: 127744381
47 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh37 Chromosome 9, 113431224: 113431224
48 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh38 Chromosome 9, 110668944: 110668944
49 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Likely pathogenic rs751889864 GRCh38 Chromosome 9, 110785664: 110785664
50 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Likely pathogenic rs751889864 GRCh37 Chromosome 9, 113547944: 113547944

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 10.38 MUSK RAPSN

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 9.33 DOK7 MUSK RAPSN
2 postsynaptic membrane GO:0045211 9.26 MUSK RAPSN
3 neuromuscular junction GO:0031594 8.96 MUSK RAPSN
4 synapse GO:0045202 8.8 DOK7 MUSK RAPSN

Sources for Fetal Akinesia Deformation Sequence 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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