FADS
MCID: FTL009
MIFTS: 56

Fetal Akinesia Deformation Sequence (FADS)

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

Aliases & Classifications for Fetal Akinesia Deformation Sequence

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 57 53 75 37 13
Fetal Akinesia Sequence 57 53 75 29 6
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 57 53 75
Pena-Shokeir Syndrome Type I 29 6 73
Fads 57 53 75
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 76 53
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 53
Akinesia, Fetal, Deformation Sequence 40
Pena-Shokeir Syndrome, Type I 57
Pena-Shokeir Syndrome, Type 1 53
Pena-Shokeir Syndrome Type 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fetal akinesia deformation sequence:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fetal Akinesia Deformation Sequence

NIH Rare Diseases : 53 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, also known as fetal akinesia sequence, is related to multiple pterygium syndrome, escobar variant and oligohydramnios. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include lung, bone and placenta, and related phenotypes are hypertelorism and short neck

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Fetal Akinesia Deformation Sequence

Diseases related to Fetal Akinesia Deformation Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 29.8 CHRNA1 CHRND CHRNG
2 oligohydramnios 29.8 CHRNA1 CHRND CHRNG
3 cystic lymphangioma 29.7 CHRND CHRNG DOK7
4 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.4
5 early-onset, autosomal dominant alzheimer disease 11.4
6 multiple acyl-coa dehydrogenase deficiency 11.4
7 restrictive dermopathy, lethal 11.3
8 neutrophil actin dysfunction 10.2
9 alzheimer disease 10.1
10 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 10.1
11 glycogen storage disease iv 10.1
12 myopathy, congenital 10.1
13 congenital disorder of glycosylation, type in 10.1
14 glycogen storage disease 10.1
15 distal arthrogryposis 10.1
16 neuroaxonal dystrophy 10.1
17 myopathy 10.1
18 hydranencephaly 10.1
19 polymicrogyria 10.1
20 glycogen storage disease due to glycogen branching enzyme deficiency 10.1
21 microlissencephaly 10.1
22 arteries, anomalies of 10.0
23 polycythemia vera 10.0
24 coronary artery anomaly 10.0
25 lissencephaly 10.0
26 nemaline myopathy 10.0
27 fetal edema 10.0
28 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.0 DOK7 MUSK
29 sclerosteosis 2 10.0 DOK7 MUSK RAPSN
30 cenani-lenz syndactyly syndrome 10.0 DOK7 MUSK RAPSN
31 slow-channel congenital myasthenic syndrome 10.0 CHRNA1 CHRND
32 choroideremia 9.9
33 riboflavin deficiency 9.9
34 paraneoplastic syndromes 9.9
35 peripheral nervous system disease 9.9 DOK7 MUSK RAPSN
36 neonatal myasthenia gravis 9.9 CHRNG MUSK
37 diabetes mellitus, noninsulin-dependent 9.8
38 otitis media 9.8
39 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.8
40 autism 9.8
41 celiac disease 1 9.8
42 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.8
43 l-2-hydroxyglutaric aciduria 9.8
44 granulomatous disease, chronic, x-linked 9.8
45 maturity-onset diabetes of the young 9.8
46 congenital methemoglobinemia 9.8
47 cataract 9.8
48 chronic granulomatous disease 9.8
49 diabetes mellitus 9.8
50 dilated cardiomyopathy 9.8

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



Diseases related to Fetal Akinesia Deformation Sequence

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fetal Akinesia Deformation Sequence:

32 (show top 50) (show all 53)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 short neck 32 HP:0000470
3 high palate 32 HP:0000218
4 hydrocephalus 32 HP:0000238
5 ptosis 32 HP:0000508
6 respiratory insufficiency 32 hallmark (90%) HP:0002093
7 scoliosis 32 frequent (33%) HP:0002650
8 depressed nasal bridge 32 frequent (33%) HP:0005280
9 cleft palate 32 frequent (33%) HP:0000175
10 long philtrum 32 HP:0000343
11 micrognathia 32 hallmark (90%) HP:0000347
12 cryptorchidism 32 frequent (33%) HP:0000028
13 intrauterine growth retardation 32 hallmark (90%) HP:0001511
14 high, narrow palate 32 HP:0002705
15 cystic hygroma 32 frequent (33%) HP:0000476
16 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
17 talipes equinovarus 32 HP:0001762
18 fetal akinesia sequence 32 hallmark (90%) HP:0001989
19 telecanthus 32 HP:0000506
20 cerebellar hypoplasia 32 HP:0001321
21 thin ribs 32 HP:0000883
22 narrow mouth 32 HP:0000160
23 polyhydramnios 32 frequent (33%) HP:0001561
24 blepharophimosis 32 HP:0000581
25 abnormality of pelvic girdle bone morphology 32 HP:0002644
26 proptosis 32 HP:0000520
27 absent septum pellucidum 32 HP:0001331
28 camptodactyly of finger 32 hallmark (90%) HP:0100490
29 dandy-walker malformation 32 occasional (7.5%) HP:0001305
30 hypokinesia 32 hallmark (90%) HP:0002375
31 premature birth 32 HP:0001622
32 pulmonary hypoplasia 32 hallmark (90%) HP:0002089
33 pterygium 32 occasional (7.5%) HP:0001059
34 depressed nasal tip 32 HP:0000437
35 multiple joint contractures 32 hallmark (90%) HP:0002828
36 generalized amyotrophy 32 frequent (33%) HP:0003700
37 thoracic hypoplasia 32 HP:0005257
38 absent palmar crease 32 hallmark (90%) HP:0010489
39 rocker bottom foot 32 HP:0001838
40 intestinal hypoplasia 32 occasional (7.5%) HP:0005245
41 short palpebral fissure 32 HP:0012745
42 excessive daytime somnolence 32 hallmark (90%) HP:0001262
43 slender long bone 32 HP:0003100
44 posteriorly rotated ears 32 frequent (33%) HP:0000358
45 small for gestational age 32 HP:0001518
46 elbow ankylosis 32 HP:0003070
47 short umbilical cord 32 HP:0001196
48 small placenta 32 HP:0006266
49 akinesia 32 hallmark (90%) HP:0002304
50 cavum septum pellucidum 32 HP:0002389

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 CHRNA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 MUSK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.72 CHRNA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 MUSK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 CHRNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 CHRNA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.72 CHRNG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 CHRNG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.72 MUSK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.72 MUSK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 CHRNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 CHRNA1 CHRNG MUSK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.72 CHRNA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 CHRNA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 CHRNA1 MUSK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 CHRNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 CHRNA1 MUSK
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 MUSK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 MUSK
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 CHRNA1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 8.96 CHRNA1 RAPSN

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.86 CHRNA1 CHRNG DOK7 KLHL40 MUSK PDHA1
2 muscle MP:0005369 9.63 CHRNG DOK7 KLHL40 MUSK PDHA1 RAPSN
3 nervous system MP:0003631 9.5 CHRNA1 CHRNG DOK7 MUSK PDHA1 RAPSN
4 respiratory system MP:0005388 9.02 CHRNG DOK7 MUSK RAPSN TUBB2B

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence

Genetic Tests for Fetal Akinesia Deformation Sequence

Genetic tests related to Fetal Akinesia Deformation Sequence:

# Genetic test Affiliating Genes
1 Pena-Shokeir Syndrome Type I 29 DOK7 MUSK RAPSN
2 Fetal Akinesia Sequence 29

Anatomical Context for Fetal Akinesia Deformation Sequence

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

41
Lung, Bone, Placenta, Eye, Skeletal Muscle, Brain, Thyroid

Publications for Fetal Akinesia Deformation Sequence

Articles related to Fetal Akinesia Deformation Sequence:

(show all 41)
# 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
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. ( 30543681 )
2018
3
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ( 28495245 )
2017
4
Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). ( 28784231 )
2017
5
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
6
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
7
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. ( 26825730 )
2016
8
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
9
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). ( 25612909 )
2015
10
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ( 25537362 )
2014
11
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. ( 25045026 )
2014
12
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. ( 22765395 )
2013
13
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
14
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. ( 19968489 )
2010
15
Fetal akinesia deformation sequence. Case report. ( 20212403 )
2010
16
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
17
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
18
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). ( 19944545 )
2009
19
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ( 19645055 )
2009
20
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ( 18252226 )
2008
21
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. ( 17130047 )
2006
22
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. ( 16147849 )
2005
23
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. ( 15192292 )
2004
24
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. ( 12795555 )
2003
25
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. ( 11857548 )
2002
26
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. ( 12400062 )
2002
27
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. ( 11810649 )
2002
28
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. ( 11555456 )
2001
29
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. ( 11332983 )
2001
30
Fetal akinesia deformation sequence in a highly developed acardius twin. ( 9354846 )
1997
31
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. ( 7484094 )
1995
32
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). ( 8597848 )
1995
33
Fetal akinesia sequence caused by glycogenosis type VII. ( 7794557 )
1995
34
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. ( 1615431 )
1992
35
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. ( 1951430 )
1991
36
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. ( 1723604 )
1991
37
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. ( 1891100 )
1991
38
The fetal akinesia deformation sequence. A fetopathological approach. ( 2222918 )
1990
39
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. ( 3278614 )
1988
40
Fetal akinesia deformation sequence in previable fetuses. ( 3344777 )
1988
41
Fetal akinesia deformation sequence: an animal model. ( 6685864 )
1983

Variations for Fetal Akinesia Deformation Sequence

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

75
# 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:

6 (show top 50) (show all 503)
# 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 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
8 RAPSN NM_005055.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh37 Chromosome 11, 47469631: 47469631
9 RAPSN NM_005055.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh38 Chromosome 11, 47448079: 47448079
10 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
11 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh37 Chromosome 11, 47470726: 47470726
12 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Likely pathogenic rs121909254 GRCh37 Chromosome 11, 47470384: 47470384
13 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Likely pathogenic rs121909254 GRCh38 Chromosome 11, 47448832: 47448832
14 RAPSN RAPSN, 2-BP DEL, 1177AA deletion Pathogenic
15 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh37 Chromosome 11, 47469479: 47469479
16 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh38 Chromosome 11, 47447927: 47447927
17 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh37 Chromosome 11, 47464332: 47464332
18 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh38 Chromosome 11, 47442780: 47442780
19 MUSK NM_005592.3(MUSK): c.2368G> A (p.Val790Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199476083 GRCh37 Chromosome 9, 113563026: 113563026
20 MUSK NM_005592.3(MUSK): c.2368G> A (p.Val790Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199476083 GRCh38 Chromosome 9, 110800746: 110800746
21 DOK7 NM_173660.4(DOK7): c.1143C> T (p.Pro381=) single nucleotide variant Benign rs56769879 GRCh37 Chromosome 4, 3494856: 3494856
22 DOK7 NM_173660.4(DOK7): c.1143C> T (p.Pro381=) single nucleotide variant Benign rs56769879 GRCh38 Chromosome 4, 3493129: 3493129
23 DOK7 NM_173660.4(DOK7): c.1317C> T (p.Ser439=) single nucleotide variant Benign rs16844467 GRCh37 Chromosome 4, 3495030: 3495030
24 DOK7 NM_173660.4(DOK7): c.1317C> T (p.Ser439=) single nucleotide variant Benign rs16844467 GRCh38 Chromosome 4, 3493303: 3493303
25 DOK7 NM_173660.4(DOK7): c.1351C> T (p.Arg451Trp) single nucleotide variant Benign rs16844470 GRCh37 Chromosome 4, 3495064: 3495064
26 DOK7 NM_173660.4(DOK7): c.1351C> T (p.Arg451Trp) single nucleotide variant Benign rs16844470 GRCh38 Chromosome 4, 3493337: 3493337
27 DOK7 NM_173660.4(DOK7): c.332-4G> A single nucleotide variant Benign rs199578351 GRCh37 Chromosome 4, 3478065: 3478065
28 DOK7 NM_173660.4(DOK7): c.332-4G> A single nucleotide variant Benign rs199578351 GRCh38 Chromosome 4, 3476338: 3476338
29 DOK7 NM_173660.4(DOK7): c.589G> A (p.Asp197Asn) single nucleotide variant Benign rs16844422 GRCh37 Chromosome 4, 3487322: 3487322
30 DOK7 NM_173660.4(DOK7): c.589G> A (p.Asp197Asn) single nucleotide variant Benign rs16844422 GRCh38 Chromosome 4, 3485595: 3485595
31 DOK7 NM_173660.4(DOK7): c.782G> A (p.Arg261His) single nucleotide variant Benign rs16844460 GRCh37 Chromosome 4, 3494495: 3494495
32 DOK7 NM_173660.4(DOK7): c.782G> A (p.Arg261His) single nucleotide variant Benign rs16844460 GRCh38 Chromosome 4, 3492768: 3492768
33 DOK7 NM_173660.4(DOK7): c.967C> T (p.Arg323Cys) single nucleotide variant Benign rs150728781 GRCh37 Chromosome 4, 3494680: 3494680
34 DOK7 NM_173660.4(DOK7): c.967C> T (p.Arg323Cys) single nucleotide variant Benign rs150728781 GRCh38 Chromosome 4, 3492953: 3492953
35 MUSK NM_005592.3(MUSK): c.2202C> T (p.Gly734=) single nucleotide variant Conflicting interpretations of pathogenicity rs143701488 GRCh37 Chromosome 9, 113562860: 113562860
36 MUSK NM_005592.3(MUSK): c.2202C> T (p.Gly734=) single nucleotide variant Conflicting interpretations of pathogenicity rs143701488 GRCh38 Chromosome 9, 110800580: 110800580
37 MUSK NM_005592.3(MUSK): c.225C> T (p.Tyr75=) single nucleotide variant Benign/Likely benign rs56130155 GRCh37 Chromosome 9, 113449415: 113449415
38 MUSK NM_005592.3(MUSK): c.225C> T (p.Tyr75=) single nucleotide variant Benign/Likely benign rs56130155 GRCh38 Chromosome 9, 110687135: 110687135
39 MUSK NM_005592.3(MUSK): c.2485G> T (p.Val829Leu) single nucleotide variant Benign rs578430 GRCh37 Chromosome 9, 113563143: 113563143
40 MUSK NM_005592.3(MUSK): c.2485G> T (p.Val829Leu) single nucleotide variant Benign rs578430 GRCh38 Chromosome 9, 110800863: 110800863
41 MUSK NM_005592.3(MUSK): c.299C> T (p.Thr100Met) single nucleotide variant Benign/Likely benign rs35142681 GRCh37 Chromosome 9, 113449489: 113449489
42 MUSK NM_005592.3(MUSK): c.299C> T (p.Thr100Met) single nucleotide variant Benign/Likely benign rs35142681 GRCh38 Chromosome 9, 110687209: 110687209
43 RAPSN NM_005055.4(RAPSN): c.1143T> C (p.Pro381=) single nucleotide variant Benign rs7126210 GRCh37 Chromosome 11, 47460306: 47460306
44 RAPSN NM_005055.4(RAPSN): c.1143T> C (p.Pro381=) single nucleotide variant Benign rs7126210 GRCh38 Chromosome 11, 47438755: 47438755
45 RAPSN NM_005055.4(RAPSN): c.172C> T (p.Arg58Cys) single nucleotide variant Benign/Likely benign rs34312154 GRCh37 Chromosome 11, 47470345: 47470345
46 RAPSN NM_005055.4(RAPSN): c.172C> T (p.Arg58Cys) single nucleotide variant Benign/Likely benign rs34312154 GRCh38 Chromosome 11, 47448793: 47448793
47 RAPSN NM_005055.4(RAPSN): c.456T> C (p.Tyr152=) single nucleotide variant Benign rs7111873 GRCh37 Chromosome 11, 47469439: 47469439
48 RAPSN NM_005055.4(RAPSN): c.456T> C (p.Tyr152=) single nucleotide variant Benign rs7111873 GRCh38 Chromosome 11, 47447887: 47447887
49 RAPSN NM_005055.4(RAPSN): c.855G> A (p.Gln285=) single nucleotide variant Benign/Likely benign rs45603036 GRCh37 Chromosome 11, 47463220: 47463220
50 RAPSN NM_005055.4(RAPSN): c.855G> A (p.Gln285=) single nucleotide variant Benign/Likely benign rs45603036 GRCh38 Chromosome 11, 47441668: 47441668

Expression for Fetal Akinesia Deformation Sequence

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

Pathways for Fetal Akinesia Deformation Sequence

GO Terms for Fetal Akinesia Deformation Sequence

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN
2 neuron projection GO:0043005 9.58 CHRNA1 CHRND CHRNG
3 neuromuscular junction GO:0031594 9.46 CHRNA1 CHRND MUSK RAPSN
4 acetylcholine-gated channel complex GO:0005892 9.43 CHRNA1 CHRND CHRNG
5 integral component of postsynaptic specialization membrane GO:0099060 9.37 CHRNA1 CHRND
6 postsynaptic membrane GO:0045211 9.35 CHRNA1 CHRND CHRNG MUSK RAPSN
7 synapse GO:0045202 9.1 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.71 CHRNA1 CHRND CHRNG
2 chemical synaptic transmission GO:0007268 9.71 CHRNA1 CHRND CHRNG RAPSN
3 regulation of membrane potential GO:0042391 9.65 CHRNA1 CHRND CHRNG
4 excitatory postsynaptic potential GO:0060079 9.63 CHRNA1 CHRND CHRNG
5 cation transport GO:0006812 9.55 CHRNA1 CHRND
6 nervous system process GO:0050877 9.54 CHRNA1 CHRND CHRNG
7 neuromuscular junction development GO:0007528 9.52 CHRNA1 MUSK
8 neuromuscular process GO:0050905 9.51 CHRNA1 CHRND
9 regulation of postsynaptic membrane potential GO:0060078 9.5 CHRNA1 CHRND CHRNG
10 skeletal muscle contraction GO:0003009 9.49 CHRNA1 CHRND
11 musculoskeletal movement GO:0050881 9.43 CHRNA1 CHRND
12 response to nicotine GO:0035094 9.33 CHRNA1 CHRND CHRNG
13 skeletal muscle tissue growth GO:0048630 9.26 CHRNA1 CHRND
14 neuromuscular synaptic transmission GO:0007274 9.13 CHRNA1 CHRND CHRNG
15 synaptic transmission, cholinergic GO:0007271 8.92 CHRNA1 CHRND CHRNG RAPSN

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.58 CHRNA1 CHRND MUSK
2 ion channel activity GO:0005216 9.54 CHRNA1 CHRND CHRNG
3 extracellular ligand-gated ion channel activity GO:0005230 9.5 CHRNA1 CHRND CHRNG
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 CHRNA1 CHRND
5 ligand-gated ion channel activity GO:0015276 9.43 CHRNA1 CHRND CHRNG
6 acetylcholine binding GO:0042166 9.33 CHRNA1 CHRND CHRNG
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRNA1 CHRND CHRNG
8 acetylcholine receptor activity GO:0015464 8.8 CHRNA1 CHRND CHRNG

Sources for Fetal Akinesia Deformation Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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