MCID: FTL009
MIFTS: 53

Fetal Akinesia Deformation Sequence

Categories: Genetic diseases, Rare diseases, Fetal 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 Activation of 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 congenital (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 73)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 29.1 CHRNA1 CHRND CHRNG
2 oligohydramnios 29.0 CHRNA1 CHRND CHRNG
3 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.2
4 early-onset, autosomal dominant alzheimer disease 11.3
5 multiple acyl-coa dehydrogenase deficiency 11.2
6 restrictive dermopathy, lethal 11.1
7 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.2 DOK7 MUSK
8 type i 10.1
9 neonatal myasthenia gravis 10.1 CHRNG MUSK
10 neuronitis 10.1
11 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.0 DOK7 MUSK
12 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 10.0
13 myopathy, congenital 10.0
14 congenital disorder of glycosylation, type in 10.0
15 distal arthrogryposis 10.0
16 neuroaxonal dystrophy 10.0
17 myopathy 10.0
18 hydranencephaly 10.0
19 polymicrogyria 10.0
20 tubulinopathies 10.0
21 alopecia, epilepsy, pyorrhea, mental subnormality 10.0
22 microlissencephaly 10.0
23 alzheimer disease 10.0
24 sclerosteosis 2 9.9 DOK7 MUSK RAPSN
25 arteries, anomalies of 9.9
26 coronary artery anomaly 9.9
27 cenani-lenz syndactyly syndrome 9.9 DOK7 MUSK RAPSN
28 nemaline myopathy 9.9
29 choroideremia 9.8
30 aging 9.8
31 paraneoplastic syndromes 9.8
32 peripheral nervous system disease 9.8 MUSK RAPSN
33 slow-channel congenital myasthenic syndrome 9.8 CHRNA1 CHRND
34 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.7
35 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.7
36 l-2-hydroxyglutaric aciduria 9.7
37 paine syndrome 9.7
38 maturity-onset diabetes of the young 9.7
39 riboflavin deficiency 9.7
40 congenital methemoglobinemia 9.7
41 chronic granulomatous disease 9.7
42 diabetes mellitus 9.7
43 dilated cardiomyopathy 9.7
44 antley-bixler syndrome 9.7
45 tabes dorsalis 9.7
46 venous insufficiency 9.7
47 methemoglobinemia 9.7
48 patellofemoral pain syndrome 9.7
49 prostatitis 9.7
50 thyroid cancer 9.7

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
premature birth
stillborn (30%)

Respiratory Lung:
pulmonary hypoplasia

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal Feet:
talipes equinovarus
rocker-bottom feet
ankle ankylosis

Head And Neck Nose:
depressed nasal tip

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 telecanthus 32 HP:0000506
18 cerebellar hypoplasia 32 HP:0001321
19 thin ribs 32 HP:0000883
20 narrow mouth 32 HP:0000160
21 polyhydramnios 32 frequent (33%) HP:0001561
22 talipes equinovarus 32 HP:0001762
23 blepharophimosis 32 HP:0000581
24 abnormality of pelvic girdle bone morphology 32 HP:0002644
25 proptosis 32 HP:0000520
26 absent septum pellucidum 32 HP:0001331
27 camptodactyly of finger 32 hallmark (90%) HP:0100490
28 dandy-walker malformation 32 occasional (7.5%) HP:0001305
29 hypokinesia 32 hallmark (90%) HP:0002375
30 premature birth 32 HP:0001622
31 pterygium 32 occasional (7.5%) HP:0001059
32 depressed nasal tip 32 HP:0000437
33 thoracic hypoplasia 32 HP:0005257
34 absent palmar crease 32 hallmark (90%) HP:0010489
35 rocker bottom foot 32 HP:0001838
36 pulmonary hypoplasia 32 hallmark (90%) HP:0002089
37 intestinal hypoplasia 32 occasional (7.5%) HP:0005245
38 short palpebral fissure 32 HP:0012745
39 excessive daytime somnolence 32 hallmark (90%) HP:0001262
40 slender long bone 32 HP:0003100
41 posteriorly rotated ears 32 frequent (33%) HP:0000358
42 generalized amyotrophy 32 frequent (33%) HP:0003700
43 small for gestational age 32 HP:0001518
44 multiple joint contractures 32 hallmark (90%) HP:0002828
45 elbow ankylosis 32 HP:0003070
46 short umbilical cord 32 HP:0001196
47 small placenta 32 HP:0006266
48 akinesia 32 hallmark (90%) HP:0002304
49 fetal akinesia sequence 32 hallmark (90%) HP:0001989
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 MUSK CHRNA1
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 PDHA1 RAPSN CHRNG DOK7 KLHL40 MUSK
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

Publications for Fetal Akinesia Deformation Sequence

Articles related to Fetal Akinesia Deformation Sequence:

(show all 37)
# Title Authors Year
1
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ( 28495245 )
2017
2
Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). ( 28784231 )
2017
3
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
4
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
5
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. ( 26825730 )
2016
6
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
7
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). ( 25612909 )
2015
8
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ( 25537362 )
2014
9
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. ( 25045026 )
2014
10
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. ( 22765395 )
2013
11
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
12
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. ( 19968489 )
2010
13
Fetal akinesia deformation sequence. Case report. ( 20212403 )
2010
14
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
15
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
16
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). ( 19944545 )
2009
17
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ( 19645055 )
2009
18
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ( 18252226 )
2008
19
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. ( 17130047 )
2006
20
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. ( 16147849 )
2005
21
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. ( 15192292 )
2004
22
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. ( 12795555 )
2003
23
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. ( 11857548 )
2002
24
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. ( 12400062 )
2002
25
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. ( 11810649 )
2002
26
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. ( 11555456 )
2001
27
Fetal akinesia deformation sequence in a highly developed acardius twin. ( 9354846 )
1997
28
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. ( 7484094 )
1995
29
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). ( 8597848 )
1995
30
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. ( 1615431 )
1992
31
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. ( 1951430 )
1991
32
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. ( 1723604 )
1991
33
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. ( 1891100 )
1991
34
The fetal akinesia deformation sequence. A fetopathological approach. ( 2222918 )
1990
35
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. ( 3278614 )
1988
36
Fetal akinesia deformation sequence in previable fetuses. ( 3344777 )
1988
37
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 369)
# 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 RAPSN, 2-BP DEL, 1177AA deletion Pathogenic
9 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh37 Chromosome 11, 47469479: 47469479
10 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh38 Chromosome 11, 47447927: 47447927
11 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh37 Chromosome 11, 47464332: 47464332
12 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh38 Chromosome 11, 47442780: 47442780
13 FBN2 NM_001999.3(FBN2): c.1064G> A (p.Gly355Asp) single nucleotide variant Likely pathogenic rs730882230 GRCh38 Chromosome 5, 128408688: 128408688
14 FBN2 NM_001999.3(FBN2): c.1064G> A (p.Gly355Asp) single nucleotide variant Likely pathogenic rs730882230 GRCh37 Chromosome 5, 127744381: 127744381
15 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh37 Chromosome 9, 113431224: 113431224
16 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh38 Chromosome 9, 110668944: 110668944
17 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Likely pathogenic rs751889864 GRCh38 Chromosome 9, 110785664: 110785664
18 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Likely pathogenic rs751889864 GRCh37 Chromosome 9, 113547944: 113547944
19 DOK7 NM_173660.4(DOK7): c.331+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370879328 GRCh37 Chromosome 4, 3475372: 3475372
20 DOK7 NM_173660.4(DOK7): c.331+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370879328 GRCh38 Chromosome 4, 3473645: 3473645
21 DOK7 NM_173660.4(DOK7): c.134C> T (p.Ser45Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62272670 GRCh37 Chromosome 4, 3475166: 3475166
22 DOK7 NM_173660.4(DOK7): c.134C> T (p.Ser45Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62272670 GRCh38 Chromosome 4, 3473439: 3473439
23 RAPSN NM_005055.4(RAPSN): c.691-11delC deletion Benign rs34729771 GRCh37 Chromosome 11, 47463484: 47463484
24 RAPSN NM_005055.4(RAPSN): c.691-11delC deletion Benign rs34729771 GRCh38 Chromosome 11, 47441932: 47441932
25 MUSK NM_005592.3(MUSK): c.398T> C (p.Ile133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55980069 GRCh37 Chromosome 9, 113457722: 113457722
26 MUSK NM_005592.3(MUSK): c.398T> C (p.Ile133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55980069 GRCh38 Chromosome 9, 110695442: 110695442
27 MUSK NM_005592.3(MUSK): c.486G> C (p.Arg162Ser) single nucleotide variant Uncertain significance rs200750233 GRCh37 Chromosome 9, 113457810: 113457810
28 MUSK NM_005592.3(MUSK): c.486G> C (p.Arg162Ser) single nucleotide variant Uncertain significance rs200750233 GRCh38 Chromosome 9, 110695530: 110695530
29 DOK7 NM_173660.4(DOK7): c.1403_1408delGCCCTG (p.Gly468_Pro469del) deletion Uncertain significance rs794727883 GRCh37 Chromosome 4, 3495116: 3495121
30 DOK7 NM_173660.4(DOK7): c.1403_1408delGCCCTG (p.Gly468_Pro469del) deletion Uncertain significance rs794727883 GRCh38 Chromosome 4, 3493389: 3493394
31 DOK7 NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs) duplication Pathogenic rs761899995 GRCh37 Chromosome 4, 3494851: 3494851
32 DOK7 NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs) duplication Pathogenic rs761899995 GRCh38 Chromosome 4, 3493124: 3493124
33 MUSK NM_005592.3(MUSK): c.374G> T (p.Arg125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375737188 GRCh37 Chromosome 9, 113457698: 113457698
34 MUSK NM_005592.3(MUSK): c.374G> T (p.Arg125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375737188 GRCh38 Chromosome 9, 110695418: 110695418
35 RAPSN NM_005055.4(RAPSN): c.829A> G (p.Thr277Ala) single nucleotide variant no interpretation for the single variant rs863224911 GRCh38 Chromosome 11, 47441694: 47441694
36 RAPSN NM_005055.4(RAPSN): c.829A> G (p.Thr277Ala) single nucleotide variant no interpretation for the single variant rs863224911 GRCh37 Chromosome 11, 47463246: 47463246
37 RAPSN NM_005055.4(RAPSN): c.524A> G (p.Gln175Arg) single nucleotide variant no interpretation for the single variant rs863224912 GRCh37 Chromosome 11, 47469371: 47469371
38 RAPSN NM_005055.4(RAPSN): c.524A> G (p.Gln175Arg) single nucleotide variant no interpretation for the single variant rs863224912 GRCh38 Chromosome 11, 47447819: 47447819
39 RAPSN NM_005055.4(RAPSN): c.241T> C (p.Phe81Leu) single nucleotide variant Benign/Likely benign rs57878668 GRCh37 Chromosome 11, 47469654: 47469654
40 RAPSN NM_005055.4(RAPSN): c.241T> C (p.Phe81Leu) single nucleotide variant Benign/Likely benign rs57878668 GRCh38 Chromosome 11, 47448102: 47448102
41 DOK7 NM_173660.4(DOK7): c.761C> T (p.Pro254Leu) single nucleotide variant Uncertain significance rs200407250 GRCh37 Chromosome 4, 3491512: 3491512
42 DOK7 NM_173660.4(DOK7): c.761C> T (p.Pro254Leu) single nucleotide variant Uncertain significance rs200407250 GRCh38 Chromosome 4, 3489785: 3489785
43 DOK7 NM_173660.4(DOK7): c.282C> T (p.His94=) single nucleotide variant Likely benign rs377025553 GRCh38 Chromosome 4, 3473587: 3473587
44 DOK7 NM_173660.4(DOK7): c.282C> T (p.His94=) single nucleotide variant Likely benign rs377025553 GRCh37 Chromosome 4, 3475314: 3475314
45 DOK7 NM_173660.4(DOK7): c.921C> T (p.Ala307=) single nucleotide variant Benign/Likely benign rs138148221 GRCh38 Chromosome 4, 3492907: 3492907
46 DOK7 NM_173660.4(DOK7): c.921C> T (p.Ala307=) single nucleotide variant Benign/Likely benign rs138148221 GRCh37 Chromosome 4, 3494634: 3494634
47 DOK7 NM_173660.4(DOK7): c.1091G> A (p.Arg364Gln) single nucleotide variant Benign rs201304841 GRCh37 Chromosome 4, 3494804: 3494804
48 DOK7 NM_173660.4(DOK7): c.1091G> A (p.Arg364Gln) single nucleotide variant Benign rs201304841 GRCh38 Chromosome 4, 3493077: 3493077
49 DOK7 NM_173660.4(DOK7): c.1204C> T (p.Arg402Trp) single nucleotide variant Benign rs149905649 GRCh38 Chromosome 4, 3493190: 3493190
50 DOK7 NM_173660.4(DOK7): c.1204C> T (p.Arg402Trp) single nucleotide variant Benign rs149905649 GRCh37 Chromosome 4, 3494917: 3494917

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 9.73 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN
2 neuron projection GO:0043005 9.54 CHRNA1 CHRND CHRNG
3 neuromuscular junction GO:0031594 9.5 CHRNA1 MUSK RAPSN
4 postsynaptic membrane GO:0045211 9.35 CHRNA1 CHRND CHRNG MUSK RAPSN
5 acetylcholine-gated channel complex GO:0005892 9.33 CHRNA1 CHRND CHRNG
6 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 17)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.73 CHRNA1 CHRND CHRNG RAPSN
2 ion transmembrane transport GO:0034220 9.72 CHRNA1 CHRND CHRNG
3 regulation of membrane potential GO:0042391 9.67 CHRNA1 CHRND CHRNG
4 excitatory postsynaptic potential GO:0060079 9.63 CHRNA1 CHRND CHRNG
5 cation transport GO:0006812 9.57 CHRNA1 CHRND
6 cation transmembrane transport GO:0098655 9.56 CHRND CHRNG
7 neuromuscular junction development GO:0007528 9.54 CHRNA1 MUSK
8 nervous system process GO:0050877 9.54 CHRNA1 CHRND CHRNG
9 neuromuscular process GO:0050905 9.52 CHRNA1 CHRND
10 skeletal muscle contraction GO:0003009 9.51 CHRNA1 CHRND
11 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.48 MUSK RAPSN
12 response to nicotine GO:0035094 9.43 CHRNA1 CHRND CHRNG
13 musculoskeletal movement GO:0050881 9.4 CHRNA1 CHRND
14 neuromuscular synaptic transmission GO:0007274 9.33 CHRNA1 CHRND CHRNG
15 skeletal muscle tissue growth GO:0048630 9.32 CHRNA1 CHRND
16 regulation of postsynaptic membrane potential GO:0060078 9.13 CHRNA1 CHRND CHRNG
17 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 ligand-gated ion channel activity GO:0015276 9.43 CHRNA1 CHRND CHRNG
5 acetylcholine binding GO:0042166 9.33 CHRNA1 CHRND CHRNG
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRNA1 CHRND CHRNG
7 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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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