FADS
MCID: FTL009
MIFTS: 50

Fetal Akinesia Deformation Sequence (FADS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence

Aliases & Descriptions for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 54 50 66 13
Fetal Akinesia Sequence 50 66 29
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 50 66
Pena-Shokeir Syndrome Type 1 66 29
Fads 50 66
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 50
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 50
Pena-Shokeir Syndrome, Type 1 50
Pena-Shokeir Syndrome Type I 69

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 208150
MedGen 40 C1276035

Summaries for Fetal Akinesia Deformation Sequence

NIH Rare Diseases : 50 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. last updated: 10/3/2012

MalaCards based summary : Fetal Akinesia Deformation Sequence, also known as fetal akinesia sequence, is related to dok7-related fetal akinesia deformation sequence and rapsn-related fetal akinesia deformation sequence, and has symptoms including excessive daytime somnolence, hypertelorism and short neck. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include lung, bone and placenta, and related phenotypes are Increased shRNA abundance (Z-score > 2) and mortality/aging

OMIM : 54 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Fetal Akinesia Deformation Sequence

Diseases in the Fetal Akinesia Deformation Sequence family:

Dok7-Related Fetal Akinesia Deformation Sequence Rapsn-Related 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 62)
id Related Disease Score Top Affiliating Genes
1 dok7-related fetal akinesia deformation sequence 12.2
2 rapsn-related fetal akinesia deformation sequence 12.2
3 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.1
4 glutaric acidemia iic 10.8
5 early-onset, autosomal dominant alzheimer disease 10.8
6 ehlers-danlos syndrome, classic type, col1a1-related 10.1 DOK7 RAPSN
7 retinal dystrophy, early-onset, and pituitary dysfunction 10.1 DOK7 RAPSN
8 mitochondrial complex iii deficiency, nuclear type 2 10.1 MUSK RAPSN
9 atrioventricular septal defect 10.0 DOK7 RAPSN
10 peroxisome biogenesis disorder 8a, 10.0 DOK7 MUSK RAPSN
11 mycobacterium marinum 10.0 CHRNG RAPSN
12 sosby syndrome 10.0 CHRNA1 CHRND
13 neuronitis 9.9
14 carney complex variant 9.9 DOK7 RAPSN
15 microlissencephaly 9.9
16 myopathy 9.9
17 distal arthrogryposis 9.9
18 hydranencephaly 9.9
19 congenital myopathy 9.9
20 oligohydramnios 9.9
21 polymicrogyria 9.9
22 tubulinopathies 9.9
23 neuroaxonal dystrophy 9.9
24 paraurethral gland cancer 9.9 CHRNG MUSK
25 amelogenesis imperfecta, type iia5 9.8 CHRND CHRNG
26 paraneoplastic syndromes 9.7
27 artery disease 9.7
28 coronary artery disease 9.7
29 choroideremia 9.7
30 granulomatous orchitis 9.7 CHRND CHRNG DOK7
31 cascade stomach 9.7 CHRNA1 CHRND CHRNG
32 snowflake vitreoretinal degeneration 9.7 CHRNA1 CHRND CHRNG
33 neonatal stroke 9.7 CHRNA1 CHRNG MUSK RAPSN
34 congenital methemoglobinemia 9.6
35 food allergy 9.6
36 dilated cardiomyopathy 9.6
37 cerebritis 9.6
38 antley-bixler syndrome 9.6
39 acute myocarditis 9.6
40 maturity-onset diabetes of the young 9.6
41 encephalopathy 9.6
42 pneumonia 9.6
43 conjunctivitis 9.6
44 tabes dorsalis 9.6
45 thyroiditis 9.6
46 venous insufficiency 9.6
47 methemoglobinemia 9.6
48 myocarditis 9.6
49 diabetic macular edema 9.6
50 cadasil 9.6

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 by clinical synopsis from OMIM:

208150

Clinical features from OMIM:

208150

Human phenotypes related to Fetal Akinesia Deformation Sequence:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 excessive daytime somnolence 32 HP:0001262
2 hypertelorism 32 HP:0000316
3 short neck 32 HP:0000470
4 hydrocephalus 32 HP:0000238
5 ptosis 32 HP:0000508
6 respiratory insufficiency 32 HP:0002093
7 scoliosis 32 HP:0002650
8 depressed nasal bridge 32 HP:0005280
9 cleft palate 32 HP:0000175
10 long philtrum 32 HP:0000343
11 micrognathia 32 HP:0000347
12 cryptorchidism 32 HP:0000028
13 high, narrow palate 32 HP:0002705
14 cystic hygroma 32 HP:0000476
15 arthrogryposis multiplex congenita 32 HP:0002804
16 telecanthus 32 HP:0000506
17 cerebellar hypoplasia 32 HP:0001321
18 thin ribs 32 HP:0000883
19 intrauterine growth retardation 32 HP:0001511
20 narrow mouth 32 HP:0000160
21 polyhydramnios 32 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 HP:0100490
28 dandy-walker malformation 32 HP:0001305
29 hypokinesia 32 HP:0002375
30 pterygium 32 HP:0001059
31 premature birth 32 HP:0001622
32 depressed nasal tip 32 HP:0000437
33 thoracic hypoplasia 32 HP:0005257
34 absent palmar crease 32 HP:0010489
35 rocker bottom foot 32 HP:0001838
36 pulmonary hypoplasia 32 HP:0002089
37 intestinal hypoplasia 32 HP:0005245
38 short palpebral fissure 32 HP:0012745
39 slender long bone 32 HP:0003100
40 generalized amyotrophy 32 HP:0003700
41 small for gestational age 32 HP:0001518
42 multiple joint contractures 32 HP:0002828
43 elbow ankylosis 32 HP:0003070
44 posteriorly rotated ears 32 HP:0000358
45 akinesia 32 HP:0002304
46 small placenta 32 HP:0006266
47 fetal akinesia sequence 32 HP:0001989
48 abnormality of abdomen morphology 32 HP:0001438
49 cavum septum pellucidum 32 HP:0002389
50 ulnar deviation of the hand 32 HP:0009487

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 CHRNA1 CHRNG DOK7 KLHL40 MUSK RAPSN
2 muscle MP:0005369 9.55 KLHL40 MUSK RAPSN CHRNG DOK7
3 nervous system MP:0003631 9.43 CHRNA1 CHRNG DOK7 MUSK RAPSN TUBB2B
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:

id Genetic test Affiliating Genes
1 Pena-Shokeir Syndrome Type I 29
2 Fetal Akinesia Sequence 29

Anatomical Context for Fetal Akinesia Deformation Sequence

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

39
Lung, Bone, Placenta, Skeletal Muscle, Brain

Publications for Fetal Akinesia Deformation Sequence

Articles related to Fetal Akinesia Deformation Sequence:

(show all 36)
id Title Authors Year
1
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ( 28495245 )
2017
2
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
3
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
4
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. ( 26825730 )
2016
5
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
6
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). ( 25612909 )
2015
7
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ( 25537362 )
2014
8
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. ( 25045026 )
2014
9
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. ( 22765395 )
2013
10
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
11
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
12
Fetal akinesia deformation sequence. Case report. ( 20212403 )
2010
13
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. ( 19968489 )
2010
14
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
15
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ( 19645055 )
2009
16
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). ( 19944545 )
2009
17
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ( 18252226 )
2008
18
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. ( 17130047 )
2006
19
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. ( 16147849 )
2005
20
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. ( 15192292 )
2004
21
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. ( 12795555 )
2003
22
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. ( 11810649 )
2002
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
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. ( 11555456 )
2001
26
Fetal akinesia deformation sequence in a highly developed acardius twin. ( 9354846 )
1997
27
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). ( 8597848 )
1995
28
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. ( 7484094 )
1995
29
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. ( 1615431 )
1992
30
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. ( 1951430 )
1991
31
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. ( 1723604 )
1991
32
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. ( 1891100 )
1991
33
The fetal akinesia deformation sequence. A fetopathological approach. ( 2222918 )
1990
34
Fetal akinesia deformation sequence in previable fetuses. ( 3344777 )
1988
35
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. ( 3278614 )
1988
36
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:

66
id 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

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
2 RAPSN RAPSN, 2-BP DEL, 1177AA deletion Pathogenic
3 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh37 Chromosome 11, 47469479: 47469479
4 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh37 Chromosome 11, 47464332: 47464332
5 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh37 Chromosome 9, 113431224: 113431224
6 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Pathogenic/Likely pathogenic rs751889864 GRCh38 Chromosome 9, 110785664: 110785664

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:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.73 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN
2 neuromuscular junction GO:0031594 9.5 CHRNA1 MUSK RAPSN
3 postsynaptic membrane GO:0045211 9.35 CHRNA1 CHRND CHRNG MUSK RAPSN
4 acetylcholine-gated channel complex GO:0005892 9.33 CHRNA1 CHRND CHRNG
5 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)
id Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.61 CHRNA1 CHRND CHRNG
2 excitatory postsynaptic potential GO:0060079 9.58 CHRNA1 CHRND CHRNG
3 muscle contraction GO:0006936 9.55 CHRND CHRNG
4 regulation of membrane potential GO:0042391 9.54 CHRNA1 CHRND
5 cation transport GO:0006812 9.52 CHRNA1 CHRND
6 neuromuscular junction development GO:0007528 9.51 CHRNA1 MUSK
7 regulation of postsynaptic membrane potential GO:0060078 9.5 CHRNA1 CHRND CHRNG
8 neuromuscular process GO:0050905 9.49 CHRNA1 CHRND
9 skeletal muscle contraction GO:0003009 9.48 CHRNA1 CHRND
10 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.46 MUSK RAPSN
11 musculoskeletal movement GO:0050881 9.37 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA1 CHRND CHRNG
2 ligand-gated ion channel activity GO:0015276 9.33 CHRNA1 CHRND CHRNG
3 acetylcholine receptor activity GO:0015464 9.32 CHRNA1 CHRNG
4 acetylcholine binding GO:0042166 9.13 CHRNA1 CHRND CHRNG
5 acetylcholine-gated cation-selective channel activity GO:0022848 8.8 CHRNA1 CHRND CHRNG

Sources for Fetal Akinesia Deformation Sequence

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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