MCID: FTL009
MIFTS: 51

Fetal Akinesia Deformation Sequence malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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Aliases & Descriptions for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 49 11 45 67
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 45 67
Pena-Shokeir Syndrome, Type 1 45 24
Fetal Akinesia Sequence 45 67
Fads 45 67
 
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 45
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 45
Pena-Shokeir Syndrome Type I 65
Pena-Shokeir Syndrome Type 1 67


Classifications:



External Ids:

OMIM49 208150
MedGen34 C1276035

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:45 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 arthrogryposis multiplex congenita with pulmonary hypoplasia, is related to multiple pterygium syndrome, lethal type and dok7-related fetal akinesia deformation sequence, and has symptoms including stillbirth, autosomal recessive inheritance and cryptorchidism. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (Receptor-Associated Protein Of The Synapse), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include lung, bone and placenta, and related mouse phenotypes are respiratory system and nervous system.

OMIM:49 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot:67 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:68 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Fetal Akinesia Deformation Sequence

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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 102)
idRelated DiseaseScoreTop Affiliating Genes
1multiple pterygium syndrome, lethal type29.9CHRNA1, CHRND, CHRNG, RAPSN
2dok7-related fetal akinesia deformation sequence10.5
3rapsn-related fetal akinesia deformation sequence10.5
4lissencephaly type 3 - familial fetal akinesia sequence10.5
5neuronitis10.3
6distal arthrogryposis10.3
7neuroaxonal dystrophy10.3
8hydranencephaly10.3
9myopathy10.3
10oligohydramnios10.3
11polymicrogyria10.3
12cortical dysplasia, complex, with other brain malformations 210.2
13nemaline myopathy 910.2
14nemaline myopathy 8, autosomal recessive10.2
15arthrogryposis, lethal, with anterior horn cell disease10.2
16myopathy, congenital, compton-north10.2
17metatropic dysplasia10.2
18lethal congenital contracture syndrome 710.2
19lissencephaly10.2
20nemaline myopathy10.2
21fetal akinesia syndrome x-linked10.2
22fetal edema10.2
23morse-rawnsley-sargent syndrome10.2
24familial thoracic aortic aneurysm and dissection10.2
25coronary artery disease10.1
26artery disease10.1
27paraneoplastic syndromes10.1
28typhoidal tularemia10.0CHRNG, MUSK
29dpyd-related altered drug metabolism10.0DOK7, MUSK, RAPSN
30rdh5-related fundus albipunctatus10.0DOK7, MUSK, RAPSN
31myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.0FLAD1, MUSK
32dermatitis, atopic 210.0
33atopy10.0
34fanconi anemia, complementation group d210.0
35glutaric acidemia iic10.0
36alzheimer disease10.0
37burkitt lymphoma10.0
38lymphoma, non-hodgkin10.0
39fanconi anemia, complementation group d110.0
40l-2-hydroxyglutaric aciduria10.0
41choroideremia10.0
42congenital methemoglobinemia10.0
43dilated cardiomyopathy10.0
44peripheral t-cell lymphoma10.0
45skin conditions10.0
46skin disease10.0
47patellofemoral pain syndrome10.0
48maturity-onset diabetes of the young10.0
49antley-bixler syndrome10.0
50cadasil10.0

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



Diseases related to fetal akinesia deformation sequence

Symptoms for Fetal Akinesia Deformation Sequence

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Symptoms by clinical synopsis from OMIM:

208150

Clinical features from OMIM:

208150

HPO human phenotypes related to Fetal Akinesia Deformation Sequence:

(show all 41)
id Description Frequency HPO Source Accession
1 stillbirth 30% HP:0003826
2 autosomal recessive inheritance HP:0000007
3 cryptorchidism HP:0000028
4 narrow mouth HP:0000160
5 cleft palate HP:0000175
6 high palate HP:0000218
7 hydrocephalus HP:0000238
8 hypertelorism HP:0000316
9 long philtrum HP:0000343
10 micrognathia HP:0000347
11 posteriorly rotated ears HP:0000358
12 depressed nasal tip HP:0000437
13 short neck HP:0000470
14 telecanthus HP:0000506
15 ptosis HP:0000508
16 proptosis HP:0000520
17 blepharophimosis HP:0000581
18 thin ribs HP:0000883
19 ulnar deviation of the hand or of fingers of the hand HP:0001193
20 short umbilical cord HP:0001196
21 cerebellar hypoplasia HP:0001321
22 absent septum pellucidum HP:0001331
23 abnormality of the abdomen HP:0001438
24 intrauterine growth retardation HP:0001511
25 small for gestational age HP:0001518
26 polyhydramnios HP:0001561
27 premature birth HP:0001622
28 talipes equinovarus HP:0001762
29 rocker bottom foot HP:0001838
30 fetal akinesia sequence HP:0001989
31 pulmonary hypoplasia HP:0002089
32 cavum septum pellucidum HP:0002389
33 abnormality of pelvic girdle bone morphology HP:0002644
34 arthrogryposis multiplex congenita HP:0002804
35 elbow ankylosis HP:0003070
36 slender long bone HP:0003100
37 generalized amyotrophy HP:0003700
38 thoracic hypoplasia HP:0005257
39 small placenta HP:0006266
40 short palpebral fissure HP:0012745
41 camptodactyly of finger HP:0100490

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fetal Akinesia Deformation Sequence

Genetic Tests for Fetal Akinesia Deformation Sequence

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Genetic tests related to Fetal Akinesia Deformation Sequence:

id Genetic test Affiliating Genes
1 Pena-Shokeir Syndrome Type I24

Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

33
Lung, Bone, Placenta, Skeletal muscle, Brain

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

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MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2CHRNE, CHRNG, DOK7, MUSK, RAPSN
2MP:00036317.4CHRNA1, CHRNE, CHRNG, DOK7, MUSK, RAPSN

Publications for Fetal Akinesia Deformation Sequence

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Articles related to Fetal Akinesia Deformation Sequence:

(show all 31)
idTitleAuthorsYear
1
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (25612909)
2015
2
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (26033833)
2015
3
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (25537362)
2014
4
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. (25045026)
2014
5
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. (22765395)
2013
6
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (22482962)
2012
7
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
8
Fetal akinesia deformation sequence. Case report. (20212403)
2010
9
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. (20235854)
2010
10
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)
2009
11
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
12
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
2009
13
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)
2008
14
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. (17130047)
2006
15
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. (16147849)
2005
16
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. (15192292)
2004
17
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. (12795555)
2003
18
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
19
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
2002
20
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. (11810649)
2002
21
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
2001
22
Fetal akinesia deformation sequence in a highly developed acardius twin. (9354846)
1997
23
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. (7484094)
1995
24
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). (8597848)
1995
25
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. (1615431)
1992
26
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
27
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
28
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
1991
29
The fetal akinesia deformation sequence. A fetopathological approach. (2222918)
1990
30
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. (3278614)
1988
31
Fetal akinesia deformation sequence in previable fetuses. (3344777)
1988

Variations for Fetal Akinesia Deformation Sequence

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

67
id Symbol AA change Variation ID SNP ID
1MUSKp.Ile575ThrVAR_072787
2RAPSNp.Phe139SerVAR_043899
3RAPSNp.Ala189ValVAR_043902

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
2MUSKNM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs)duplicationPathogenicGRCh37Chr 9, 113431224: 113431224
3MUSKMUSK, ILE575THRsingle nucleotide variantPathogenic
4RAPSNNM_005055.4(RAPSN): c.829A> G (p.Thr277Ala)single nucleotide variantLikely pathogenicGRCh38Chr 11, 47441694: 47441694
5RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenic
6RAPSNNM_005055.4(RAPSN): c.416T> C (p.Phe139Ser)single nucleotide variantPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
7RAPSNNM_005055.4(RAPSN): c.566C> T (p.Ala189Val)single nucleotide variantPathogenicrs121909257GRCh37Chr 11, 47464332: 47464332

Expression for genes affiliated with Fetal Akinesia Deformation Sequence

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

Pathways for genes affiliated with Fetal Akinesia Deformation Sequence

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GO Terms for genes affiliated with Fetal Akinesia Deformation Sequence

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:00315949.5CHRNA1, MUSK, RAPSN
2acetylcholine-gated channel complexGO:00058928.6CHRNA1, CHRND, CHRNE, CHRNG
3neuron projectionGO:00430058.4CHRNA1, CHRND, CHRNE, CHRNG
4synapseGO:00452027.4CHRND, CHRNE, CHRNG, DOK7, MUSK, RAPSN
5membraneGO:00160207.4CHRNA1, CHRND, CHRNE, CHRNG, MUSK, RAPSN
6postsynaptic membraneGO:00452117.3CHRNA1, CHRND, CHRNE, CHRNG, MUSK, RAPSN
7cell junctionGO:00300546.8CHRNA1, CHRND, CHRNE, CHRNG, DOK7, MUSK
8plasma membraneGO:00058866.4CHRNA1, CHRND, CHRNE, CHRNG, DOK7, FLAD1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of neuron apoptotic processGO:004352510.3MUSK, RAPSN
2neuromuscular processGO:00509059.7CHRNA1, CHRND
3musculoskeletal movementGO:00508819.5CHRNA1, CHRND
4skeletal muscle tissue growthGO:00486309.4CHRNA1, CHRND
5neurological system processGO:00508779.2CHRND, CHRNE, CHRNG
6skeletal muscle contractionGO:00030099.1CHRNA1, CHRND, CHRNE
7muscle contractionGO:00069369.1CHRND, CHRNE, CHRNG
8neuromuscular junction developmentGO:00075289.0CHRNA1, MUSK
9response to nicotineGO:00350948.5CHRNA1, CHRND, CHRNE, CHRNG
10cation transportGO:00068128.5CHRNA1, CHRND, CHRNE, CHRNG
11neuromuscular synaptic transmissionGO:00072748.5CHRNA1, CHRND, CHRNE, CHRNG
12cation transmembrane transportGO:00986558.5CHRNA1, CHRND, CHRNE, CHRNG
13ion transportGO:00068118.3CHRNA1, CHRND, CHRNE, CHRNG
14transportGO:00068108.2CHRNA1, CHRND, CHRNE, CHRNG
15synaptic transmission, cholinergicGO:00072718.1CHRNA1, CHRND, CHRNE, CHRNG, RAPSN
16regulation of membrane potentialGO:00423918.1CHRNA1, CHRND, CHRNE, CHRNG
17synaptic transmissionGO:00072687.6CHRNA1, CHRND, CHRNE, CHRNG, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-activated cation-selective channel activityGO:00048898.1CHRNA1, CHRND, CHRNE, CHRNG
2acetylcholine bindingGO:00421668.1CHRNA1, CHRND, CHRNE, CHRNG
3extracellular ligand-gated ion channel activityGO:00052308.0CHRNA1, CHRND, CHRNE, CHRNG
4acetylcholine receptor activityGO:00154647.8CHRNA1, CHRND, CHRNE, CHRNG

Sources for Fetal Akinesia Deformation Sequence

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet