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

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Aliases & Descriptions for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 52 48 70 12
Fetal Akinesia Sequence 48 70 27
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 48 70
Pena-Shokeir Syndrome Type 1 70 27
Fads 48 70
 
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 48
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 48
Pena-Shokeir Syndrome, Type 1 48
Pena-Shokeir Syndrome Type I 68

Characteristics:

HPO:

64
fetal akinesia deformation sequence:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 208150
MedGen37 C1276035

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:48 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 cryptorchidism, narrow mouth and cleft palate. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include lung, bone and placenta, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Increased shRNA abundance (Z-score > 2).

OMIM:52 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot:70 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

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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 62)
idRelated DiseaseScoreTop Affiliating Genes
1dok7-related fetal akinesia deformation sequence12.2
2rapsn-related fetal akinesia deformation sequence12.2
3lissencephaly type 3-familial fetal akinesia sequence syndrome12.1
4glutaric acidemia iic10.8
5early-onset, autosomal dominant alzheimer disease10.8
6ehlers-danlos syndrome, classic type, col1a1-related10.1DOK7, RAPSN
7retinal dystrophy, early-onset, and pituitary dysfunction10.1DOK7, RAPSN
8mitochondrial complex iii deficiency, nuclear type 210.1MUSK, RAPSN
9atrioventricular septal defect10.0DOK7, RAPSN
10peroxisome biogenesis disorder 8a,10.0DOK7, MUSK, RAPSN
11mycobacterium marinum10.0CHRNG, RAPSN
12sosby syndrome10.0CHRNA1, CHRND
13neuronitis9.9
14carney complex variant9.9DOK7, RAPSN
15distal arthrogryposis9.9
16congenital myopathy9.9
17oligohydramnios9.9
18neuroaxonal dystrophy9.9
19myopathy9.9
20hydranencephaly9.9
21polymicrogyria9.9
22tubulinopathies9.9
23microlissencephaly9.9
24paraurethral gland cancer9.9CHRNG, MUSK
25amelogenesis imperfecta, type iia59.8CHRND, CHRNG
26coronary artery disease9.7
27choroideremia9.7
28artery disease9.7
29paraneoplastic syndromes9.7
30granulomatous orchitis9.7CHRND, CHRNG, DOK7
31cascade stomach9.7CHRNA1, CHRND, CHRNG
32snowflake vitreoretinal degeneration9.7CHRNA1, CHRND, CHRNG
33neonatal stroke9.7CHRNA1, CHRNG, MUSK, RAPSN
34alzheimer disease9.6
35l-2-hydroxyglutaric aciduria9.6
36congenital methemoglobinemia9.6
37dilated cardiomyopathy9.6
38antley-bixler syndrome9.6
39maturity-onset diabetes of the young9.6
40tabes dorsalis9.6
41venous insufficiency9.6
42methemoglobinemia9.6
43cadasil9.6
44patellofemoral pain syndrome9.6
45prostatitis9.6
46thyroid cancer9.6
47food allergy9.6
48cerebritis9.6
49acute myocarditis9.6
50pneumonia9.6

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

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Symptoms by clinical synopsis from OMIM:

208150

Clinical features from OMIM:

208150

Human phenotypes related to Fetal Akinesia Deformation Sequence:

 64 (show all 51)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 narrow mouth64 HP:0000160
3 cleft palate64 HP:0000175
4 hydrocephalus64 HP:0000238
5 hypertelorism64 HP:0000316
6 long philtrum64 HP:0000343
7 micrognathia64 HP:0000347
8 posteriorly rotated ears64 HP:0000358
9 depressed nasal tip64 HP:0000437
10 short neck64 HP:0000470
11 telecanthus64 HP:0000506
12 ptosis64 HP:0000508
13 proptosis64 HP:0000520
14 blepharophimosis64 HP:0000581
15 thin ribs64 HP:0000883
16 short umbilical cord64 HP:0001196
17 cerebellar hypoplasia64 HP:0001321
18 absent septum pellucidum64 HP:0001331
19 abnormality of abdomen morphology64 HP:0001438
20 intrauterine growth retardation64 HP:0001511
21 small for gestational age64 HP:0001518
22 polyhydramnios64 HP:0001561
23 premature birth64 HP:0001622
24 talipes equinovarus64 HP:0001762
25 rocker bottom foot64 HP:0001838
26 fetal akinesia sequence64 HP:0001989
27 pulmonary hypoplasia64 HP:0002089
28 cavum septum pellucidum64 HP:0002389
29 abnormality of pelvic girdle bone morphology64 HP:0002644
30 high, narrow palate64 HP:0002705
31 arthrogryposis multiplex congenita64 HP:0002804
32 elbow ankylosis64 HP:0003070
33 slender long bone64 HP:0003100
34 generalized amyotrophy64 HP:0003700
35 thoracic hypoplasia64 HP:0005257
36 small placenta64 HP:0006266
37 ulnar deviation of the hand64 HP:0009487
38 short palpebral fissure64 HP:0012745
39 camptodactyly of finger64 HP:0100490
40 cystic hygroma64 HP:0000476
41 pterygium64 HP:0001059
42 excessive daytime somnolence64 HP:0001262
43 dandy-walker malformation64 HP:0001305
44 respiratory insufficiency64 HP:0002093
45 akinesia64 HP:0002304
46 hypokinesia64 HP:0002375
47 scoliosis64 HP:0002650
48 multiple joint contractures64 HP:0002828
49 intestinal hypoplasia64 HP:0005245
50 depressed nasal bridge64 HP:0005280
51 absent palmar crease64 HP:0010489

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.3CHRNA1, RAPSN
2GR00366-A-1928.8CHRNA1, CHRNG, MUSK

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3CHRNG, DOK7, MUSK, RAPSN, TUBB2B
2MP:00053698.3CHRNG, DOK7, KLHL40, MUSK, RAPSN
3MP:00036317.8CHRNA1, CHRNG, DOK7, MUSK, RAPSN, TUBB2B
4MP:00107687.3CHRNA1, CHRNG, DOK7, KLHL40, MUSK, RAPSN

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 I27
2 Fetal Akinesia Sequence27

Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

36
Lung, Bone, Placenta, Skeletal muscle, Brain

Publications for Fetal Akinesia Deformation Sequence

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Articles related to Fetal Akinesia Deformation Sequence:

(show all 36)
idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1MUSKp.Ile575ThrVAR_072787rs751889864
2RAPSNp.Phe139SerVAR_043899rs121909256
3RAPSNp.Ala189ValVAR_043902rs121909257
4TUBB2Bp.Cys239PheVAR_078187

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7DOK7, IVS3DS, G-T, +1SNVPathogenic
2MUSKNM_ 005592.3(MUSK): c.40dupA (p.Thr14Asnfs)duplicationPathogenicrs863223335GRCh37Chr 9, 113431224: 113431224
3MUSKNM_ 005592.3(MUSK): c.1724T> C (p.Ile575Thr)SNVPathogenic/ Likely pathogenicrs751889864GRCh38Chr 9, 110785664: 110785664
4RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenic
5RAPSNNM_ 005055.4(RAPSN): c.416T> C (p.Phe139Ser)SNVPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
6RAPSNNM_ 005055.4(RAPSN): c.566C> T (p.Ala189Val)SNVPathogenicrs121909257GRCh37Chr 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:00315949.9CHRNA1, MUSK, RAPSN
2acetylcholine-gated channel complexGO:00058929.2CHRNA1, CHRND, CHRNG
3postsynaptic membraneGO:00452118.4CHRNA1, CHRND, CHRNG, MUSK, RAPSN
4cell junctionGO:00300548.1CHRNA1, CHRND, CHRNG, DOK7, MUSK, RAPSN
5synapseGO:00452027.4CHRNA1, CHRND, CHRNG, DOK7, MUSK, RAPSN

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle acetylcholine-gated channel clusteringGO:007134010.2MUSK, RAPSN
2neuromuscular junction developmentGO:000752810.2CHRNA1, MUSK
3cation transportGO:000681210.0CHRNA1, CHRND
4musculoskeletal movementGO:005088110.0CHRNA1, CHRND
5neuromuscular processGO:00509059.9CHRNA1, CHRND
6regulation of membrane potentialGO:00423919.9CHRNA1, CHRND
7skeletal muscle contractionGO:00030099.7CHRNA1, CHRND
8skeletal muscle tissue growthGO:00486309.7CHRNA1, CHRND
9muscle contractionGO:00069369.7CHRND, CHRNG
10cation transmembrane transportGO:00986559.2CHRNA1, CHRND, CHRNG
11excitatory postsynaptic potentialGO:00600799.2CHRNA1, CHRND, CHRNG
12neuromuscular synaptic transmissionGO:00072749.1CHRNA1, CHRND, CHRNG
13regulation of postsynaptic membrane potentialGO:00600789.0CHRNA1, CHRND, CHRNG
14response to nicotineGO:00350949.0CHRNA1, CHRND, CHRNG
15synaptic transmission, cholinergicGO:00072718.2CHRNA1, CHRND, CHRNG, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.7CHRNA1, CHRNG
2acetylcholine bindingGO:00421669.0CHRNA1, CHRND, CHRNG
3acetylcholine-gated cation-selective channel activityGO:00228489.0CHRNA1, CHRND, CHRNG
4extracellular ligand-gated ion channel activityGO:00052308.9CHRNA1, CHRND, CHRNG
5ligand-gated ion channel activityGO:00152768.5CHRNA1, CHRND, CHRNG

Sources for Fetal Akinesia Deformation Sequence

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet