MCID: FTL009
MIFTS: 49

Fetal Akinesia Deformation Sequence 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 51 47 69 12
Fetal Akinesia Sequence 47 69 26
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 47 69
Pena-Shokeir Syndrome Type 1 69 26
Fads 47 69
 
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 47
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 47
Pena-Shokeir Syndrome, Type 1 47
Pena-Shokeir Syndrome Type I 67

Characteristics:

HPO:

63
fetal akinesia deformation sequence:
Mortality/Aging: stillbirth
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 208150
MedGen36 C1276035

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:47 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 muscle and respiratory system.

OMIM:51 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot:69 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:70 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 59)
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
6leukemia, chronic lymphocytic 110.1MUSK, RAPSN
7mitochondrial complex iii deficiency, nuclear type 210.0MUSK, RAPSN
8porencephaly10.0MUSK, RAPSN
9neuronitis9.9
10congenital myopathy9.9
11oligohydramnios9.9
12neuroaxonal dystrophy9.9
13myopathy9.9
14hydranencephaly9.9
15polymicrogyria9.9
16tubulinopathies9.9
17microlissencephaly9.9
18myasthenic syndrome, congenital, 1a, slow-channel9.9CHRNA1, CHRND
19myasthenic syndrome, congenital, 1b, fast-channel9.9CHRNA1, CHRND
20primary angle-closure glaucoma9.8CHRNG, MUSK
21occupational dermatitis9.8DOK7, MUSK, RAPSN
22congenital myasthenic syndrome associated with acetylcholine receptor deficiency9.8CHRNA1, CHRND
23hereditary night blindness9.8MUSK, RAPSN
24coronary artery disease9.7
25choroideremia9.7
26artery disease9.7
27paraneoplastic syndromes9.7
28gingival overgrowth9.6CHRND, CHRNG, DOK7
29alzheimer disease9.6
30l-2-hydroxyglutaric aciduria9.6
31congenital methemoglobinemia9.6
32dilated cardiomyopathy9.6
33maturity-onset diabetes of the young9.6
34tabes dorsalis9.6
35venous insufficiency9.6
36methemoglobinemia9.6
37cadasil9.6
38patellofemoral pain syndrome9.6
39prostatitis9.6
40thyroid cancer9.6
41food allergy9.6
42cerebritis9.6
43acute myocarditis9.6
44pneumonia9.6
45conjunctivitis9.6
46thyroiditis9.6
47myocarditis9.6
48diabetic macular edema9.6
49myotonic dystrophy9.6
50cardiomyopathy9.6

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

Human phenotypes related to Fetal Akinesia Deformation Sequence:

 63 (show all 39)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 HP:0000028
2 narrow mouth63 HP:0000160
3 cleft palate63 HP:0000175
4 high palate63 HP:0000218
5 hydrocephalus63 HP:0000238
6 hypertelorism63 HP:0000316
7 long philtrum63 HP:0000343
8 micrognathia63 HP:0000347
9 posteriorly rotated ears63 HP:0000358
10 depressed nasal tip63 HP:0000437
11 short neck63 HP:0000470
12 telecanthus63 HP:0000506
13 ptosis63 HP:0000508
14 proptosis63 HP:0000520
15 blepharophimosis63 HP:0000581
16 thin ribs63 HP:0000883
17 ulnar deviation of the hand or of fingers of the hand63 HP:0001193
18 short umbilical cord63 HP:0001196
19 cerebellar hypoplasia63 HP:0001321
20 absent septum pellucidum63 HP:0001331
21 abnormality of the abdomen63 HP:0001438
22 intrauterine growth retardation63 HP:0001511
23 small for gestational age63 HP:0001518
24 polyhydramnios63 HP:0001561
25 premature birth63 HP:0001622
26 talipes equinovarus63 HP:0001762
27 rocker bottom foot63 HP:0001838
28 fetal akinesia sequence63 HP:0001989
29 pulmonary hypoplasia63 HP:0002089
30 cavum septum pellucidum63 HP:0002389
31 abnormality of pelvic girdle bone morphology63 HP:0002644
32 arthrogryposis multiplex congenita63 HP:0002804
33 elbow ankylosis63 HP:0003070
34 slender long bone63 HP:0003100
35 generalized amyotrophy63 HP:0003700
36 thoracic hypoplasia63 HP:0005257
37 small placenta63 HP:0006266
38 short palpebral fissure63 HP:0012745
39 camptodactyly of finger63 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 I26
2 Fetal Akinesia Sequence26

Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1CHRNG, DOK7, MUSK, RAPSN
2MP:00053888.3CHRNG, DOK7, MUSK, RAPSN, TUBB2B
3MP:00107687.5CHRNA1, CHRNG, DOK7, MUSK, RAPSN, TUBB2B
4MP:00036317.5CHRNA1, CHRNG, DOK7, MUSK, RAPSN, TUBB2B

Publications for Fetal Akinesia Deformation Sequence

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Articles related to Fetal Akinesia Deformation Sequence:

(show all 35)
idTitleAuthorsYear
1
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. (26732629)
2016
2
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. (26825730)
2016
3
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
4
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (26033833)
2015
5
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (25612909)
2015
6
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (25537362)
2014
7
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. (25045026)
2014
8
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. (22765395)
2013
9
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (22482962)
2012
10
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
11
Fetal akinesia deformation sequence. Case report. (20212403)
2010
12
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. (20235854)
2010
13
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)
2009
14
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
2009
15
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
16
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)
2008
17
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. (17130047)
2006
18
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. (16147849)
2005
19
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. (15192292)
2004
20
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. (12795555)
2003
21
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
2002
22
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
23
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. (11810649)
2002
24
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
2001
25
Fetal akinesia deformation sequence in a highly developed acardius twin. (9354846)
1997
26
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. (7484094)
1995
27
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). (8597848)
1995
28
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. (1615431)
1992
29
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
1991
30
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
31
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
32
The fetal akinesia deformation sequence. A fetopathological approach. (2222918)
1990
33
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. (3278614)
1988
34
Fetal akinesia deformation sequence in previable fetuses. (3344777)
1988
35
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:

69
id Symbol AA change Variation ID SNP ID
1MUSKp.Ile575ThrVAR_072787rs751889864
2RAPSNp.Phe139SerVAR_043899rs121909256
3RAPSNp.Ala189ValVAR_043902rs121909257

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7DOK7, IVS3DS, G-T, +1SNVPathogenicChr na, -1: -1
2MUSKNM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs)duplicationPathogenicrs863223335GRCh37Chr 9, 113431224: 113431224
3MUSKNM_005592.3(MUSK): c.1724T> C (p.Ile575Thr)SNVPathogenicrs751889864GRCh37Chr 9, 113547944: 113547944
4RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)SNVPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631
5RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenicChr na, -1: -1
6RAPSNNM_005055.4(RAPSN): c.416T> C (p.Phe139Ser)SNVPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
7RAPSNNM_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:00315949.4CHRNA1, MUSK, RAPSN
2acetylcholine-gated channel complexGO:00058929.3CHRNA1, CHRND, CHRNG
3postsynaptic membraneGO:00452117.9CHRNA1, CHRND, CHRNG, MUSK, RAPSN
4cell junctionGO:00300547.6CHRNA1, 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:007134010.0MUSK, RAPSN
2neuromuscular processGO:00509059.9CHRNA1, CHRND
3musculoskeletal movementGO:00508819.9CHRNA1, CHRND
4skeletal muscle contractionGO:00030099.9CHRNA1, CHRND
5cation transportGO:00068129.9CHRNA1, CHRND
6neuromuscular junction developmentGO:00075289.8CHRNA1, MUSK
7skeletal muscle tissue growthGO:00486309.6CHRNA1, CHRND
8regulation of membrane potentialGO:00423919.4CHRNA1, CHRND
9neuromuscular synaptic transmissionGO:00072749.4CHRNA1, CHRND, CHRNG
10muscle contractionGO:00069369.3CHRND, CHRNG
11cation transmembrane transportGO:00986559.3CHRNA1, CHRND, CHRNG
12synaptic transmission, cholinergicGO:00072719.0CHRNA1, CHRND, CHRNG, RAPSN
13transportGO:00068108.8CHRNA1, CHRND, CHRNG
14chemical synaptic transmission, postsynapticGO:00995658.8CHRNA1, CHRND, CHRNG
15response to nicotineGO:00350948.5CHRNA1, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-activated cation-selective channel activityGO:00048899.1CHRNA1, CHRND, CHRNG
2acetylcholine receptor activityGO:00154649.0CHRNA1, CHRND, CHRNG
3acetylcholine bindingGO:00421668.9CHRNA1, CHRND, CHRNG
4ligand-gated ion channel activityGO:00152768.8CHRNA1, CHRND, CHRNG

Sources for Fetal Akinesia Deformation Sequence

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet