MCID: FTL009
MIFTS: 48

Fetal Akinesia Deformation Sequence malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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Fetal Akinesia Deformation Sequence, Aliases & Descriptions:

Name: Fetal Akinesia Deformation Sequence 45 10 41
Pena-Shokeir Syndrome, Type 1 41 22
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 41
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 41
Arthrogryposis Multiplex Congenita - Pulmonary Hypoplasia 41
 
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 41
Pena-Shokeir Syndrome Type I 60
Pena-Shokeir Syndrome Type 1 41
Fetal Akinesia Sequence 41
Fads 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 208150

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:41 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 pena-shokeir syndrome, type 1, is related to myopathy and multiple pterygium syndrome, lethal type, and has symptoms including autosomal recessive inheritance, cryptorchidism and narrow mouth. 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 Peptide ligand-binding receptors. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and placenta, and related mouse phenotypes are respiratory system and mortality/aging.

OMIM:45 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

Wikipedia:63 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:

Rapsn-Related Fetal Akinesia Deformation Sequence Dok7-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 57)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.0RAPSN, DOK7, CHRND
2multiple pterygium syndrome, lethal type29.8CHRNG, CHRND, CHRNA1
3rapsn-related fetal akinesia deformation sequence10.5
4dok7-related fetal akinesia deformation sequence10.5
5lissencephaly type 3 - familial fetal akinesia sequence10.4
6spondylospinal thoracic dysostosis10.4
7neuroaxonal dystrophy10.3
8hydranencephaly10.3
9distal arthrogryposis10.3
10oligohydramnios10.3
11polymicrogyria10.3
12neuronitis10.3
13cortical dysplasia, complex, with other brain malformations 210.2
14nemaline myopathy 910.2
15myopathy, congenital, compton-north10.2
16metatropic dysplasia10.2
17arthrogryposis, lethal, with anterior horn cell disease10.2
18nemaline myopathy10.2
19lissencephaly10.2
20fetal akinesia syndrome x-linked10.2
21fetal edema10.2
22morse-rawnsley-sargent syndrome10.2
23familial thoracic aortic aneurysm and dissection10.2
24choroideremia10.1
25coronary artery disease10.1
26artery disease10.1
27paraneoplastic syndromes10.1
28myasthenia gravis10.1CHRNA1, RAPSN
29congenital myasthenic syndrome10.1CHRNA1, CHRNG
30alzheimer disease10.0
31l-2-hydroxyglutaric aciduria10.0
32riboflavin deficiency10.0
33glutaric acidemia iic10.0
34congenital methemoglobinemia10.0
35dilated cardiomyopathy10.0
36methemoglobinemia10.0
37diabetic macular edema10.0
38ariboflavinosis10.0
39tabes dorsalis10.0
40cerebritis10.0
41antley-bixler syndrome10.0
42maturity-onset diabetes of the young10.0
43cadasil10.0
44patellofemoral pain syndrome10.0
45acute myocarditis10.0
46conjunctivitis10.0
47myocarditis10.0
48pneumonia10.0
49thyroid cancer10.0
50thyroiditis10.0

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

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

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Drug clinical trials:

Search ClinicalTrials for Fetal Akinesia Deformation Sequence

Search 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 I22

Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6CHRNG, DOK7, RAPSN
2MP:00107688.4RAPSN, DOK7, CHRNG, CHRNA1
3MP:00036318.3RAPSN, DOK7, CHRNG, CHRNA1

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

62
id Symbol AA change Variation ID SNP ID
1RAPSNp.Phe139SerVAR_043899
2RAPSNp.Ala189ValVAR_043902

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

6
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
2RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenic
3RAPSNNM_005055.4(RAPSN): c.416T> C (p.Phe139Ser)single nucleotide variantPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
4RAPSNNM_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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Pathways related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RAPSN, CHRNA1
2
Show member pathways
8.5CHRNG, CHRND, CHRNA1
3
Show member pathways
8.5CHRNA1, CHRND, CHRNG
4
Show member pathways
8.5CHRNA1, CHRND, CHRNG
5
Show member pathways
8.5CHRNA1, CHRND, CHRNG
6
Show member pathways
8.5CHRNG, CHRND, CHRNA1

Compounds for genes affiliated with Fetal Akinesia Deformation Sequence

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Sources:
43Novoseek, 49PharmGKB, 28IUPHAR, 24HMDB, 12DrugBank
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Compounds related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1acetylcholine43 49 28 24 1212.7RAPSN, CHRND, CHRNA1
2galantamine43 49 1210.2CHRNG, CHRND, CHRNA1

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:00315948.7RAPSN, DOK7, CHRNA1
2acetylcholine-gated channel complexGO:00058928.5CHRNA1, CHRND, CHRNG
3plasma membraneGO:00058868.0DOK7, CHRNG, CHRND, CHRNA1
4postsynaptic membraneGO:00452118.0CHRNA1, CHRND, CHRNG, RAPSN
5cell junctionGO:00300547.6RAPSN, DOK7, CHRNG, CHRND, CHRNA1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular junction developmentGO:00075289.4DOK7, CHRNA1
2skeletal muscle tissue growthGO:00486309.3CHRND, CHRNA1
3musculoskeletal movementGO:00508819.3CHRND, CHRNA1
4neuromuscular processGO:00509059.2CHRNA1, CHRND
5cation transportGO:00068129.0CHRNA1, CHRND
6muscle contractionGO:00069368.7CHRNG, CHRND
7regulation of membrane potentialGO:00423918.7CHRNG, CHRND, CHRNA1
8transportGO:00068108.6CHRNG, CHRND, CHRNA1
9signal transductionGO:00071658.5CHRNG, CHRND, CHRNA1
10synaptic transmissionGO:00072688.3CHRNA1, CHRND, CHRNG, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.3CHRNG, CHRNA1
2acetylcholine bindingGO:00421668.8CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:00048898.4CHRNG, CHRND, CHRNA1

Products for genes affiliated with Fetal Akinesia Deformation Sequence

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Sources for Fetal Akinesia Deformation Sequence

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet