FADS
MCID: FTL009
MIFTS: 55

Fetal Akinesia Deformation Sequence (FADS) malady

Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases categories
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Summaries for Fetal Akinesia Deformation Sequence

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Fetal Akinesia Deformation Sequence, also known as pena-shokeir syndrome, type 1, is related to myopathy and arthrogryposis multiplex congenita pulmonary hypoplasia, and has symptoms including execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia, polyhydramnios and dandy-walker anomaly. 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, testes and skeletal muscle, and related mouse phenotypes are respiratory system and mortality/aging.

Wikipedia:65 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Description from OMIM:47 208150,300073

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fetal akinesia deformation sequence:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fetal akinesia deformation sequence 43 47 49
pena-shokeir syndrome, type 1 43 22
fads 43 49
arthrogryposis multiplex congenita with pulmonary hypoplasia 43
arthrogryposis multiplex congenita - pulmonary hypoplasia 49
pena-shokeir syndrome type i 62
pena-shokeir syndrome type 1 49
fetal akinesia sequence 43


External Ids:

ICD10 via Orphanet26 Q87.8
ICD1025 Q74.3

Related Diseases for Fetal Akinesia Deformation Sequence

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.3CHRND, DOK7, RAPSN
2arthrogryposis multiplex congenita pulmonary hypoplasia10.7
3rapsn-related fetal akinesia deformation sequence10.4
4dok7-related fetal akinesia deformation sequence10.4
5lissencephaly type 3 - familial fetal akinesia sequence10.4
6neuroaxonal dystrophy10.3
7hydranencephaly10.3
8distal arthrogryposis10.3
9oligohydramnios10.3
10pterygium10.3
11polymicrogyria10.3
12neuronitis10.2
13nemaline myopathy10.2
14lissencephaly10.2
15fetal edema10.2
16alzheimer's disease10.2
17coronary artery disease10.1
18artery disease10.1
19choroideremia10.1
20paraneoplastic syndromes10.1
21myasthenia gravis10.0RAPSN, CHRNA1
22congenital myasthenic syndrome10.0CHRNA1, CHRNG
23myasthenic syndrome, fast-channel congenital10.0CHRND, CHRNA1
24slow-channel congenital myasthenic syndrome10.0CHRNA1, CHRND
25congenital methemoglobinemia9.9
26methemoglobinemia9.9
27diabetic macular edema9.9
28tabes dorsalis9.9
29cerebritis9.9
30antley-bixler syndrome9.9
31maturity-onset diabetes of the young9.9
32l-2-hydroxyglutaric aciduria9.9
33cadasil9.9
34patellofemoral pain syndrome9.9
35acute myocarditis9.9
36colon cancer9.9
37conjunctivitis9.9
38diabetes mellitus9.9
39dilated cardiomyopathy9.9
40myocarditis9.9
41myotonic dystrophy9.9
42pneumonia9.9
43thyroid cancer9.9
44thyroiditis9.9
45type 2 diabetes mellitus9.9
46venous insufficiency9.9
47congenital myotonic dystrophy9.9
48glutaric acidemia type ii9.9
49klebsiella9.9
50paine syndrome9.9

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

208150

Clinical features from OMIM:

208150,300073

Symptoms:

49 (show all 26)
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • polyhydramnios
  • dandy-walker anomaly
  • fetal immobility/abnormal fetal movements
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • camptodactyly of fingers
  • pterygion
  • absence of palmar creases
  • short bowel
  • intrauterine growth retardation
  • arthrogryposis
  • stillbirth/neonatal death
  • low set ears/posteriorly rotated ears
  • autosomal recessive inheritance
  • scoliosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • depressed nasal bridge
  • restricted joint mobility/joint stiffness/ankylosis
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • x-linked recessive inheritance
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • talipes-varus/metatarsal varus
  • cystic hygroma
  • hypertelorism

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

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42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

33
Lung, Testes, Skeletal muscle, Bone, Brain

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

37
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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52PubMed
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Articles related to Fetal Akinesia Deformation Sequence:

(show all 28)
idTitleAuthorsYear
1
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. (22765395)
2013
2
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (22482962)
2012
3
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
4
Fetal akinesia deformation sequence. Case report. (20212403)
2010
5
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. (20235854)
2010
6
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)
2009
7
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
8
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
2009
9
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)
2008
10
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. (17130047)
2006
11
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. (16147849)
2005
12
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. (15192292)
2004
13
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. (12795555)
2003
14
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
15
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
2002
16
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. (11810649)
2002
17
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
2001
18
Fetal akinesia deformation sequence in a highly developed acardius twin. (9354846)
1997
19
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. (7484094)
1995
20
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). (8597848)
1995
21
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. (1615431)
1992
22
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
23
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
24
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
1991
25
The fetal akinesia deformation sequence. A fetopathological approach. (2222918)
1990
26
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. (3278614)
1988
27
Fetal akinesia deformation sequence in previable fetuses. (3344777)
1988
28
Fetal akinesia deformation sequence: an animal model. (6685864)
1983

Variations for Fetal Akinesia Deformation Sequence

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence:

64
id Symbol AA change Variation ID SNP ID
1RAPSNp.Phe139SerVAR_043899
2RAPSNp.Ala189ValVAR_043902

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fetal Akinesia Deformation Sequence

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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50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
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Pathways related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

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
58.5CHRNG, CHRND, CHRNA1
6
Show member pathways
8.5CHRNA1, CHRND, CHRNG
7
Show member pathways
8.5CHRNG, CHRND, CHRNA1

Compounds for genes affiliated with Fetal Akinesia Deformation Sequence

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45Novoseek, 51PharmGKB, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 51 29 24 1112.7RAPSN, CHRND, CHRNA1
2galantamine45 51 1110.2CHRNG, CHRND, CHRNA1

GO Terms for genes affiliated with Fetal Akinesia Deformation Sequence

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16Gene Ontology
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Cellular components related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315948.7RAPSN, DOK7, CHRNA1
2acetylcholine-gated channel complexGO:0058928.5CHRNG, CHRNA1, CHRND
3plasma membraneGO:0058868.0CHRNA1, CHRND, CHRNG, DOK7
4postsynaptic membraneGO:0452118.0RAPSN, CHRNG, CHRND, CHRNA1
5cell junctionGO:0300547.6CHRNG, CHRNA1, DOK7, RAPSN, CHRND

Biological processes related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular junction developmentGO:0075289.4DOK7, CHRNA1
2skeletal muscle tissue growthGO:0486309.3CHRND, CHRNA1
3musculoskeletal movementGO:0508819.3CHRND, CHRNA1
4neuromuscular processGO:0509059.2CHRND, CHRNA1
5cation transportGO:0068129.0CHRND, CHRNA1
6muscle contractionGO:0069368.7CHRNG, CHRND
7regulation of membrane potentialGO:0423918.7CHRNA1, CHRNG, CHRND
8transportGO:0068108.6CHRNG, CHRND, CHRNA1
9signal transductionGO:0071658.5CHRNG, CHRND, CHRNA1
10synaptic transmissionGO:0072688.3RAPSN, CHRNA1, CHRND, CHRNG

Molecular functions related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.3CHRNG, CHRNA1
2acetylcholine bindingGO:0421668.8CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:0048898.4CHRNG, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet