FADS
MCID: FTL009
MIFTS: 47

Fetal Akinesia Deformation Sequence (FADS) malady

Respiratory diseases, Fetal diseases categories

Summaries for Fetal Akinesia Deformation Sequence

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 cystic hygroma, scoliosis and undescended/ectopic testes/cryptorchidia/unfixed testes. 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 CREB Pathway. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include lung and testes, and related mouse phenotypes are respiratory system and nervous system.

Wikipedia:63 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Description from OMIM:46 208150,300073

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
fetal akinesia deformation sequence:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fetal akinesia deformation sequence 42 46 48
pena-shokeir syndrome, type 1 42 22
fads 42 48
arthrogryposis multiplex congenita with pulmonary hypoplasia 42
arthrogryposis multiplex congenita - pulmonary hypoplasia 48
pena-shokeir syndrome type i 60
pena-shokeir syndrome type 1 48
fetal akinesia sequence 42


External Ids:

ICD10 via Orphanet26 Q87.8

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.3RAPSN, DOK7, CHRND
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 sequence10.3
6distal arthrogryposis10.3
7neuroaxonal dystrophy10.3
8hydranencephaly10.3
9oligohydramnios10.3
10pterygium10.3
11polymicrogyria10.3
12neuronitis10.2
13nemaline myopathy10.2
14lissencephaly10.2
15alzheimer's disease10.1
16coronary artery disease10.1
17choroideremia10.1
18myasthenia gravis10.0RAPSN, CHRNA1
19myasthenic syndrome, fast-channel congenital10.0CHRNA1, CHRND
20slow-channel congenital myasthenic syndrome10.0CHRND, CHRNA1
21cystic lymphangioma10.0CHRNG, CHRND
22neuropathy10.0DOK7, CHRND, RAPSN
23multiple pterygium syndrome lethal type10.0CHRNG, CHRND, CHRNA1
24congenital myasthenic syndrome10.0RAPSN, CHRNA1, DOK7, CHRND
25congenital methemoglobinemia9.9
26patellofemoral pain syndrome9.9
27tabes dorsalis9.9
28cerebritis9.9
29antley-bixler syndrome9.9
30maturity-onset diabetes of the young9.9
31l-2-hydroxyglutaric aciduria9.9
32cadasil9.9
33methemoglobinemia9.9
34diabetic macular edema9.9
35cerebral amyloid angiopathy9.9
36acute myocarditis9.9
37breast cancer9.9
38chromosomal disease9.9
39colon cancer9.9
40conjunctivitis9.9
41diabetes mellitus9.9
42dilated cardiomyopathy9.9
43myocarditis9.9
44myotonic dystrophy9.9
45pneumonia9.9
46thyroid cancer9.9
47thyroiditis9.9
48type 2 diabetes mellitus9.9
49venous insufficiency9.9
50neurologic diseases9.9

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



Diseases related to fetal akinesia deformation sequence

Clinical Features for Fetal Akinesia Deformation Sequence

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

208150,300073

Clinical synopsis from OMIM:

208150

Symptoms:

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

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Fetal Akinesia Deformation Sequence

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

32
Lung, Testes

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7RAPSN, CHRNG, DOK7
2MP:00036317.9RAPSN, CHRNA1, CHRNG, DOK7

Publications for Fetal Akinesia Deformation Sequence

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Genetic Variations for Fetal Akinesia Deformation Sequence

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fetal Akinesia Deformation Sequence:

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

Expression for genes affiliated with Fetal Akinesia Deformation Sequence

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1BioGPS, 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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51QIAGEN, 53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Fetal Akinesia Deformation Sequence

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 49 28 11 2412.9RAPSN, CHRND, CHRNA1
2galantamine44 49 1110.2CHRND, CHRNA1, CHRNG

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, CHRNA1, DOK7
2acetylcholine-gated channel complexGO:0058928.5CHRNG, CHRNA1, CHRND
3postsynaptic membraneGO:0452118.0CHRNG, CHRNA1, CHRND, RAPSN
4cell junctionGO:0300547.6RAPSN, CHRND, CHRNA1, CHRNG, DOK7
5plasma membraneGO:0058867.5CHRNG, CHRNA1, CHRND, RAPSN, DOK7

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:0486309.5CHRND, CHRNA1
2musculoskeletal movementGO:0508819.4CHRND, CHRNA1
3neuromuscular processGO:0509059.4CHRNA1, CHRND
4neuromuscular junction developmentGO:0075289.3DOK7, CHRNA1
5muscle contractionGO:0069368.7CHRND, CHRNG
6regulation of membrane potentialGO:0423918.7CHRND, CHRNA1, CHRNG
7transportGO:0068108.5CHRND, CHRNA1, CHRNG
8signal transductionGO:0071658.5CHRND, CHRNA1, CHRNG
9synaptic transmissionGO:0072688.2CHRNG, CHRNA1, CHRND, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.1CHRNA1, CHRNG
2acetylcholine bindingGO:0421669.0CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:0048898.4CHRND, CHRNA1, CHRNG

Products for genes affiliated with Fetal Akinesia Deformation Sequence

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fetal Akinesia Deformation Sequence

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet