FADS
MCID: FTL009
MIFTS: 49

Fetal Akinesia Deformation Sequence (FADS) malady

Respiratory, Fetal categories

Summaries for Fetal Akinesia Deformation Sequence

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 arthrogryposis multiplex congenita pulmonary hypoplasia and rapsn-related fetal akinesia deformation sequence, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and autosomal recessive inheritance. 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 brain, lung and skeletal muscle, and related mouse phenotypes are respiratory system and nervous system.

Wikipedia:64 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Description from OMIM:47 208150,300073

Aliases & Classifications for Fetal Akinesia Deformation Sequence

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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 61
pena-shokeir syndrome type 1 49
fetal akinesia sequence 43


External Ids:

ICD10 via Orphanet26 Q87.8

Related Diseases for Fetal Akinesia Deformation Sequence

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fetal Akinesia Deformation Sequence via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis multiplex congenita pulmonary hypoplasia10.7
2rapsn-related fetal akinesia deformation sequence10.5
3dok7-related fetal akinesia deformation sequence10.5
4lissencephaly type 3 - familial fetal akinesia sequence10.4
5distal arthrogryposis10.3
6neuroaxonal dystrophy10.3
7n syndrome10.3
8hydranencephaly10.3
9polymicrogyria10.3
10myopathy congenital10.3
11nemaline myopathy10.2
12lissencephaly10.2
13fetal edema10.2
14coronary artery disease,10.1
15paraneoplastic syndromes10.1
16myasthenia gravis10.0RAPSN, CHRNA1
17myasthenic syndrome, fast-channel congenital10.0CHRNA1, CHRND
18slow-channel congenital myasthenic syndrome10.0CHRND, CHRNA1
19cystic lymphangioma10.0CHRNG, CHRND
20neuropathy10.0DOK7, CHRND, RAPSN
21multiple pterygium syndrome lethal type10.0CHRNG, CHRND, CHRNA1
22congenital myasthenic syndrome10.0RAPSN, CHRNA1, DOK7, CHRND
23myopathy10.0RAPSN, DOK7, CHRND
24congenital methemoglobinemia9.9
25patellofemoral pain syndrome9.9
26tabes dorsalis9.9
27antley-bixler syndrome9.9
28cadasil9.9
29methemoglobinemia9.9
30diabetic macular edema9.9
31alzheimer's disease9.9
32acute myocarditis9.9
33thyroid cancer9.9
34venous insufficiency9.9
35neurologic diseases9.9
36congenital myotonic dystrophy9.9
37glutaric acidemia type ii9.9
38klebsiella9.9
39stenotrophomonas maltophilia9.9
40mitochondrial cardiomyopathy9.9
41alzheimer disease-149.9
42glutaric acidemia iic9.9
43alzheimer disease 1, familial9.9
44lip disease9.9

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

208150,300073

Clinical synopsis from OMIM:

208150

Symptoms:

49 (show all 26)
  • hypertelorism
  • 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
  • stillbirth/neonatal death
  • arthrogryposis
  • intrauterine growth retardation
  • polyhydramnios
  • dandy-walker anomaly
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • fetal immobility/abnormal fetal movements
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • camptodactyly of fingers
  • pterygion
  • absence of palmar creases
  • short bowel

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fetal Akinesia Deformation Sequence

Drug clinical trials:

Search ClinicalTrials for Fetal Akinesia Deformation Sequence

Search NIH Clinical Center for Fetal Akinesia Deformation Sequence

Search CenterWatch for Fetal Akinesia Deformation Sequence

Genetic Tests for Fetal Akinesia Deformation Sequence

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

33
Brain, Lung, Skeletal muscle, Fetal brain, Fetal lung

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7RAPSN, CHRNG, DOK7
2MP:00036317.9RAPSN, CHRNA1, CHRNG, DOK7

Publications for Fetal Akinesia Deformation Sequence

Sources:
51PubMed
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Articles related to Fetal Akinesia Deformation Sequence:

(show all 29)
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
Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy. (7606895)
1995
20
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. (7484094)
1995
21
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). (8597848)
1995
22
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. (1615431)
1992
23
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
24
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
25
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
1991
26
The fetal akinesia deformation sequence. A fetopathological approach. (2222918)
1990
27
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. (3278614)
1988
28
Fetal akinesia deformation sequence in previable fetuses. (3344777)
1988
29
Fetal akinesia deformation sequence: an animal model. (6685864)
1983

Genetic Variations for Fetal Akinesia Deformation Sequence

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Fetal Akinesia Deformation Sequence:

63
id Symbol AA change Variation SNP ID
1RAPSNp.Phe139SerVAR_043899
2RAPSNp.Ala189ValVAR_043902

Expression for genes affiliated with Fetal Akinesia Deformation Sequence

Sources:
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

Sources:
52QIAGEN, 54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Fetal Akinesia Deformation Sequence

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 50 29 11 2412.9RAPSN, CHRND, CHRNA1
2galantamine45 50 1110.2CHRND, CHRNA1, CHRNG

GO Terms for genes affiliated with Fetal Akinesia Deformation Sequence

Sources:
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:0058928.5CHRNA1, CHRNG, CHRND
3postsynaptic membraneGO:0452118.0RAPSN, CHRND, CHRNA1, CHRNG
4cell junctionGO:0300547.6CHRNA1, CHRND, RAPSN, CHRNG, DOK7
5plasma membraneGO:0058867.5DOK7, CHRNG, CHRNA1, CHRND, RAPSN

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fetal Akinesia Deformation Sequence

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet