FADS
MCID: FTL009
MIFTS: 56

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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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 based summary: Fetal Akinesia Deformation Sequence, also known as arthrogryposis multiplex congenita with pulmonary hypoplasia, is related to myopathy and arthrogryposis multiplex congenita pulmonary hypoplasia, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, arthrogryposis and absence of palmar creases. 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...

Descriptions from OMIM:46 208150,300073

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Fetal Akinesia Deformation Sequence, Aliases & Descriptions:

Name: Fetal Akinesia Deformation Sequence 42 46 48 62
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 42 62
Pena-Shokeir Syndrome, Type 1 42 22
Fads 42 48
 
Arthrogryposis Multiplex Congenita - Pulmonary Hypoplasia 48
Pena-Shokeir Syndrome Type I 62
Pena-Shokeir Syndrome Type 1 48
Fetal Akinesia Sequence 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 Q87.8
ICD1025 Q74.3

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/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.0CHRND, DOK7, RAPSN
2arthrogryposis multiplex congenita pulmonary hypoplasia10.7
3rapsn-related fetal akinesia deformation sequence10.5
4dok7-related fetal akinesia deformation sequence10.5
5lissencephaly type 3 - familial fetal akinesia sequence10.4
6neuroaxonal dystrophy10.3
7hydranencephaly10.3
8distal arthrogryposis10.3
9oligohydramnios10.3
10pterygium10.3
11polymicrogyria10.3
12neuronitis10.3
13lissencephaly10.2
14nemaline myopathy10.2
15fetal edema10.2
16alzheimer's disease10.2
17artery disease10.1
18choroideremia10.1
19glutaric acidemia type ii10.1
20paraneoplastic syndromes10.1
21myasthenia gravis10.1RAPSN, CHRNA1
22congenital myasthenic syndrome10.1CHRNA1, CHRNG
23congenital methemoglobinemia10.0
24diabetes mellitus10.0
25dilated cardiomyopathy10.0
26type 2 diabetes mellitus10.0
27antley-bixler syndrome10.0
28patellofemoral pain syndrome10.0
29cadasil10.0
30diabetic macular edema10.0
31tabes dorsalis10.0
32maturity-onset diabetes of the young10.0
33l-2-hydroxyglutaric aciduria10.0
34methemoglobinemia10.0
35ariboflavinosis10.0
36cerebritis10.0
37acute myocarditis10.0
38colon cancer10.0
39conjunctivitis10.0
40myocarditis10.0
41pneumonia10.0
42thyroid cancer10.0
43thyroiditis10.0
44venous insufficiency10.0
45myotonic dystrophy10.0
46klebsiella10.0
47stenotrophomonas maltophilia10.0
48riboflavin deficiency10.0
49myasthenic syndrome, fast-channel congenital9.9CHRND, CHRNA1
50slow-channel congenital myasthenic syndrome9.9CHRNA1, CHRND

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:

208150,300073

Symptoms:

48 (show all 26)
  • micrognathia/retrognathia/micrognathism/retrognathism
  • 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
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • 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

HPO human phenotypes related to Fetal Akinesia Deformation Sequence:

(show all 60)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 limitation of joint mobility hallmark (90%) HP:0001376
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 prenatal movement abnormality hallmark (90%) HP:0001557
5 talipes hallmark (90%) HP:0001883
6 respiratory insufficiency hallmark (90%) HP:0002093
7 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
8 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
9 absent palmar crease hallmark (90%) HP:0010489
10 abnormality of movement hallmark (90%) HP:0100022
11 camptodactyly of finger hallmark (90%) HP:0100490
12 cryptorchidism typical (50%) HP:0000028
13 cleft palate typical (50%) HP:0000175
14 hypertelorism typical (50%) HP:0000316
15 low-set, posteriorly rotated ears typical (50%) HP:0000368
16 cystic hygroma typical (50%) HP:0000476
17 polyhydramnios typical (50%) HP:0001561
18 scoliosis typical (50%) HP:0002650
19 amyotrophy typical (50%) HP:0003202
20 depressed nasal bridge typical (50%) HP:0005280
21 pterygium occasional (7.5%) HP:0001059
22 dandy-walker malformation occasional (7.5%) HP:0001305
23 autosomal recessive inheritance HP:0000007
24 cryptorchidism HP:0000028
25 narrow mouth HP:0000160
26 cleft palate HP:0000175
27 high palate HP:0000218
28 hydrocephalus HP:0000238
29 hypertelorism HP:0000316
30 long philtrum HP:0000343
31 micrognathia HP:0000347
32 posteriorly rotated ears HP:0000358
33 depressed nasal tip HP:0000437
34 short neck HP:0000470
35 telecanthus HP:0000506
36 ptosis HP:0000508
37 proptosis HP:0000520
38 blepharophimosis HP:0000581
39 thin ribs HP:0000883
40 ulnar deviation of the hand or of fingers of the hand HP:0001193
41 short umbilical cord HP:0001196
42 cerebellar hypoplasia HP:0001321
43 absent septum pellucidum HP:0001331
44 abnormality of the abdomen HP:0001438
45 intrauterine growth retardation HP:0001511
46 small for gestational age HP:0001518
47 polyhydramnios HP:0001561
48 premature birth HP:0001622
49 talipes equinovarus HP:0001762
50 rocker bottom foot HP:0001838
51 pulmonary hypoplasia HP:0002089
52 cavum septum pellucidum HP:0002389
53 abnormality of pelvic girdle bone morphology HP:0002644
54 elbow ankylosis HP:0003070
55 slender long bone HP:0003100
56 generalized amyotrophy HP:0003700
57 thoracic hypoplasia HP:0005257
58 small placenta HP:0006266
59 short palpebral fissure HP:0012745
60 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:

32
Lung, Testes, Skeletal muscle, Bone, Brain

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

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MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

36
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 29)
idTitleAuthorsYear
1
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. (25045026)
2014
2
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. (22765395)
2013
3
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (22482962)
2012
4
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
5
Fetal akinesia deformation sequence. Case report. (20212403)
2010
6
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. (20235854)
2010
7
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)
2009
8
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
9
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
2009
10
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)
2008
11
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. (17130047)
2006
12
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. (16147849)
2005
13
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. (15192292)
2004
14
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. (12795555)
2003
15
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
16
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
2002
17
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. (11810649)
2002
18
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
2001
19
Fetal akinesia deformation sequence in a highly developed acardius twin. (9354846)
1997
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

Variations for Fetal Akinesia Deformation Sequence

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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:

6
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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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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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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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Fetal Akinesia Deformation Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 50 28 24 1112.7RAPSN, CHRND, CHRNA1
2galantamine44 50 1110.2CHRNG, 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/GeneDecks:

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

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:0509059.2CHRNA1, CHRND
5cation transportGO:0068129.0CHRNA1, CHRND
6muscle contractionGO:0069368.7CHRNG, CHRND
7regulation of membrane potentialGO:0423918.7CHRNG, CHRND, CHRNA1
8transportGO:0068108.6CHRNG, CHRND, CHRNA1
9signal transductionGO:0071658.5CHRNG, CHRND, CHRNA1
10synaptic transmissionGO:0072688.3CHRNA1, CHRND, CHRNG, RAPSN

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet