MCID: FTL009
MIFTS: 51

Fetal Akinesia Deformation Sequence malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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Aliases & Descriptions for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 50 46 68 12
Fetal Akinesia Sequence 46 68 25
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 46 68
Pena-Shokeir Syndrome Type 1 68 25
Fads 46 68
 
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 46
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 46
Pena-Shokeir Syndrome, Type 1 46
Pena-Shokeir Syndrome Type I 66

Characteristics:

HPO:

62
fetal akinesia deformation sequence:
Mortality/Aging: stillbirth
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 208150
MedGen35 C1276035

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:46 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 fetal akinesia sequence, is related to dok7-related fetal akinesia deformation sequence and rapsn-related fetal akinesia deformation sequence, and has symptoms including cryptorchidism, narrow mouth and cleft palate. An important gene associated with Fetal Akinesia Deformation Sequence is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include lung, bone and placenta, and related mouse phenotypes are muscle and respiratory system.

OMIM:50 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot:68 Fetal akinesia deformation sequence: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism.

Wikipedia:69 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:

Dok7-Related Fetal Akinesia Deformation Sequence Rapsn-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 69)
idRelated DiseaseScoreTop Affiliating Genes
1dok7-related fetal akinesia deformation sequence12.4
2rapsn-related fetal akinesia deformation sequence12.4
3lissencephaly type 3-familial fetal akinesia sequence syndrome12.2
4glutaric acidemia iic10.9
5early-onset, autosomal dominant alzheimer disease10.9
6myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.1CHRNB1, RAPSN
7neuronitis10.1
8porencephaly10.1MUSK, RAPSN
9myasthenic syndrome, congenital, 1a, slow-channel10.0CHRNA1, CHRND
10distal arthrogryposis10.0
11congenital myopathy10.0
12oligohydramnios10.0
13neuroaxonal dystrophy10.0
14myopathy10.0
15hydranencephaly10.0
16polymicrogyria10.0
17tubulinopathies10.0
18microlissencephaly10.0
19epileptic encephalopathy, early infantile, 2510.0CHRNB1, RAPSN
20myasthenic syndrome, congenital, 3b, fast-channel10.0CHRNB1, CHRND
21myasthenic syndrome, congenital, 1b, fast-channel10.0CHRNA1, CHRND
22riboflavin deficiency9.9
23ariboflavinosis9.9
24myasthenic syndrome, congenital, 3a, slow-channel9.9CHRNB1, CHRND
25coronary artery disease9.9
26choroideremia9.9
27artery disease9.9
28paraneoplastic syndromes9.9
29leukemia, chronic lymphocytic 19.9CHRNB1, MUSK, RAPSN
30mitochondrial complex iii deficiency, nuclear type 29.8CHRNB1, MUSK, RAPSN
31myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9.8CHRNB1, CHRND
32hereditary night blindness9.8MUSK, RAPSN
33alzheimer disease9.7
34l-2-hydroxyglutaric aciduria9.7
35congenital methemoglobinemia9.7
36dilated cardiomyopathy9.7
37antley-bixler syndrome9.7
38maturity-onset diabetes of the young9.7
39tabes dorsalis9.7
40venous insufficiency9.7
41methemoglobinemia9.7
42cadasil9.7
43patellofemoral pain syndrome9.7
44prostatitis9.7
45thyroid cancer9.7
46food allergy9.7
47cerebritis9.7
48acute myocarditis9.7
49pneumonia9.7
50conjunctivitis9.7

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 39)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 narrow mouth HP:0000160
3 cleft palate HP:0000175
4 high palate HP:0000218
5 hydrocephalus HP:0000238
6 hypertelorism HP:0000316
7 long philtrum HP:0000343
8 micrognathia HP:0000347
9 posteriorly rotated ears HP:0000358
10 depressed nasal tip HP:0000437
11 short neck HP:0000470
12 telecanthus HP:0000506
13 ptosis HP:0000508
14 proptosis HP:0000520
15 blepharophimosis HP:0000581
16 thin ribs HP:0000883
17 ulnar deviation of the hand or of fingers of the hand HP:0001193
18 short umbilical cord HP:0001196
19 cerebellar hypoplasia HP:0001321
20 absent septum pellucidum HP:0001331
21 abnormality of the abdomen HP:0001438
22 intrauterine growth retardation HP:0001511
23 small for gestational age HP:0001518
24 polyhydramnios HP:0001561
25 premature birth HP:0001622
26 talipes equinovarus HP:0001762
27 rocker bottom foot HP:0001838
28 fetal akinesia sequence HP:0001989
29 pulmonary hypoplasia HP:0002089
30 cavum septum pellucidum HP:0002389
31 abnormality of pelvic girdle bone morphology HP:0002644
32 arthrogryposis multiplex congenita HP:0002804
33 elbow ankylosis HP:0003070
34 slender long bone HP:0003100
35 generalized amyotrophy HP:0003700
36 thoracic hypoplasia HP:0005257
37 small placenta HP:0006266
38 short palpebral fissure HP:0012745
39 camptodactyly of finger HP:0100490

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

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Interventional clinical trials:

Search ClinicalTrials, 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 I25
2 Fetal Akinesia Sequence25

Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2CHRNG, DOK7, MUSK, RAPSN
2MP:00053889.2CHRNG, DOK7, MUSK, RAPSN
3MP:00036317.8CHRNA1, CHRNB1, CHRNG, DOK7, MUSK, RAPSN

Publications for Fetal Akinesia Deformation Sequence

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Articles related to Fetal Akinesia Deformation Sequence:

(show all 34)
idTitleAuthorsYear
1
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. (26732629)
2016
2
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. (26825730)
2016
3
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (26033833)
2015
4
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (25612909)
2015
5
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (25537362)
2014
6
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. (25045026)
2014
7
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. (22765395)
2013
8
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. (22482962)
2012
9
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. (19968489)
2010
10
Fetal akinesia deformation sequence. Case report. (20212403)
2010
11
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. (20235854)
2010
12
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)
2009
13
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
2009
14
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
15
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)
2008
16
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. (17130047)
2006
17
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. (16147849)
2005
18
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. (15192292)
2004
19
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. (12795555)
2003
20
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
2002
21
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
22
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. (11810649)
2002
23
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
2001
24
Fetal akinesia deformation sequence in a highly developed acardius twin. (9354846)
1997
25
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. (7484094)
1995
26
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). (8597848)
1995
27
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. (1615431)
1992
28
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
1991
29
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
30
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
31
The fetal akinesia deformation sequence. A fetopathological approach. (2222918)
1990
32
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. (3278614)
1988
33
Fetal akinesia deformation sequence in previable fetuses. (3344777)
1988
34
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:

68
id Symbol AA change Variation ID SNP ID
1MUSKp.Ile575ThrVAR_072787rs751889864
2RAPSNp.Phe139SerVAR_043899rs121909256
3RAPSNp.Ala189ValVAR_043902rs121909257

Clinvar genetic disease variations for Fetal Akinesia Deformation Sequence:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
2MUSKNM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs)duplicationPathogenicrs863223335GRCh37Chr 9, 113431224: 113431224
3MUSKNM_005592.3(MUSK): c.1724T> C (p.Ile575Thr)single nucleotide variantPathogenicrs751889864GRCh37Chr 9, 113547944: 113547944
4RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenic
5RAPSNNM_005055.4(RAPSN): c.416T> C (p.Phe139Ser)single nucleotide variantPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
6RAPSNNM_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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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:00315949.5CHRNA1, MUSK, RAPSN
2synapseGO:00452029.3CHRNB1, DOK7, RAPSN
3acetylcholine-gated channel complexGO:00058928.6CHRNA1, CHRNB1, CHRND, CHRNG
4postsynaptic membraneGO:00452117.6CHRNA1, CHRNB1, CHRND, CHRNG, MUSK, RAPSN
5plasma membraneGO:00058867.1CHRNA1, CHRNB1, CHRND, CHRNG, DOK7, RAPSN
6cell junctionGO:00300546.9CHRNA1, CHRNB1, CHRND, CHRNG, DOK7, MUSK

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle acetylcholine-gated channel clusteringGO:00713409.9MUSK, RAPSN
2neuromuscular junction developmentGO:00075289.7CHRNA1, MUSK
3neuromuscular processGO:00509059.6CHRNA1, CHRND
4musculoskeletal movementGO:00508819.6CHRNA1, CHRND
5skeletal muscle tissue growthGO:00486309.4CHRNA1, CHRND
6skeletal muscle contractionGO:00030099.1CHRNA1, CHRNB1, CHRND
7cation transportGO:00068129.0CHRNA1, CHRNB1, CHRND
8transportGO:00068108.9CHRNA1, CHRND, CHRNG
9muscle contractionGO:00069368.8CHRNB1, CHRND, CHRNG
10regulation of membrane potentialGO:00423918.8CHRNA1, CHRNB1, CHRND
11cation transmembrane transportGO:00986558.5CHRNA1, CHRNB1, CHRND, CHRNG
12neuromuscular synaptic transmissionGO:00072748.5CHRNA1, CHRNB1, CHRND, CHRNG
13response to nicotineGO:00350948.4CHRNA1, CHRND, CHRNG
14synaptic transmission, cholinergicGO:00072718.1CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN
15signal transductionGO:00071658.0CHRNA1, CHRNB1, CHRND, CHRNG
16chemical synaptic transmission, postsynapticGO:00995657.7CHRNA1, CHRNB1, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.7CHRNB1, CHRNG
2acetylcholine receptor activityGO:00154648.2CHRNA1, CHRNB1, CHRND, CHRNG
3acetylcholine-activated cation-selective channel activityGO:00048898.2CHRNA1, CHRNB1, CHRND, CHRNG
4acetylcholine bindingGO:00421668.1CHRNA1, CHRNB1, CHRND, CHRNG
5ligand-gated ion channel activityGO:00152768.0CHRNA1, CHRNB1, CHRND, CHRNG

Sources for Fetal Akinesia Deformation Sequence

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet