MCID: FTL009
MIFTS: 48

Fetal Akinesia Deformation Sequence malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence

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Aliases & Descriptions for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 49 11 45 67
Fetal Akinesia Sequence 45 67 24
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 45 67
Pena-Shokeir Syndrome Type 1 67 24
Fads 45 67
 
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 45
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 45
Pena-Shokeir Syndrome, Type 1 45
Pena-Shokeir Syndrome Type I 65

Characteristics:

HPO:

61
fetal akinesia deformation sequence:
Mortality/Aging: stillbirth
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 208150
MedGen34 C1276035
UMLS65 C1276035

Summaries for Fetal Akinesia Deformation Sequence

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NIH Rare Diseases:45 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 camptodactyly of finger, short palpebral fissure and small placenta. 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 prostate, and related mouse phenotypes are respiratory system and muscle.

OMIM:49 The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of... (208150) more...

UniProtKB/Swiss-Prot:67 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:68 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 66)
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
5alzheimer disease10.9
6familial thoracic aortic aneurysm and dissection10.1
7myasthenic syndrome, congenital, 4b, fast-channel10.1CHRNB1, RAPSN
8neuronitis10.1
9distal arthrogryposis10.0
10congenital myopathy10.0
11oligohydramnios10.0
12neuroaxonal dystrophy10.0
13myopathy10.0
14hydranencephaly10.0
15polymicrogyria10.0
16tubulinopathies10.0
17microlissencephaly10.0
18myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.0CHRNB1, RAPSN
19myasthenic syndrome, congenital, 3b, fast-channel10.0CHRNB1, CHRND
20riboflavin deficiency9.9
21ariboflavinosis9.9
22phaeohyphomycosis9.9CHRNG, MUSK
23coronary artery disease9.9
24choroideremia9.9
25artery disease9.9
26paraneoplastic syndromes9.9
27leukemia, chronic lymphocytic 19.9CHRNB1, MUSK, RAPSN
28epileptic encephalopathy, early infantile, 259.8CHRNB1, MUSK, RAPSN
29gallbladder disease9.8DOK7, MUSK, RAPSN
30myasthenic syndrome, congenital, 3a, slow-channel9.7CHRNB1, CHRND
31l-2-hydroxyglutaric aciduria9.7
32congenital methemoglobinemia9.7
33dilated cardiomyopathy9.7
34antley-bixler syndrome9.7
35maturity-onset diabetes of the young9.7
36tabes dorsalis9.7
37venous insufficiency9.7
38methemoglobinemia9.7
39cadasil9.7
40patellofemoral pain syndrome9.7
41prostatitis9.7
42thyroid cancer9.7
43food allergy9.7
44cerebritis9.7
45acute myocarditis9.7
46pneumonia9.7
47conjunctivitis9.7
48thyroiditis9.7
49myocarditis9.7
50diabetic macular edema9.7

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

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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Anatomical Context for Fetal Akinesia Deformation Sequence

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MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

33
Lung, Bone, Prostate, Spinal cord, Placenta, Brain, Endothelial

Animal Models for Fetal Akinesia Deformation Sequence or affiliated genes

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MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9CHRNG, DOK7, MUSK, RAPSN
2MP:00053698.8CHRNG, 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 35)
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
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (25612909)
2015
4
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (26033833)
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
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (19645055)
2009
14
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). (19944545)
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
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. (12400062)
2002
21
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. (11857548)
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
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
29
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. (1891100)
1991
30
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. (1951430)
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
35

Variations for Fetal Akinesia Deformation Sequence

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

67
id Symbol AA change Variation ID SNP ID
1MUSKp.Ile575ThrVAR_072787
2RAPSNp.Phe139SerVAR_043899
3RAPSNp.Ala189ValVAR_043902

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
3MUSKMUSK, ILE575THRsingle nucleotide variantPathogenic
4RAPSNNM_005055.4(RAPSN): c.829A> G (p.Thr277Ala)single nucleotide variantLikely pathogenicrs863224911GRCh38Chr 11, 47441694: 47441694
5RAPSNRAPSN, 2-BP DEL, 1177AAdeletionPathogenic
6RAPSNNM_005055.4(RAPSN): c.416T> C (p.Phe139Ser)single nucleotide variantPathogenicrs121909256GRCh37Chr 11, 47469479: 47469479
7RAPSNNM_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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Biological processes related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:00068129.8CHRNA1, CHRND
2muscle contractionGO:00069369.7CHRNB1, CHRND
3synaptic transmissionGO:00072689.5CHRNA1, CHRND
4neuromuscular synaptic transmissionGO:00072749.3CHRNA1, CHRNB1, CHRND
5transportGO:00068108.9CHRNA1, CHRNB1, CHRND
6ion transportGO:00068118.8CHRNA1, CHRND, CHRNG
7cation transmembrane transportGO:00986558.3CHRNA1, CHRNB1, CHRND, CHRNG
8synaptic transmission, cholinergicGO:00072718.2CHRNA1, CHRNB1, CHRND, CHRNG
9signal transductionGO:00071658.0CHRNA1, CHRNB1, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.2CHRNB1, CHRNG
2extracellular ligand-gated ion channel activityGO:00052308.0CHRNA1, CHRNB1, CHRND, CHRNG
3acetylcholine receptor activityGO:00154647.9CHRNA1, CHRNB1, CHRND, CHRNG

Sources for Fetal Akinesia Deformation Sequence

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet