MCID: FTL009
MIFTS: 50

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 placenta, 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 60)
idRelated DiseaseScoreTop Affiliating Genes
1dok7-related fetal akinesia deformation sequence12.8
2rapsn-related fetal akinesia deformation sequence12.8
3lissencephaly type 3-familial fetal akinesia sequence syndrome12.6
4glutaric acidemia iic11.3
5alzheimer disease11.3
6familial thoracic aortic aneurysm and dissection10.5
7neuroblastoma10.3
8bacteremia10.3
9celiac disease10.3
10congenital heart block10.3
11insulinoma10.3
12leukemia10.3
13neutropenia10.3
14temporal lobe epilepsy10.3
15epidemic typhus10.3
16typhus10.3
17polydactyly10.3
18chancroid10.3
19chromoblastomycosis10.3
20cervicitis10.3
21papilloma10.3
22dermatitis10.3
23long qt syndrome10.3
24fibrosarcoma10.3
25turner syndrome10.3
26pancreatitis10.3
27dermatitis herpetiformis10.3
28zellweger syndrome10.3
29keratoconjunctivitis10.3
30horseshoe kidney10.3
31vernal keratoconjunctivitis10.3
32back pain10.3
33riboflavin deficiency10.3
34ariboflavinosis10.3
35prostate cancer10.2
36psoriatic arthritis10.2
37arthritis10.2
38prostatitis10.2
39endotheliitis10.2
40myasthenic syndrome, congenital, 4b, fast-channel10.1CHRNB1, RAPSN
41myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.0CHRNB1, RAPSN
42myasthenic syndrome, congenital, 3b, fast-channel10.0CHRNB1, CHRND
43phaeohyphomycosis9.9CHRNG, MUSK
44leukemia, chronic lymphocytic 19.9CHRNB1, MUSK, RAPSN
45epileptic encephalopathy, early infantile, 259.9CHRNB1, MUSK, RAPSN
46gallbladder disease9.9DOK7, MUSK, RAPSN
47myasthenic syndrome, congenital, 3a, slow-channel9.8CHRNB1, CHRND
48myasthenic syndrome, congenital, 1a, slow-channel9.8CHRNA1, CHRND
49myasthenic syndrome, congenital, 1b, fast-channel9.7CHRNA1, CHRND
50myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9.7CHRNB1, 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

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, Placenta, Brain, Spinal cord, T cells

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 32)
idTitleAuthorsYear
1
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. (25862795)
2015
2
Structural dynamics of V3 loop in a trimeric ambiance, a molecular dynamics study on gp120-CD4 trimeric mimic. (24583235)
2014
3
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. (24588059)
2014
4
Occult hepatitis B virus coinfection in HIV-positive African migrants to the UK: a point prevalence study. (24118868)
2013
5
Determination of ethyl glucuronide in nails by liquid chromatography tandem mass spectrometry as a potential new biomarker for chronic alcohol abuse and binge drinking behavior. (22193819)
2012
6
Spectroscopic and magnetic studies of wild-type and mutant forms of the Fe(II)- and 2-oxoglutarate-dependent decarboxylase ALKBH4. (21166655)
2011
7
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. (20553986)
2010
8
Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci. (20739824)
2010
9
The Case: Renal failure in a male with WaldenstrAPm's macroglobulinemia. (20118906)
2010
10
Incidence and risk factors for retinopathy of prematurity in very low and in extremely low birth weight infants in a unit-based approach in southern Brazil. (17618242)
2009
11
Importance of travel in domestically acquired typhoid fever infections: opportunities for prevention and early detection. (18509759)
2009
12
Venous function and pressure: what is their role in the management of spinal cord ischemia after thoracoabdominal aortic aneurysm repair? (18946312)
2008
13
Inhibitors of protein geranylgeranyltransferase I and Rab geranylgeranyltransferase identified from a library of allenoate-derived compounds. (18230616)
2008
14
The expression of hypoxia-inducible factor-1alpha in hepatitis B virus-related hepatocellular carcinoma: correlation with patients' prognosis and hepatitis B virus X protein. (18465238)
2008
15
Peripheral cannabinoids attenuate carcinoma-induced nociception in mice. (18242856)
2008
16
Focal segmental glomerulosclerosis: cellular variant and beyond. (17080157)
2006
17
Long-term survival of a patient with advanced adenosquamous carcinoma of the gallbladder after radical resection. (15868080)
2005
18
Coupling PAF signaling to dynein regulation: structure of LIS1 in complex with PAF-acetylhydrolase. (15572112)
2004
19
Defining the involvement of p38alpha MAPK in the production of anti- and proinflammatory cytokines using an SB 203580-resistant form of the kinase. (12637577)
2003
20
Expression of herpes simplex virus-thymidine kinase gene controlled by a promoter region of the midkine gene confers selective cytotoxicity to ganciclovir in human carcinoma cells. (11267987)
2001
21
CD40-ligand (CD154) gene therapy for chronic lymphocytic leukemia. (11049967)
2000
22
Phylogenetic analysis and trait evolution in Australian lineages of drywood termites (Isoptera, Kalotermitidae). (11133196)
2000
23
Recombinant human adenovirus: targeting to the human transferrin receptor improves gene transfer to brain microcapillary endothelium. (11070036)
2000
24
Pallister-Hall syndrome: clinical and MR features. (10588106)
1999
25
Stimulatory roles of muscarinic acetylcholine receptors on T cell antigen receptor/CD3 complex-mediated interleukin-2 production in human peripheral blood lymphocytes. (9187267)
1997
26
Expression of prolactin gene in incubating hens. (1899884)
1991
27
HIV-associated endometritis. (2500958)
1989
28
Basilar migraine with loss of consciousness in pregnancy. Case report. (2751966)
1989
29
Gliomatosis cerebri--report of a case. (4000710)
1985
30
Prolymphocytic leukemia. An ultrastructural study. (7355854)
1980
31
Early effects of hypervitaminosis A on hepatic gluconeogenesis. (735119)
1978
32

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