MCID: CNG506
MIFTS: 26

Congenital Amyoplasia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Amyoplasia

MalaCards integrated aliases for Congenital Amyoplasia:

Name: Congenital Amyoplasia 59
Amyoplasia Congenita 59
Arthrogryposis 72

Classifications:



External Ids:

Orphanet 59 ORPHA488586
UMLS 72 C0003886

Summaries for Congenital Amyoplasia

MalaCards based summary : Congenital Amyoplasia, also known as amyoplasia congenita, is related to distal arthrogryposis and intestinal atresia, and has symptoms including muscle weakness, arthralgia and myalgia. The drugs Adenosine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and bone.

Related Diseases for Congenital Amyoplasia

Diseases related to Congenital Amyoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 10.5
2 intestinal atresia 10.3
3 alkuraya-kucinskas syndrome 10.2
4 contractural arachnodactyly, congenital 10.2
5 hyperostosis frontalis interna 10.2
6 leigh syndrome 10.2
7 hyperostosis 10.2
8 gastroenteritis 10.2
9 mitochondrial disorders 10.2
10 congenital articular rigidity 10.2
11 leptin deficiency or dysfunction 10.0
12 hypotonia 10.0

Graphical network of the top 20 diseases related to Congenital Amyoplasia:



Diseases related to Congenital Amyoplasia

Symptoms & Phenotypes for Congenital Amyoplasia

UMLS symptoms related to Congenital Amyoplasia:


muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Congenital Amyoplasia

Drugs for Congenital Amyoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Neurotransmitter Agents
3 Analgesics
4 Peripheral Nervous System Agents
5 Purinergic P1 Receptor Agonists
6 Anti-Arrhythmia Agents
7 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
2 WREX Outcome Study Unknown status NCT02218593
3 An Innovative Device for Intervention in Infants With Nervous System Injury Completed NCT01959581
4 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
6 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475

Search NIH Clinical Center for Congenital Amyoplasia

Genetic Tests for Congenital Amyoplasia

Anatomical Context for Congenital Amyoplasia

MalaCards organs/tissues related to Congenital Amyoplasia:

41
Brain, Skeletal Muscle, Bone, Skin, Liver, Spinal Cord, Testes

Publications for Congenital Amyoplasia

Articles related to Congenital Amyoplasia:

(show top 50) (show all 1941)
# Title Authors PMID Year
1
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. 38
31070086 2019
2
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. 38
30327447 2019
3
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. 38
31264822 2019
4
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 38
31408229 2019
5
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. 38
31218730 2019
6
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. 38
31410997 2019
7
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. 38
31368648 2019
8
Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis. 38
30672764 2019
9
A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome. 38
31343487 2019
10
Rehabilitation across the lifespan for individuals with arthrogryposis. 38
31397084 2019
11
Gene ontology analysis of arthrogryposis (multiple congenital contractures). 38
31369690 2019
12
A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). 38
31373772 2019
13
Classification of arthrogryposis. 38
31271512 2019
14
Fetal cervical hyperextension in arthrogryposis. 38
31350810 2019
15
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 38
31356505 2019
16
Characterization of Hand Anomalies Associated With Möbius Syndrome. 38
31031024 2019
17
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 38
31059209 2019
18
Treatment and outcomes of arthrogryposis in the upper extremity. 38
31268234 2019
19
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. 38
31318155 2019
20
The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study. 38
31260181 2019
21
Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review. 38
31350946 2019
22
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. 38
31230720 2019
23
Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review. 38
31347265 2019
24
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. 38
31282072 2019
25
Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita. 38
31359604 2019
26
Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry. 38
31359631 2019
27
Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care. 38
31260186 2019
28
Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. 38
31305362 2019
29
Effects of Abnormal Muscle Forces on Prenatal Joint Morphogenesis in Mice. 38
31297860 2019
30
Descriptive study of suspected congenital Zika syndrome cases during the 2015-2016 epidemic in Brazil. 38
31340371 2019
31
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 38
30938034 2019
32
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 38
30410095 2019
33
Disease coding systems for arthrogryposis multiplex congenita. 38
31232506 2019
34
Elbow Flexion Assist Orthosis for Arthrogryposis. 38
31374678 2019
35
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. 38
30868735 2019
36
Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. 38
31312267 2019
37
New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis. 38
30357652 2019
38
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 38
31206972 2019
39
Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment. 38
31232529 2019
40
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review. 38
30941898 2019
41
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. 38
30838783 2019
42
SYNE1-ataxia: Novel genotypic and phenotypic findings. 38
30573412 2019
43
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. 38
31103315 2019
44
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. 38
31240160 2019
45
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease. 38
31092635 2019
46
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 38
30988732 2019
47
Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population. 38
31105263 2019
48
[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis]. 38
31030430 2019
49
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. 38
31099966 2019
50
Summary of the 3rd international symposium on arthrogryposis. 38
31120641 2019

Variations for Congenital Amyoplasia

Expression for Congenital Amyoplasia

Search GEO for disease gene expression data for Congenital Amyoplasia.

Pathways for Congenital Amyoplasia

GO Terms for Congenital Amyoplasia

Sources for Congenital Amyoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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