MCID: CNG506
MIFTS: 25

Congenital Amyoplasia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Amyoplasia

MalaCards integrated aliases for Congenital Amyoplasia:

Name: Congenital Amyoplasia 58
Amyoplasia Congenita 58
Arthrogryposis 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA488586
UMLS 71 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 Analgesics 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Analgesics
3 Anti-Arrhythmia Agents
4 Neurotransmitter Agents
5 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:

40
Brain, Skeletal Muscle, Bone, Skin, Liver, Spinal Cord, Testes

Publications for Congenital Amyoplasia

Articles related to Congenital Amyoplasia:

(show top 50) (show all 1976)
# Title Authors PMID Year
1
Cerebral Palsy in Children With Congenital Zika Syndrome: A 2-Year Neurodevelopmental Follow-up. 61
31718421 2020
2
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
3
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers. 61
31463586 2020
4
Patient-reported Outcomes in Arthrogryposis. 61
32040062 2020
5
Orthopaedic care of the child with arthrogryposis: a 2020 overview. 61
31743218 2020
6
The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis. 61
32032217 2020
7
Body wall defects and amniotic band syndrome in pig (Sus scrofa domesticus). 61
31513296 2020
8
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
9
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 61
31960134 2020
10
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. 61
31746383 2020
11
Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. 61
31305362 2020
12
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61
31880396 2019
13
Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series. 61
31891236 2019
14
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019
15
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. 61
31791363 2019
16
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 61
31504653 2019
17
[THE CONGENITAL TRIGGER THUMB - CLINICAL PRESENTATION AND TREATMENT]. 61
31823534 2019
18
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. 61
31479177 2019
19
Expanding the clinical and molecular spectrum of Lethal Congenital Contracture Syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2019
20
Arthrogryposis. 61
31787162 2019
21
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 61
31206972 2019
22
Host and viral mechanisms of congenital Zika syndrome. 61
31451049 2019
23
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. 61
31070086 2019
24
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. 61
31932168 2019
25
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. 61
31777725 2019
26
The genomic and clinical landscape of fetal akinesia. 61
31680123 2019
27
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 61
31356505 2019
28
Subclinical in utero Zika virus infection is associated with interferon alpha sequelae and sex-specific molecular brain pathology in asymptomatic porcine offspring. 61
31725819 2019
29
Diaphragmatic paralysis: Evaluation in infants with congenital Zika syndrome. 61
31595718 2019
30
Effects of Abnormal Muscle Forces on Prenatal Joint Morphogenesis in Mice. 61
31297860 2019
31
Nerve transfer from the median to musculocutaneous nerve to induce active elbow flexion in selected cases of arthrogryposis multiplex congenita. 61
30891796 2019
32
Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome. 61
31770315 2019
33
Novel SPEG variant cause centronuclear myopathy in China. 61
31625632 2019
34
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. 61
31495489 2019
35
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 61
31660661 2019
36
The Effects of Age on the Outcomes of Elbow Release in Arthrogryposis. 61
30660396 2019
37
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. 61
30327447 2019
38
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. 61
30244176 2019
39
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. 61
31368648 2019
40
Classification of arthrogryposis. 61
31271512 2019
41
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. 61
31410997 2019
42
Fetal cervical hyperextension in arthrogryposis. 61
31350810 2019
43
Disease coding systems for arthrogryposis multiplex congenita. 61
31232506 2019
44
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. 61
31513940 2019
45
Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment. 61
31232529 2019
46
The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study. 61
31260181 2019
47
Arthrogryposis multiplex congenita definition: Update using an international consensus-based approach. 61
31452331 2019
48
Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review. 61
31347265 2019
49
Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review. 61
31350946 2019
50
Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita. 61
31359604 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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