MCID: CNG065
MIFTS: 30

Congenital Contractures

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

MalaCards integrated aliases for Congenital Contractures:

Name: Congenital Contractures 50
Congenital Contracture 29

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures, also known as congenital contracture, is related to arthrogryposis, distal, type 2b and lethal congenital contracture syndrome 1. An important gene associated with Congenital Contractures is RYR1 (Ryanodine Receptor 1). The drugs Edetic Acid and Heparin have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and heart, and related phenotype is muscle.

Related Diseases for Congenital Contractures

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2b 30.4 NALCN RYR1 TNNT3
2 lethal congenital contracture syndrome 1 12.3
3 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.2
4 lethal congenital contractural syndrome 2 12.2
5 lethal congenital contractural syndrome 3 12.1
6 lethal congenital contracture syndrome 11 12.1
7 lethal congenital contracture syndrome 12.1
8 lethal congenital contracture syndrome 4 12.1
9 lethal congenital contracture syndrome 8 12.1
10 lethal congenital contracture syndrome 7 12.1
11 lethal congenital contracture syndrome 5 12.1
12 lethal congenital contracture syndrome 9 12.0
13 lethal congenital contracture syndrome 10 12.0
14 lethal congenital contracture syndrome 6 12.0
15 contractural arachnodactyly, congenital 11.7
16 van den ende-gupta syndrome 11.0
17 wieacker-wolff syndrome 11.0
18 marfan syndrome 11.0
19 spinal muscular atrophy, x-linked 2, infantile 10.8
20 ehlers-danlos syndrome, musculocontractural type 1 10.8
21 spinal muscular atrophy with congenital bone fractures 1 10.8
22 escobar syndrome 10.8
23 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.7
24 holoprosencephaly with fetal akinesia/hypokinesia sequence 10.7
25 miles-carpenter syndrome 10.7
26 intellectual disability-developmental delay-contractures syndrome 10.7
27 marden walker like syndrome 10.7
28 windblown hand 10.7
29 van den ende-gupta sndrome 10.7
30 rhizomelic chondrodysplasia punctata, type 2 10.6
31 rhizomelic chondrodysplasia punctata, type 3 10.6
32 nemaline myopathy 10 10.6
33 rhizomelic chondrodysplasia punctata, type 1 10.6
34 arthrogryposis, lethal, with anterior horn cell disease 10.6
35 muscular dystrophy-dystroglycanopathy , type a, 1 10.6
36 spinal muscular atrophy with congenital bone fractures 2 10.6
37 rhizomelic chondrodysplasia punctata, type 5 10.6
38 pontocerebellar hypoplasia type 1a 10.6
39 bruck syndrome 1 10.6
40 bruck syndrome 10.6
41 neurogenic arthrogryposis multiplex congenita 10.6
42 esophageal adenoid cystic carcinoma 10.2 UBA1 VRK1
43 mesomelic dysplasia, kantaputra type 10.1 CHRNG RYR1
44 nemaline myopathy 4, autosomal dominant 10.1 NALCN TNNT3
45 uterine corpus endometrial stromal sarcoma 10.1 LMOD3 RYR1
46 3p- syndrome 10.0 CHRNG RYR1
47 blepharophimosis 9.7
48 cerebritis 9.7
49 myopathy 9.7
50 muscular atrophy 9.7

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



Diseases related to Congenital Contractures

Symptoms & Phenotypes for Congenital Contractures

MGI Mouse Phenotypes related to Congenital Contractures:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 LMOD3 PLOD1 RYR1 TNNT3 CHRNG

Drugs & Therapeutics for Congenital Contractures

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
2
Heparin Approved, Investigational 9005-49-6 772 46507594
3
Menthol Approved 2216-51-5 16666
4
Acetylcholine Approved 51-84-3 187
5 Antibodies
6 Autoantibodies
7 calcium heparin
8 Immunoglobulins
9 Pentetic Acid
10 abobotulinumtoxinA
11 Botulinum Toxins
12 Botulinum Toxins, Type A
13 Cholinergic Agents
14 Neuromuscular Agents
15 Neurotransmitter Agents
16 onabotulinumtoxinA
17 Peripheral Nervous System Agents
18 Pharmaceutical Solutions

Interventional clinical trials:

(show all 16)

id Name Status NCT ID Phase Drugs
1 Silicone Gel to Improve Scar in Microtia Patients Recruiting NCT02518035 Phase 4 Silicone Gel
2 CPG Styles Study: A Study of the Safety of the Contour Profile Gel Breast Implants (CPG Styles Study) Completed NCT01959880 Phase 3
3 Core Gel Study of the Safety and Effectiveness of Mentor Round Low Bleed Silicone Gel-filled Mammary Prostheses Completed NCT00753922 Phase 3
4 Mentor Siltex® Contour Profile Gel Mammary Prosthesis Clinical Trial Completed NCT00812097 Phase 3
5 A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic Membrane Recruiting NCT02286427 Phase 3
6 The Improving Effect of Autologous Stromal Vascular Fraction (SVF) in Adipose Tissue on Skin Grafting Unknown status NCT02546882 Phase 1, Phase 2 saline
7 Prevention of Post-Stroke Hand/Wrist Flexion Deformity Completed NCT00628537 Phase 1
8 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140
9 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
10 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
11 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
12 Proof of Concept Study for a Dressing Glove Recruiting NCT03241628
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
14 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
15 Ankle Equinus Contracture Treated With Dynamic Splinting Terminated NCT01238484
16 The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Pilon Fractures Terminated NCT02051933 Botox;Placebo

Search NIH Clinical Center for Congenital Contractures

Genetic Tests for Congenital Contractures

Genetic tests related to Congenital Contractures:

id Genetic test Affiliating Genes
1 Congenital Contracture 29

Anatomical Context for Congenital Contractures

MalaCards organs/tissues related to Congenital Contractures:

39
Skin, Breast, Heart, Bone

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 132)
id Title Authors Year
1
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ( 28726266 )
2017
2
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
3
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
4
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
5
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
6
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
7
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
8
Aortic aneurysm in three siblings with multiple congenital contractures. ( 24977674 )
2014
9
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. ( 24704792 )
2014
10
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
11
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
12
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
13
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
14
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. ( 23808592 )
2013
15
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. ( 23296716 )
2013
16
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
17
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. ( 22888032 )
2012
18
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
19
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
20
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ( 20503305 )
2010
21
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. ( 21157886 )
2010
22
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
23
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
24
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. ( 18718019 )
2008
25
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
26
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
27
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
28
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
29
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3- kinase/Akt pathway. ( 17701904 )
2007
30
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
31
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
32
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
33
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
34
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
35
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
36
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
37
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
38
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
39
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
40
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )
2004
41
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
42
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003
43
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
44
Multiple congenital contractures (congenital multiple arthrogryposis). ( 11933662 )
2002
45
Multiple congenital contractures: birth prevalence, etiology, and outcome. ( 11815765 )
2002
46
Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? ( 12150211 )
2002
47
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
48
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
49
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
50
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ( 11400038 )
2001

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh38 Chromosome 19, 38499718: 38499718

Expression for Congenital Contractures

Search GEO for disease gene expression data for Congenital Contractures.

Pathways for Congenital Contractures

GO Terms for Congenital Contractures

Cellular components related to Congenital Contractures according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.96 ASCC1 TRIP4
2 rough endoplasmic reticulum membrane GO:0030867 8.62 PLOD1 UBA1

Biological processes related to Congenital Contractures according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.96 LMOD3 RYR1
2 muscle contraction GO:0006936 8.62 CHRNG RYR1

Molecular functions related to Congenital Contractures according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tropomyosin binding GO:0005523 8.62 LMOD3 TNNT3

Sources for Congenital Contractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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