MCID: CNG065
MIFTS: 29

Congenital Contractures malady

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

Aliases & Descriptions for Congenital Contractures:

Name: Congenital Contractures 50 29

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures is related to lethal congenital contracture syndrome 1 and congenital contractures of the limbs and face, hypotonia, and developmental delay. An important gene associated with Congenital Contractures is NALCN (Sodium Leak Channel, Non-Selective). The drugs Heparin and Edetic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotype is Increased shRNA abundance (Z-score > 2).

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 78)
id Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 1 12.3
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.2
3 lethal congenital contractural syndrome 2 12.2
4 lethal congenital contracture syndrome 12.2
5 lethal congenital contracture syndrome 11 12.1
6 lethal congenital contractural syndrome 3 12.1
7 lethal congenital contracture syndrome 4 12.1
8 lethal congenital contracture syndrome 7 12.1
9 lethal congenital contracture syndrome 8 12.1
10 lethal congenital contracture syndrome 6 12.1
11 lethal congenital contracture syndrome 5 12.1
12 lethal congenital contracture syndrome 9 12.0
13 contractural arachnodactyly, congenital 11.7
14 van den ende-gupta syndrome 11.0
15 marfan syndrome 11.0
16 wieacker-wolff syndrome 10.8
17 ehlers-danlos syndrome, musculocontractural type 1 10.8
18 bruck syndrome 1 10.8
19 spinal muscular atrophy, x-linked 2, infantile 10.8
20 escobar syndrome 10.8
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.7
22 marden walker like syndrome 10.7
23 holoprosencephaly with fetal akinesia/hypokinesia sequence 10.7
24 miles-carpenter x-linked mental retardation syndrome 10.7
25 windblown hand 10.7
26 van den ende-gupta sndrome 10.7
27 miles-carpenter syndrome 10.7
28 intellectual disability-developmental delay-contractures syndrome 10.7
29 spinal muscular atrophy type 1 with congenital bone fractures 10.6
30 pontocerebellar hypoplasia type 1a 10.6
31 chondrodysplasia punctata, rhizomelic, type 2 10.6
32 chondrodysplasia punctata, rhizomelic, type 3 10.6
33 nemaline myopathy 10 10.6
34 chondrodysplasia punctata, rhizomelic, type 1 10.6
35 bruck syndrome 10.6
36 arthrogryposis multiplex congenita, distal, type 1 10.6
37 arthrogryposis, distal, type 2b 10.6
38 arthrogryposis, lethal, with anterior horn cell disease 10.6
39 muscular dystrophy-dystroglycanopathy , type a, 1 10.6
40 nemaline myopathy 4, autosomal dominant 10.2 NALCN TNNT3
41 congenital disorder of glycosylation, type iid 10.1 NALCN TNNT3
42 carney complex variant 10.1 NALCN TNNT3
43 atrioventricular septal defect 10.1 NALCN TNNT3
44 microcephaly and chorioretinopathy, autosomal recessive, 2 10.0 CHST14 PLOD1
45 nephrotic syndrome 9.9 CHST14 TNNT3
46 colorado tick fever 9.8 UBA1 VRK1
47 spondylolisthesis 9.8 TRIP4 UBA1 VRK1
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

GenomeRNAi Phenotypes related to Congenital Contractures according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.44 UBA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.44 UBA1 PLOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.44 PLOD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.44 PLOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.44 PLOD1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.44 PLOD1 UBA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.44 UBA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 UBA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.44 PLOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.44 UBA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.44 UBA1

Drugs & Therapeutics for Congenital Contractures

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational 9005-49-6 772 46507594
2
Edetic Acid Approved, Vet_approved 60-00-4, 62-33-9 6049
3
Menthol Approved 2216-51-5 16666
4
Acetylcholine Approved 51-84-3 187
5 calcium heparin
6 Pentetic Acid
7 Immunoglobulins
8 Antibodies
9 Autoantibodies
10 Cholinergic Agents
11 Neuromuscular Agents
12 Neurotransmitter Agents
13 Peripheral Nervous System Agents
14 Pharmaceutical Solutions
15 abobotulinumtoxinA
16 incobotulinumtoxinA
17 onabotulinumtoxinA
18 Botulinum Toxins
19 Botulinum Toxins, Type A

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Silicone Gel to Improve Scar in Microtia Patients Recruiting NCT02518035 Phase 4
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 Recruiting NCT02546882 Phase 1, Phase 2
7 Prevention of Post-Stroke Hand/Wrist Flexion Deformity Completed NCT00628537 Phase 1
8 Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT01874769
9 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
10 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
11 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Recruiting NCT02233140
12 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
13 Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair Not yet recruiting NCT03055637
14 Ankle Equinus Contracture Treated With Dynamic Splinting Terminated NCT01238484
15 The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Pilon Fractures Terminated NCT02051933

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, Heart, Bone

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 131)
id Title Authors Year
1
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
2
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
3
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
4
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
5
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
6
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
7
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
8
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. ( 24704792 )
2014
9
Aortic aneurysm in three siblings with multiple congenital contractures. ( 24977674 )
2014
10
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
11
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. ( 23808592 )
2013
12
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
13
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. ( 23296716 )
2013
14
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
15
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
16
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. ( 22888032 )
2012
17
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
18
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
19
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. ( 21157886 )
2010
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
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
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
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. ( 18718019 )
2008
24
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
25
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
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
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
29
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
30
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
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
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
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
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
37
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
38
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )
2004
39
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
40
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003
41
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
42
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
43
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
44
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
45
Multiple congenital contractures (congenital multiple arthrogryposis). ( 11933662 )
2002
46
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
47
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
48
Multiple congenital contractures: birth prevalence, etiology, and outcome. ( 11815765 )
2002
49
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ( 11400038 )
2001
50
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. ( 10756430 )
2000

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 cation transmembrane transport GO:0098655 8.62 CHRNG NALCN

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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