MCID: CNG065
MIFTS: 29

Congenital Contractures malady

Category: Rare diseases

Aliases & Classifications for Congenital Contractures

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Aliases & Descriptions for Congenital Contractures:

Name: Congenital Contractures 48 27

Classifications:



Summaries for Congenital Contractures

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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). Affiliated tissues include skin, heart and bone, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

Related Diseases for Congenital Contractures

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 112.3
2congenital contractures of the limbs and face, hypotonia, and developmental delay12.2
3lethal congenital contractural syndrome 212.2
4lethal congenital contracture syndrome12.2
5lethal congenital contractural syndrome 312.2
6lethal congenital contracture syndrome 412.1
7lethal congenital contracture syndrome 512.1
8lethal congenital contracture syndrome 812.1
9lethal congenital contracture syndrome 712.1
10lethal congenital contracture syndrome 612.1
11lethal congenital contracture syndrome 912.0
12contractural arachnodactyly, congenital11.7
13van den ende-gupta syndrome11.0
14marfan syndrome11.0
15wieacker-wolff syndrome10.8
16miles-carpenter x-linked mental retardation syndrome10.8
17ehlers-danlos syndrome, musculocontractural type 110.8
18bruck syndrome 110.8
19spinal muscular atrophy, x-linked 2, infantile10.8
20escobar syndrome10.8
21arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.7
22holoprosencephaly with fetal akinesia/hypokinesia sequence10.7
23intellectual disability-developmental delay-contractures syndrome10.7
24marden walker like syndrome10.7
25windblown hand10.7
26van den ende-gupta sndrome10.7
27chondrodysplasia punctata, rhizomelic, type 210.6
28chondrodysplasia punctata, rhizomelic, type 310.6
29nemaline myopathy 1010.6
30bruck syndrome 210.6
31chondrodysplasia punctata, rhizomelic, type 110.6
32arthrogryposis multiplex congenita, distal, type 110.6
33arthrogryposis, distal, type 2b10.6
34arthrogryposis, lethal, with anterior horn cell disease10.6
35muscular dystrophy-dystroglycanopathy , type a, 110.6
36pontocerebellar hypoplasia type 1a10.6
37spinal muscular atrophy type 1 with congenital bone fractures10.6
38breast adenoid cystic carcinoma9.8UBA1, VRK1
39blepharophimosis9.7
40cerebritis9.7
41myopathy9.7
42muscular atrophy9.7
43malignant hyperthermia9.7
44testicular thecoma9.6TRIP4, UBA1, VRK1
45peters anomaly9.6
46ectodermal dysplasia9.6
47keratoconus9.6
48brachydactyly9.6
49apraxia9.6
50scoliosis9.6

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



Diseases related to congenital contractures

Symptoms & Phenotypes for Congenital Contractures

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.3PLOD1, UBA1

Drugs & Therapeutics for Congenital Contractures

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Heparinapproved, investigational8129005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
2
Edetic Acidapproved, vet_approved9560-00-4, 62-33-96049
Synonyms:
(ethylenedinitrilo)tetraacetic acid, ion(4−)
2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate
Acide ethylenediaminetetracetique
Acido edetico
Acidum edeticum
CaEDTA
Calcium Disodium Edetate (JAN)
Calcium Disodium Versenate
Calcium disodium versenate (TN)
 
EDT
EDTA
EDTA, ion(4-)
Edetate Calcium
Edetate calcium disodium (USP)
Ethylenediaminetetraacetate
Ethylenediaminetetraacetic acid
N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine)
acide edetique
{[-(bis-carboxymethyl-amino)-ethyl]-carboxymethyl-amino}-acetic acid
3
Acetylcholineapproved77651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
4Antibodies6045
5calcium heparin812
6Pentetic Acid95
7Autoantibodies126
8Immunoglobulins6045
9onabotulinumtoxinA626
10Neurotransmitter Agents17734
11Pharmaceutical Solutions7793
12Neuromuscular Agents1129
13Peripheral Nervous System Agents22776
14Botulinum Toxins, Type A630
15abobotulinumtoxinA626
16Botulinum Toxins669
17Cholinergic Agents3846
18incobotulinumtoxinA635

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Silicone Gel to Improve Scar in Microtia PatientsRecruitingNCT02518035Phase 4
2CPG Styles Study: A Study of the Safety of the Contour Profile Gel Breast Implants (CPG Styles Study)CompletedNCT01959880Phase 3
3Core Gel Study of the Safety and Effectiveness of Mentor Round Low Bleed Silicone Gel-filled Mammary ProsthesesCompletedNCT00753922Phase 3
4Mentor Siltex® Contour Profile Gel Mammary Prosthesis Clinical TrialCompletedNCT00812097Phase 3
5A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic MembraneRecruitingNCT02286427Phase 3
6The Improving Effect of Autologous Stromal Vascular Fraction (SVF) in Adipose Tissue on Skin GraftingRecruitingNCT02546882Phase 1, Phase 2
7Prevention of Post-Stroke Hand/Wrist Flexion DeformityCompletedNCT00628537Phase 1
8Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)Unknown statusNCT01874769
9Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
10Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar PressureRecruitingNCT02233140
11Ankle Equinus Contracture Treated With Dynamic SplintingTerminatedNCT01238484
12The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Pilon FracturesTerminatedNCT02051933

Search NIH Clinical Center for Congenital Contractures

Genetic Tests for Congenital Contractures

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Genetic tests related to Congenital Contractures:

id Genetic test Affiliating Genes
1 Congenital Contracture27

Anatomical Context for Congenital Contractures

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MalaCards organs/tissues related to Congenital Contractures:

36
Skin, Heart, Bone

Publications for Congenital Contractures

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Articles related to Congenital Contractures:

(show top 50)    (show all 130)
idTitleAuthorsYear
1
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. (27196565)
2016
2
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (25683120)
2015
3
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. (25834781)
2015
4
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. (25493702)
2015
5
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. (25975422)
2015
6
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
2014
7
Aortic aneurysm in three siblings with multiple congenital contractures. (24977674)
2014
8
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. (24585410)
2014
9
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. (24704792)
2014
10
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. (23296716)
2013
11
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. (23712425)
2013
12
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. (23808592)
2013
13
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. (23595522)
2013
14
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
15
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
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
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305)
2010
19
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (21157886)
2010
20
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. (19473076)
2009
21
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (19006240)
2009
22
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
23
Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. (18646717)
2008
24
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). (17520759)
2007
25
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. (17403810)
2007
26
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. (17345643)
2007
27
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
28
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). (17106180)
2006
29
Congenital contractural arachnodactyly (Beals syndrome). (16740166)
2006
30
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. (16892327)
2006
31
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. (16531736)
2006
32
Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. (15912465)
2005
33
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. (16440887)
2005
34
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. (15971261)
2005
35
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? (15017482)
2004
36
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (15646904)
2004
37
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (15121784)
2004
38
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. (15378541)
2004
39
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
2003
40
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
41
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
42
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
2002
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
Multiple congenital contractures: birth prevalence, etiology, and outcome. (11815765)
2002
45
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. (12522281)
2002
46
Multiple congenital contractures (congenital multiple arthrogryposis). (11933662)
2002
47
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. (12383326)
2002
48
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. (11400038)
2001
49
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (10797416)
2000
50
Congenital contractural arachnodactyly (Beals syndrome). (10927940)
2000

Variations for Congenital Contractures

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Expression for genes affiliated with Congenital Contractures

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Search GEO for disease gene expression data for Congenital Contractures.

Pathways for genes affiliated with Congenital Contractures

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GO Terms for genes affiliated with Congenital Contractures

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:003159410.0ASCC1, TRIP4
2rough endoplasmic reticulum membraneGO:00308679.3PLOD1, UBA1

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

idNameGO IDScoreTop Affiliating Genes
1tropomyosin bindingGO:00055239.4LMOD3, TNNT3

Sources for Congenital Contractures

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet