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 47 26

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.

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 for Congenital Contractures

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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 Contracture26

Anatomical Context for Congenital Contractures

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MalaCards organs/tissues related to Congenital Contractures:

35
Skin, Heart, Bone

Animal Models for Congenital Contractures or affiliated genes

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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
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
2014
3
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. (23296716)
2013
4
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
5
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
6
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. (19473076)
2009
7
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
8
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). (17520759)
2007
9
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). (17106180)
2006
10
Congenital contractural arachnodactyly (Beals syndrome). (16740166)
2006
11
Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. (15912465)
2005
12
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. (16440887)
2005
13
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? (15017482)
2004
14
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
2003
15
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
16
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
2002
17
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
18
Multiple congenital contractures: birth prevalence, etiology, and outcome. (11815765)
2002
19
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (10797416)
2000
20
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585)
1998
21
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. (9683599)
1998
22
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. (9714438)
1998
23
Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. (11517966)
1998
24
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. (9199560)
1997
25
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. (8900230)
1996
26
Congenital contractural arachnodactyly (Beals syndrome). (7815423)
1994
27
Lethal congenital contracture syndrome: further delineation and genetic aspects. (7966188)
1994
28
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
1992
29
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. (1542340)
1992
30
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. (1287175)
1992
31
Congenital contractural arachnodactyly with unilateral lower limb deficiency. (1519656)
1992
32
Congenital contractural arachnodactyly in a black African kindred. (1807801)
1991
33
Multiple congenital contractures (MCC) and cleft palate induced in goats by ingestion of piperidine alkaloid-containing plants: reduction in fetal movement as the probable cause. (2381024)
1990
34
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
1988
35
Pursuing teratogenic causes of multiple congenital contractures. (3047415)
1988
36
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. (3561701)
1987
37
Muscle weakness and congenital contractures in a case of congenital myasthenia. (3958180)
1986
38
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. (3840649)
1985
39
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. (4039531)
1985
40
Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. (3968142)
1985
41
An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. (3921377)
1985
42
Congenital contractural arachnodactyly. Report of four additional families and review of literature. (4017278)
1985
43
Chromosomal abnormalities associated with congenital contractures (arthrogryposis). (3995785)
1985
44
Congenital contractural arachnodactyly. (6571539)
1983
45
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (6614047)
1983
46
Teratogens associated with congenital contractures in humans and in animals. (7101197)
1982
47
Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. (7205489)
1981
48
Congenital contractural arachnodactyly. Report of a neonate with advanced bone age. (220868)
1979
49
Congenital contractural arachnodactyly. (1032834)
1976
50
Marfan syndrome with congenital contractures. (132202)
1975

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:00315949.7ASCC1, TRIP4
2rough endoplasmic reticulum membraneGO:00308679.5PLOD1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet