MCID: CNG065
MIFTS: 23

Congenital Contractures malady

Category: Rare diseases

Aliases & Classifications for Congenital Contractures

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Aliases & Descriptions for Congenital Contractures:

Name: Congenital Contractures 45

Classifications:



Summaries for Congenital Contractures

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MalaCards based summary: Congenital Contractures is related to lethal congenital contracture syndrome 1 and lethal congenital contractural syndrome 2. An important gene associated with Congenital Contractures is NALCN (Sodium Leak Channel, Non-Selective). Affiliated tissues include breast, skin and lung.

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 161)
idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 112.6
2lethal congenital contractural syndrome 212.6
3lethal congenital contractural syndrome 312.6
4lethal congenital contracture syndrome 412.5
5congenital contractures of the limbs and face, hypotonia, and developmental delay12.5
6lethal congenital contracture syndrome 512.5
7lethal congenital contracture syndrome 612.5
8lethal congenital contracture syndrome 812.4
9lethal congenital contracture syndrome 712.4
10lethal congenital contracture syndrome 912.4
11lethal congenital contracture syndrome12.4
12holoprosencephaly-hypokinesia-congenital contractures syndrome12.2
13contractural arachnodactyly, congenital12.0
14wieacker-wolff syndrome11.4
15van den ende-gupta syndrome11.2
16arthrogryposis multiplex congenita, distal type 211.2
17arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay11.2
18intellectual disability-developmental delay-contractures syndrome11.2
19marden walker like syndrome11.2
20miles-carpenter x-linked mental retardation syndrome11.2
21windblown hand11.2
22van den ende-gupta sndrome11.2
23ehlers-danlos syndrome, musculocontractural type 110.3
24bruck syndrome 110.3
25spinal muscular atrophy, x-linked 2, infantile10.3
26escobar syndrome10.3
27breast cancer10.3
28pancreatitis10.2
29chondrodysplasia punctata, rhizomelic, type 210.2
30chondrodysplasia punctata, rhizomelic, type 310.2
31nemaline myopathy 1010.2
32chondrodysplasia punctata, rhizomelic, type 110.2
33arthrogryposis multiplex congenita, distal, type 110.2
34arthrogryposis, distal, type 2b10.2
35arthrogryposis, lethal, with anterior horn cell disease10.2
36muscular dystrophy-dystroglycanopathy , type a, 110.2
37pontocerebellar hypoplasia type 1a10.2
38marfan syndrome10.2
39bruck syndrome10.2
40systemic lupus erythematosus10.1
41bronchopulmonary dysplasia10.1
42sarcoma10.1
43pneumonia10.1
44peritonitis10.1
45neuropathy10.1
46lupus erythematosus10.1
47endotheliitis10.1
48trachea adenoid cystic carcinoma10.0UBA1, VRK1
49spinal stenosis10.0UBA1, VRK1
50schizophrenia10.0

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, investigational7199005-49-6772, 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
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
2
Edetic Acidapproved5462-33-96049
Synonyms:
(Ethylenedinitrilo)tetraacetic acid, ion(4-)
2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate
Acide edetique
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
Edetate calcium disodium (USP)
Edetate disodium
Edetic acid
Ethylenediaminetetraacetate
Ethylenediaminetetraacetic acid
H4Edta
N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine)
{[-(bis-carboxymethyl-amino)-ethyl]-carboxymethyl-amino}-acetic acid
3
Acetylcholineexperimental68951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
4Antibodies4477
5calcium heparin719
6Pentetic Acid54
7Autoantibodies117
8Immunoglobulins4477
9OnabotulinumtoxinA588
10Neurotransmitter Agents14795
11Pharmaceutical Solutions7004
12Neuromuscular Agents922
13Peripheral Nervous System Agents18510
14Botulinum Toxins, Type A588
15AbobotulinumtoxinA588
16Botulinum Toxins616
17Cholinergic Agents3243
18IncobotulinumtoxinA599

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Core Gel Study of the Safety and Effectiveness of Mentor Round Low Bleed Silicone Gel-filled Mammary ProsthesesCompletedNCT00753922Phase 3
2Mentor Siltex® Contour Profile Gel Mammary Prosthesis Clinical TrialCompletedNCT00812097Phase 3
3CPG Styles Study: A Study of the Safety of the Contour Profile Gel Breast Implants (CPG Styles Study)CompletedNCT01959880Phase 3
4A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic MembraneRecruitingNCT02286427Phase 3
5The Improving Effect of Autologous Stromal Vascular Fraction (SVF) in Adipose Tissue on Skin GraftingRecruitingNCT02546882Phase 1, Phase 2
6Prevention of Post-Stroke Hand/Wrist Flexion DeformityCompletedNCT00628537Phase 1
7Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
8Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar PressureRecruitingNCT02233140
9Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)RecruitingNCT01874769
10Ankle Equinus Contracture Treated With Dynamic SplintingTerminatedNCT01238484
11The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Pilon FracturesTerminatedNCT02051933

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Genetic Tests for Congenital Contractures

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Anatomical Context for Congenital Contractures

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MalaCards organs/tissues related to Congenital Contractures:

33
Breast, Skin, Lung, B cells, Heart, Brain, Monocytes

Animal Models for Congenital Contractures or affiliated genes

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MGI Mouse Phenotypes related to Congenital Contractures:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Congenital Contractures

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Articles related to Congenital Contractures:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Mitotane Inhibits Sterol-O-Acyl Transferase 1 Triggering Lipid-Mediated Endoplasmic Reticulum Stress and Apoptosis in Adrenocortical Carcinoma Cells. (26305886)
2015
2
Plasma glucose kinetics and response of insulin and GIP following a cereal breakfast in female subjects: effect of starch digestibility. (25852025)
2015
3
Hepatic sinusoidal obstruction syndrome during chemotherapy for childhood medulloblastoma: report of a case and review of the literature. (24276042)
2014
4
Prolyl isomerase Pin1 acts downstream of miR200c to promote cancer stem-like cell traits in breast cancer. (24786790)
2014
5
Oxidative stress-associated protein tyrosine kinases and phosphatases in Fanconi Anemia. (24206276)
2013
6
Quality of life more impaired in younger than in older diffuse large B cell lymphoma survivors compared to a normative population: a study from the population-based PROFILES registry. (24318593)
2013
7
Trends in detection of invasive cancer and ductal carcinoma in situ at biennial screening mammography in Spain: a retrospective cohort study. (24376649)
2013
8
Fibroblast growth factor-2 (FGF2) and syndecan-1 (SDC1) are potential biomarkers for putative circulating CD15+/CD30+ cells in poor outcome Hodgkin lymphoma patients. (23988031)
2013
9
HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. (23203342)
2012
10
Congenital melanocytic nevi: where are we now? Part I. Clinical presentation, epidemiology, pathogenesis, histology, malignant transformation, and neurocutaneous melanosis. (22980258)
2012
11
Insulin sensitivity in late gestation and early postpartum period: the role of circulating maternal adipokines. (21714696)
2011
12
MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis. (20466882)
2010
13
Vorinostat interferes with the signaling transduction pathway of T-cell receptor and synergizes with phosphoinositide-3 kinase inhibitors in cutaneous T-cell lymphoma. (20133897)
2010
14
Osteoblastoma-like Osteosarcoma of the Cuboid: A Case Report. (20691084)
2010
15
Risk-taking in adolescence: A neuroeconomics approach]. (20434632)
2010
16
A serotonin transporter gene polymorphism predicts peripartum depressive symptoms in an at-risk psychiatric cohort. (20045118)
2010
17
Enterovascular fistula in a patient with squamous cell carcinoma arising in a cystic teratoma. (19373163)
2009
18
Long-term stability of heart rate variability in chronic stable angina pectoris, and the impact of an acute myocardial infarction. (19254330)
2009
19
A polypyrimidine tract-binding protein-dependent pathway of mRNA stability initiates with CpG activation of primary B cells. (18714005)
2008
20
Inhibition of histone-deacetylase activity by short-chain fatty acids and some polyphenol metabolites formed in the colon. (18061431)
2008
21
An unconventional form of actin in protozoan hemoflagellate, Leishmania. (18539603)
2008
22
Central retinal vein occlusion in hypertensive patients with chronic hepatitis C treated with interferon alpha and ribavirin. (19089580)
2008
23
When a mucocele is not a mucocele: adenocarcinoma NOS--a case report and review of the literature. (17682642)
2007
24
Pseudodendritic keratitis in ocular rosacea causing a diagnostic dilemma. (17951915)
2007
25
Aorto-ventricular tunnel. (17922908)
2007
26
CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population. (15785242)
2005
27
Differential expression of CD150 (SLAM) on monocytes and macrophages in chronic inflammatory contexts: abundant in Crohn's disease, but not in multiple sclerosis. (15623499)
2005
28
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
29
A comprehensive search for DNA amplification in lung cancer identifies inhibitors of apoptosis cIAP1 and cIAP2 as candidate oncogenes. (12651874)
2003
30
Clinical significance of acute-phase brain natriuretic peptide in acute myocardial infarction treated with direct coronary angioplasty. (14658407)
2003
31
Beta cell expression of IGF-I leads to recovery from type 1 diabetes. (11994404)
2002
32
Effect of aldosterone antagonism in heart failure: pharmacotherapeutic options]. (11219145)
2001
33
Rasputin, the Drosophila homologue of the RasGAP SH3 binding protein, functions in ras- and Rho-mediated signaling. (10725247)
2000
34
The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. (11167765)
2000
35
A paradoxical gender dissociation within the growth hormone/insulin-like growth factor I axis during protracted critical illness. (10634385)
2000
36
Comparative study of survival signal withdrawal- and 4-hydroxynonenal-induced cell death in cerebellar granule cells. (10617323)
1999
37
Role of glucose-6-phosphate dehydrogenase inhibition in the antiproliferative effects of dehydroepiandrosterone on human breast cancer cells. (9052415)
1997
38
The pharmacological basis for the treatment of perennial allergic rhinitis and non-allergic rhinitis with topical corticosteroids. (9212861)
1997
39
Sensitization of human umbilical vein endothelial cells to Shiga toxin: involvement of protein kinase C and NF-kappaB. (9234795)
1997
40
Blood alcohol concentrations after oral alcohol administration--effect of age and sex]. (9012221)
1996
41
Acyl-CoA binding proteins: multiplicity and function. (8882970)
1996
42
Hippocampal long-term potentiation in vivo induces translocation of protein kinase C gamma. (8003659)
1994
43
The histopathology of uterine leiomyomas following treatment with gonadotropin-releasing hormone analogues. (8406417)
1993
44
Vulvovaginitis and vaginal pH. (1489239)
1992
45
Characterization of gap junctions between cultured leptomeningeal cells. (1667612)
1991
46
Degeneration of the cholinergic innervation of the locus ceruleus in Alzheimer's disease. (2054656)
1991
47
Choline acetyltransferase activity and [3H]vesamicol binding in the temporal cortex of patients with Alzheimer's disease, Parkinson's disease, and rats with basal forebrain lesions. (2166243)
1990
48
Cervical dystonia following exposure to high-G forces. (2241735)
1990
49
Isolation of plasma membranes from murine ependymoblastoma and subcellular distribution of amphotericin B in this tumor. (851531)
1977
50

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

idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:00986559.8CHRNG, NALCN

Sources for Congenital Contractures

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet