MCID: CNG065
MIFTS: 28

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 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 breast, b cells and skin.

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 75)
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 contractural syndrome 312.2
5lethal congenital contracture syndrome12.1
6lethal congenital contracture syndrome 412.1
7lethal congenital contracture syndrome 512.1
8lethal congenital contracture syndrome 612.1
9lethal congenital contracture syndrome 812.0
10lethal congenital contracture syndrome 712.0
11lethal congenital contracture syndrome 912.0
12holoprosencephaly-hypokinesia-congenital contractures syndrome11.8
13contractural arachnodactyly, congenital11.6
14van den ende-gupta syndrome11.2
15wieacker-wolff syndrome11.0
16arthrogryposis multiplex congenita, distal type 210.8
17arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.8
18intellectual disability-developmental delay-contractures syndrome10.8
19marden walker like syndrome10.8
20miles-carpenter x-linked mental retardation syndrome10.8
21windblown hand10.8
22van den ende-gupta sndrome10.8
23marfan syndrome10.5
24trachea adenoid cystic carcinoma10.1UBA1, VRK1
25spinal stenosis10.0UBA1, VRK1
26ehlers-danlos syndrome, type vi9.9CHST14, PLOD1
27ehlers-danlos syndrome, musculocontractural type 19.9
28bruck syndrome 19.9
29spinal muscular atrophy, x-linked 2, infantile9.9
30escobar syndrome9.9
31blepharophimosis9.8
32cerebritis9.8
33myopathy9.8
34muscular atrophy9.8
35malignant hyperthermia9.8
36chondrodysplasia punctata, rhizomelic, type 29.8
37chondrodysplasia punctata, rhizomelic, type 39.8
38nemaline myopathy 109.8
39chondrodysplasia punctata, rhizomelic, type 19.8
40arthrogryposis multiplex congenita, distal, type 19.8
41arthrogryposis, distal, type 2b9.8
42arthrogryposis, lethal, with anterior horn cell disease9.8
43muscular dystrophy-dystroglycanopathy , type a, 19.8
44pontocerebellar hypoplasia type 1a9.8
45bruck syndrome9.8
46chronobiology disease9.7CHST14, PLOD1
47testicular fibroma9.7UBA1, VRK1
48peters anomaly9.7
49ectodermal dysplasia9.7
50keratoconus9.7

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

Search NIH Clinical Center for Congenital Contractures

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, B cells, Skin, Myeloid, Kidney, Heart, Brain

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 129)
idTitleAuthorsYear
1
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (25683120)
2015
2
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. (25834781)
2015
3
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
2014
4
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. (24585410)
2014
5
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
6
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. (22325249)
2012
7
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. (22888032)
2012
8
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
9
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305)
2010
10
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (21157886)
2010
11
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
12
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. (17345643)
2007
13
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
14
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
2003
15
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
16
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
17
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. (12522281)
2002
18
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
2002
19
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
20
Multiple congenital contractures (congenital multiple arthrogryposis). (11933662)
2002
21
Congenital contractural arachnodactyly (Beals syndrome). (10927940)
2000
22
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585)
1998
23
Prenatal diagnosis in congenital contractural arachnodactyly. (10464661)
1997-1998
24
Multiple congenital contractures. (9260645)
1997
25
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. (9125342)
1996
26
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. (7897624)
1995
27
Aplasia cutis congenita with congenital contracture of knee. (8984053)
1995
28
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. (8403449)
1993
29
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
1992
30
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
31
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
1988
32
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. (3344776)
1988
33
Pursuing teratogenic causes of multiple congenital contractures. (3047415)
1988
34
Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). (3320905)
1986
35
A lethal autosomal recessive syndrome of multiple congenital contractures. (3993672)
1985
36
Congenital contractural arachnodactyly. (3842617)
1985
37
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. (3840649)
1985
38
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. (4039531)
1985
39
Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. (3968142)
1985
40
Congenital contractural arachnodactyly. (6571539)
1983
41
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (6614047)
1983
42
Gastroschisis and congenital contractures: coincidence or syndrome? (6456337)
1981
43
Congenital contractural arachnodactyly and intraocular colobomas. (526578)
1979
44
Congenital contractural arachnodactyly: description of a new kindred. (444317)
1979
45
Congenital contractural arachnodactyly. (495603)
1979
46
Congenital contractural arachnodactyly. (1032834)
1976
47
Congenital contractural arachnodactyly in a black family. (1201351)
1975
48
Congenital contractural arachnodactyly. A heritable disorder of connective tissue. (5557609)
1971
49
Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita. (13979731)
1963
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