MCID: CNG065
MIFTS: 29

Congenital Contractures malady

Summaries for Congenital Contractures

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33MalaCards
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MalaCards: Congenital Contractures is related to congenital contractural arachnodactyly and marfan syndrome. An important gene associated with Congenital Contractures is FBN2 (fibrillin 2), and among its related pathways are Stabilization and expansion of the E-cadherin adherens junction and EGF receptor (ErbB1) signaling pathway. The compounds jnj 28871063 hydrochloride and ag 490 have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and tongue.

Aliases & Classifications for Congenital Contractures

Sources:
43NIH Rare Diseases
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Aliases & Descriptions:

congenital contractures 43


Related Diseases for Congenital Contractures

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Congenital Contractures via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1congenital contractural arachnodactyly31.4FBN2
2marfan syndrome30.6FBN1, FBN2
3distal arthrogryposis type 529.9TNNT3, MYH3
4distal arthrogryposis29.9MYBPC1, MYH3, FBN2, TNNT3
5lethal congenital contracture syndrome 110.5
6lethal congenital contracture syndrome 210.3
7n syndrome10.2
8lethal congenital contractural syndrome 210.2
9lethal congenital contractural syndrome 310.2
10coloboma10.1
11cleft palate10.1
12muscular atrophy10.1
13blepharophimosis10.1
14malignant hyperthermia10.1
15conn's syndrome10.1
16myopathy congenital10.1
17hec syndrome10.1
18lethal congenital contracture syndrome 410.1
19lethal congenital contracture syndrome 510.1
20dental pulp calcification10.0FBN2
21hemophilia b10.0FBN1
22connective tissue disease10.0FBN1
23mitral valve prolapse10.0FBN1, FBN2
24aneurysm disease10.0FBN1, FBN2
25polycystic kidney disease, autosomal dominant10.0FBN1, EGF
26clubfoot10.0TNNT3, CHST14, MYH3
27ehlers-danlos syndrome10.0CHST14, PLOD1, FBN1
28sensorineural hearing loss9.9
29noonan syndrome9.9
30gastroschisis9.9
31brachydactyly9.9
32microcephaly9.9
33hypospadias9.9
34homocystinuria9.9
35anterior horn cell disease9.9
36apraxia9.9
37ehlers–danlos syndrome9.9
38micro syndrome9.9
39char syndrome9.9
40rhizomelic chondrodysplasia punctata type 19.9
41short syndrome9.9
42arthrogryposis multiplex congenita distal type 19.9
43aplasia cutis congenita9.9
44wieacker syndrome9.9
45freeman sheldon syndrome9.9
46arthrogryposis multiplex congenita, distal type 29.9
47arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay9.9
48kuskokwim disease9.9
49marden walker like syndrome9.9
50bruck syndrome 29.9

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



Diseases related to congenital contractures

Clinical Features for Congenital Contractures

Drugs & Therapeutics for Congenital Contractures

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Contractures

Drug clinical trials:

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Search NIH Clinical Center for Congenital Contractures

Search CenterWatch for Congenital Contractures

Genetic Tests for Congenital Contractures

Anatomical Context for Congenital Contractures

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Contractures:

33
Heart, Skin, Tongue

Animal Models for Congenital Contractures or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Contractures

Sources:
51PubMed
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Articles related to Congenital Contractures:

(show all 48)
idTitleAuthorsYear
1
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. (23296716)
2013
2
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. (22888032)
2012
3
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305)
2010
4
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (21157886)
2010
5
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
6
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. (15971261)
2005
7
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (15328561)
2004
8
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
9
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
10
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
11
Multiple congenital contractures (congenital multiple arthrogryposis). (11933662)
2002
12
Multiple congenital contractures: birth prevalence, etiology, and outcome. (11815765)
2002
13
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. (10219778)
1999
14
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. (9708547)
1998
15
Multiple congenital contractures. (9260645)
1997
16
The dorsal transposition flap for congenital contractures of the first web space: a 20-year experience. (9260624)
1997
17
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. (7504881)
1993
18
Infantile spinal amylotrophy Werding-Hoffman disease and congenital contractures. (8032025)
1993
19
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
1992
20
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. (1287175)
1992
21
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. (1856834)
1991
22
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
23
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
1988
24
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. (3344776)
1988
25
Pursuing teratogenic causes of multiple congenital contractures. (3047415)
1988
26
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. (3346884)
1988
27
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. (3561701)
1987
28
Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. (3295844)
1987
29
Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). (3320905)
1986
30
Muscle weakness and congenital contractures in a case of congenital myasthenia. (3958180)
1986
31
Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis). (3948960)
1986
32
A lethal autosomal recessive syndrome of multiple congenital contractures. (3993672)
1985
33
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. (3840649)
1985
34
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. (4039531)
1985
35
An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. (3921377)
1985
36
A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia. (4041573)
1985
37
Chromosomal abnormalities associated with congenital contractures (arthrogryposis). (3995785)
1985
38
A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. (6507477)
1984
39
Craniofacial development in arthrogryposis (congenital contractures). (6509163)
1984
40
An approach to research on congenital contractures. (6535603)
1984
41
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (6614047)
1983
42
Teratogens associated with congenital contractures in humans and in animals. (7101197)
1982
43
Concepts of multiple congenital contractures (arthrogryposis) in man and animals. (7101201)
1982
44
Gastroschisis and congenital contractures: coincidence or syndrome? (6456337)
1981
45
An approach to congenital contractures (arthrogryposis). (7022342)
1981
46
Marfan syndrome with congenital contractures. (132202)
1975
47
Congenital blepharophimosis, joint contractures, and muscular hypotonia. (5167313)
1971
48
Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita. (13979731)
1963

Genetic Variations for Congenital Contractures

Expression for genes affiliated with Congenital Contractures

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Contractures

Search GEO for disease gene expression data for Congenital Contractures.

Pathways for genes affiliated with Congenital Contractures

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Congenital Contractures

Sources:
60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank
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Compounds related to Congenital Contractures according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1jnj 28871063 hydrochloride6010.0EGF, ERBB3
2ag 490609.9EGF, ERBB3
3ag 1478 hydrochloride609.9EGF, ERBB3
4iressa609.8EGF, ERBB3
5cetuximab45 50 1111.8EGF, ERBB3
6pertuzumab45 50 1111.7EGF, ERBB3
7lapatinib45 50 1111.5EGF, ERBB3

GO Terms for genes affiliated with Congenital Contractures

Sources:
16Gene Ontology
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Cellular components related to Congenital Contractures according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:0015279.8FBN2, FBN1
2myofibrilGO:0300169.3MYBPC1, MYH3
3myosin filamentGO:0329829.0MYBPC1, MYH3

Biological processes related to Congenital Contractures according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of secretionGO:0510489.8ERBB3, EGF
2sequestering of TGFbeta in extracellular matrixGO:0355839.6FBN2, FBN1
3muscle filament slidingGO:0300498.8MYBPC1, MYH3, TNNT3

Products for genes affiliated with Congenital Contractures

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Contractures

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet