MCID: CNG065
MIFTS: 20

Congenital Contractures malady

Summaries for Congenital Contractures

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32MalaCards
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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 iressa and jnj 28871063 hydrochloride have been mentioned in the context of this disorder.

Aliases & Classifications for Congenital Contractures

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42NIH Rare Diseases
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Aliases & Descriptions:

congenital contractures 42


Related Diseases for Congenital Contractures

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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1congenital contractural arachnodactyly31.3FBN2
2marfan syndrome30.5FBN1, FBN2
3distal arthrogryposis type 529.8TNNT3, MYH3
4distal arthrogryposis29.8MYBPC1, MYH3, FBN2, TNNT3
5ehlers-danlos syndrome29.8CHST14, PLOD1, FBN1
6lethal congenital contracture syndrome 110.5
7lethal congenital contracture syndrome 210.3
8lethal congenital contractural syndrome 210.2
9lethal congenital contractural syndrome 310.2
10cerebritis10.1
11cleft palate10.1
12muscular atrophy10.1
13blepharophimosis10.1
14malignant hyperthermia10.1
15myopathy10.1
16lethal congenital contracture syndrome 410.1
17lethal congenital contracture syndrome 510.1
18dental pulp calcification10.0FBN2
19hemophilia b10.0FBN1
20connective tissue disease10.0FBN1
21mitral valve prolapse10.0FBN1, FBN2
22aneurysm disease10.0FBN1, FBN2
23polycystic kidney disease, autosomal dominant10.0FBN1, EGF
24clubfoot10.0TNNT3, CHST14, MYH3
25sensorineural hearing loss9.9
26coloboma9.9
27noonan syndrome9.9
28gastroschisis9.9
29brachydactyly9.9
30microcephaly9.9
31cleft lip9.9
32hypospadias9.9
33homocystinuria9.9
34anterior horn cell disease9.9
35apraxia9.9
36chorioretinitis9.9
37chromosomal disease9.9
38intellectual disability9.9
39keratoconus9.9
40paraplegia9.9
41rhizomelic chondrodysplasia punctata type 19.9
42rhizomelic chondrodysplasia punctata, type 39.9
43arthrogryposis multiplex congenita distal type 19.9
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

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Drugs & Therapeutics for Congenital Contractures

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Contractures

Drug clinical trials:

Search ClinicalTrials for Congenital Contractures

Search NIH Clinical Center for Congenital Contractures

Search CenterWatch for Congenital Contractures

Genetic Tests for Congenital Contractures

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Anatomical Context for Congenital Contractures

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Animal Models for Congenital Contractures or affiliated genes

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Publications for Congenital Contractures

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Genetic Variations for Congenital Contractures

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Expression for genes affiliated with Congenital Contractures

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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

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Congenital Contractures

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59Tocris Bioscience, 44Novoseek, 49PharmGKB, 11DrugBank
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Compounds related to Congenital Contractures according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1iressa5910.0ERBB3, EGF
2jnj 28871063 hydrochloride599.9EGF, ERBB3
3ag 490599.9EGF, ERBB3
4ag 1478 hydrochloride599.8EGF, ERBB3
5cetuximab44 49 1111.8ERBB3, EGF
6pertuzumab44 49 1111.7ERBB3, EGF
7lapatinib44 49 1111.5ERBB3, EGF

GO Terms for genes affiliated with Congenital Contractures

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Contractures

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet