MCID: CNG065
MIFTS: 39

Congenital Contractures malady

Rare diseases category
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Summaries for Congenital Contractures

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Wikipedia:65 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

MalaCards based summary: Congenital Contractures is related to congenital contractural arachnodactyly and lethal congenital contractural syndrome 3. An important gene associated with Congenital Contractures is CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14), 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. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are limbs/digits/tail and integument.

Aliases & Classifications for Congenital Contractures

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Congenital Contractures, Aliases & Descriptions:

Name: Congenital Contractures 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Congenital Contractures

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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 arachnodactyly31.7FBN2
2lethal congenital contractural syndrome 331.0PIP5K1C
3marfan syndrome30.3FBN1, FBN2
4ehlers-danlos syndrome30.0PLOD1, CHST14, FBN1
5distal arthrogryposis29.5MYBPC1, MYH3, TNNT3, FBN2
6aneurysm29.5FBN1, FBN2
7lethal congenital contracture syndrome 110.6
8lethal congenital contracture syndrome 210.4
9distal arthrogryposis type 510.2MYH3, TNNT3
10weill-marchesani syndrome10.2FBN1
11lethal congenital contractural syndrome 210.2
12lethal congenital contracture syndrome 410.2
13hemophilia b10.2FBN1
14clubfoot10.2TNNT3, MYH3, CHST14
15muscular atrophy10.1
16blepharophimosis10.1
17malignant hyperthermia10.1
18cerebritis10.1
19myopathy10.1
20lethal congenital contracture syndrome 510.1
21ectodermal dysplasia10.0
22keratoconus10.0
23cleft palate10.0
24homocystinuria10.0
25cleft lip10.0
26sensorineural hearing loss10.0
27coloboma10.0
28brachydactyly10.0
29anterior horn cell disease10.0
30hypospadias10.0
31microcephaly10.0
32gastroschisis10.0
33aortic aneurysm10.0
34apraxia10.0
35chorioretinitis10.0
36congenital heart disease10.0
37paraplegia10.0
38rhizomelic chondrodysplasia punctata type 110.0
39aplasia cutis congenita10.0
40arthrogryposis multiplex congenita distal type 110.0
41arthrogryposis multiplex congenita, distal type 210.0
42arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.0
43bruck syndrome 210.0
44kuskokwim disease10.0
45marden walker like syndrome10.0
46miles-carpenter x-linked mental retardation syndrome10.0
47rhizomelic chondrodysplasia punctata type 210.0
48rhizomelic chondrodysplasia punctata, type 310.0
49wieacker syndrome10.0
50windblown hand10.0

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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Drug clinical trials:

Search ClinicalTrials for Congenital Contractures

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:

32
Bone, Heart, Skin

Animal Models for Congenital Contractures or affiliated genes

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MGI Mouse Phenotypes related to Congenital Contractures:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4CHST14, TNNT3, FBN1, FBN2
2MP:00107717.9PIP5K1C, FBN1, CHST14, PLOD1, ERBB3, EGF
3MP:00053697.6ERBB3, FBN2, FBN1, TNNT3, PLOD1
4MP:00053857.3CHST14, FBN1, PLOD1, ERBB3, FBN2, PIP5K1C
5MP:00053787.0PIP5K1C, TNNT3, EGF, ERBB3, CHST14, FBN2
6MP:00107686.9PIP5K1C, FBN2, FBN1, TNNT3, CHST14, PLOD1

Publications for Congenital Contractures

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Articles related to Congenital Contractures:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
2014
2
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
3
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. (22325249)
2012
4
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. (22888032)
2012
5
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
6
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305)
2010
7
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (21157886)
2010
8
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
9
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. (17345643)
2007
10
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
11
Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. (15912465)
2005
12
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (15121784)
2004
13
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
2003
14
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
15
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
16
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. (12522281)
2002
17
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
2002
18
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
19
Multiple congenital contractures (congenital multiple arthrogryposis). (11933662)
2002
20
Congenital contractural arachnodactyly (Beals syndrome). (10927940)
2000
21
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585)
1998
22
Prenatal diagnosis in congenital contractural arachnodactyly. (10464661)
1997-1998
23
Multiple congenital contractures. (9260645)
1997
24
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. (9125342)
1996
25
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. (7897624)
1995
26
Aplasia cutis congenita with congenital contracture of knee. (8984053)
1995
27
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. (7493032)
1995
28
Congenital contractural arachnodactyly (Beals syndrome). (7815423)
1994
29
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. (8403449)
1993
30
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
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
An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. (3921377)
1985
41
Congenital contractural arachnodactyly. (6571539)
1983
42
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (6614047)
1983
43
Gastroschisis and congenital contractures: coincidence or syndrome? (6456337)
1981
44
Congenital contractural arachnodactyly and intraocular colobomas. (526578)
1979
45
Congenital contractural arachnodactyly: description of a new kindred. (444317)
1979
46
Congenital contractural arachnodactyly. (495603)
1979
47
Congenital contractural arachnodactyly. (1032834)
1976
48
Congenital contractural arachnodactyly in a black family. (1201351)
1975
49
Congenital contractural arachnodactyly. A heritable disorder of connective tissue. (5557609)
1971
50
Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita. (13979731)
1963

Variations for Congenital Contractures

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Expression for genes affiliated with Congenital Contractures

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Expression patterns in normal tissues for genes affiliated with Congenital Contractures

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Pathways for genes affiliated with Congenital Contractures

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Pathways related to Congenital Contractures according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PIP5K1C, EGF
29.5EGF, PIP5K1C
3
Show member pathways
9.5ERBB3, EGF
49.5ERBB3, EGF
59.5ERBB3, EGF
6
Show member pathways
9.3MYH3, MYBPC1, TNNT3
7
Show member pathways
9.2MYH3, ERBB3, PIP5K1C
8
Show member pathways
9.2PIP5K1C, MYH3, EGF
99.1ERBB3, PIP5K1C, EGF
10
Show member pathways
9.0FBN1, FBN2
11
Show member pathways
8.7PLOD1, FBN2, FBN1
12
Show member pathways
8.5FBN2, FBN1, EGF
13
Show member pathways
7.7FBN2, FBN1, PIP5K1C, EGF, MYH3
14
Show member pathways
7.3FBN2, FBN1, MYH3, ERBB3, EGF, PIP5K1C

Compounds for genes affiliated with Congenital Contractures

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Compounds related to Congenital Contractures according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1iressa619.8EGF, ERBB3
2jnj 28871063 hydrochloride619.7ERBB3, EGF
3ag 490619.7ERBB3, EGF
4ag 1478 hydrochloride619.7ERBB3, EGF
5pertuzumab44 50 1111.7EGF, ERBB3
6lapatinib44 50 1111.6EGF, ERBB3
7cetuximab44 50 1111.6ERBB3, EGF
8erlotinib44 50 1111.5EGF, ERBB3
9trastuzumab44 50 1111.5EGF, ERBB3
10proline448.4PLOD1, FBN1, FBN2
11cysteine448.1FBN2, FBN1, PLOD1, EGF
12calcium44 50 24 1110.4FBN2, FBN1, TNNT3, MYBPC1, ERBB3, EGF

GO Terms for genes affiliated with Congenital Contractures

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Cellular components related to Congenital Contractures according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:0329829.3MYBPC1, MYH3
2microfibrilGO:0015278.9FBN1, FBN2
3extracellular spaceGO:0056158.6EGF, GLE1, ERBB3, FBN1

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:0030099.7MYH3, TNNT3
2negative regulation of secretionGO:0510489.5ERBB3, EGF
3muscle filament slidingGO:0300499.4MYBPC1, MYH3, TNNT3
4sequestering of TGFbeta in extracellular matrixGO:0355839.1FBN2, FBN1
5embryonic limb morphogenesisGO:0303269.0MYH3, FBN2
6extracellular matrix organizationGO:0301988.7FBN1, PLOD1, FBN2

Molecular functions related to Congenital Contractures according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0FBN1, FBN2
2actin bindingGO:0037799.0MYBPC1, MYH3, TNNT3

Products for genes affiliated with Congenital Contractures

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet