MCID: CNG065
MIFTS: 32

Congenital Contractures malady

Rare diseases category

Aliases & Classifications for Congenital Contractures

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Congenital Contractures, Aliases & Descriptions:

Name: Congenital Contractures 41


Classifications:

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


Summaries for Congenital Contractures

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MalaCards based summary: Congenital Contractures is related to contractural arachnodactyly, congenital 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.

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 68)
idRelated DiseaseScoreTop Affiliating Genes
1contractural arachnodactyly, congenital31.2FBN2
2lethal congenital contractural syndrome 331.1PIP5K1C
3marfan syndrome30.3FBN1, FBN2
4distal arthrogryposis30.3TNNT3, MYH3
5ehlers-danlos syndrome29.9PLOD1, FBN1, CHST14
6aneurysm29.4FBN2, FBN1
7lethal congenital contracture syndrome 110.6
8lethal congenital contractural syndrome 210.5
9lethal congenital contracture syndrome 410.3
10weill-marchesani syndrome10.2FBN1
11hemophilia b10.2FBN1
12lethal congenital contracture syndrome 510.2
13clubfoot10.2TNNT3, MYH3, CHST14
14muscular dystrophy-dystroglycanopathy , type a, 110.1
15van den ende-gupta syndrome10.1
16muscular atrophy10.1
17blepharophimosis10.1
18malignant hyperthermia10.1
19cerebritis10.1
20myopathy10.1
21arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.1
22miles-carpenter x-linked mental retardation syndrome10.1
23peters anomaly9.9
24rhizomelic chondrodysplasia punctata, type 39.9
25rhizomelic chondrodysplasia punctata, type 19.9
26arthrogryposis, distal, type 2b9.9
27congenital disorder of glycosylation, type iu9.9
28muscular dystrophy-dystroglycanopathy , type a, 29.9
29ehlers-danlos syndrome, musculocontractural type 19.9
30bruck syndrome 19.9
31marden-walker syndrome9.9
32wieacker-wolff syndrome9.9
33chondrodysplasia punctata, rhizomelic, type 29.9
34nemaline myopathy 2, autosomal recessive9.9
35arthrogryposis multiplex congenita, distal, type 19.9
36pontocerebellar hypoplasia type 1a9.9
37pontocerebellar hypoplasia type 49.9
38spinal muscular atrophy, x-linked 2, infantile9.9
39ectodermal dysplasia9.9
40keratoconus9.9
41homocystinuria9.9
42hypospadias9.9
43cleft lip9.9
44microcephaly9.9
45sensorineural hearing loss9.9
46coloboma9.9
47gastroschisis9.9
48brachydactyly9.9
49anterior horn cell disease9.9
50bruck syndrome9.9

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:

31
Bone, Heart, Skin

Animal Models for Congenital Contractures or affiliated genes

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MGI Mouse Phenotypes related to Congenital Contractures:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4CHST14, TNNT3, FBN1, FBN2
2MP:00107717.9PIP5K1C, FBN1, CHST14, PLOD1, ERBB3, EGF
3MP:00053697.6FBN2, FBN1, TNNT3, PLOD1, ERBB3
4MP:00053857.3ERBB3, PIP5K1C, FBN2, FBN1, TNNT3, CHST14
5MP:00053787.0PIP5K1C, FBN2, FBN1, TNNT3, CHST14, ERBB3
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 128)
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 (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
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
32
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
1988
33
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. (3344776)
1988
34
Pursuing teratogenic causes of multiple congenital contractures. (3047415)
1988
35
Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). (3320905)
1986
36
A lethal autosomal recessive syndrome of multiple congenital contractures. (3993672)
1985
37
Congenital contractural arachnodactyly. (3842617)
1985
38
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. (3840649)
1985
39
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. (4039531)
1985
40
Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. (3968142)
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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Search GEO for disease gene expression data for Congenital Contractures.

Pathways for genes affiliated with Congenital Contractures

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Pathways related to Congenital Contractures according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Congenital Contractures

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Compounds related to Congenital Contractures according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1iressa599.8EGF, ERBB3
2jnj 28871063 hydrochloride599.7ERBB3, EGF
3ag 490599.7ERBB3, EGF
4ag 1478 hydrochloride599.7ERBB3, EGF
5pertuzumab43 49 1211.7EGF, ERBB3
6lapatinib43 49 1211.6EGF, ERBB3
7cetuximab43 49 1211.6ERBB3, EGF
8erlotinib43 49 1211.5EGF, ERBB3
9trastuzumab43 49 1211.5EGF, ERBB3
10proline438.4PLOD1, FBN1, FBN2
11cysteine438.1FBN2, FBN1, PLOD1, EGF
12calcium43 49 24 1210.4FBN2, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:00329829.3MYBPC1, MYH3
2microfibrilGO:00015278.9FBN1, FBN2
3extracellular spaceGO:00056158.6EGF, GLE1, ERBB3, FBN1

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:00030099.7TNNT3, MYH3
2negative regulation of secretionGO:00510489.5EGF, ERBB3
3muscle filament slidingGO:00300499.4MYBPC1, MYH3, TNNT3
4sequestering of TGFbeta in extracellular matrixGO:00355839.1FBN1, FBN2
5embryonic limb morphogenesisGO:00303269.0MYH3, FBN2
6extracellular matrix organizationGO:00301988.7PLOD1, FBN1, FBN2

Molecular functions related to Congenital Contractures according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.0FBN1, FBN2
2actin bindingGO:00037799.0MYBPC1, MYH3, TNNT3

Products for genes affiliated with Congenital Contractures

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Contractures

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet