MCID: CNG065
MIFTS: 37

Congenital Contractures malady

Rare diseases category
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Summaries for Congenital Contractures

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33MalaCards
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MalaCards: 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 jnj 28871063 hydrochloride and iressa 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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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

congenital contractures 43


Related Diseases for Congenital Contractures

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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 arachnodactyly31.5FBN2
2lethal congenital contractural syndrome 330.5PIP5K1C
3marfan syndrome30.5FBN1, FBN2
4ehlers-danlos syndrome29.9PLOD1, FBN1, CHST14
5distal arthrogryposis29.8MYH3, MYBPC1, TNNT3, FBN2
6lethal congenital contracture syndrome 110.6
7lethal congenital contracture syndrome 210.3
8lethal congenital contractural syndrome 210.2
9muscular atrophy10.1
10blepharophimosis10.1
11malignant hyperthermia10.1
12cerebritis10.1
13myopathy10.1
14lethal congenital contracture syndrome 410.1
15lethal congenital contracture syndrome 510.1
16distal arthrogryposis type 510.1TNNT3, MYH3
17weill-marchesani syndrome10.1FBN1
18hemophilia b10.0FBN1
19clubfoot10.0TNNT3, MYH3, CHST14
20polycystic kidney disease, autosomal dominant10.0FBN1, EGF
21mitral valve prolapse10.0FBN1, FBN2
22homocystinuria9.9
23hypospadias9.9
24cleft lip9.9
25microcephaly9.9
26cleft palate9.9
27sensorineural hearing loss9.9
28coloboma9.9
29gastroschisis9.9
30brachydactyly9.9
31anterior horn cell disease9.9
32apraxia9.9
33chorioretinitis9.9
34congenital heart disease9.9
35intellectual disability9.9
36keratoconus9.9
37paraplegia9.9
38rhizomelic chondrodysplasia punctata type 19.9
39aplasia cutis congenita9.9
40arthrogryposis multiplex congenita distal type 19.9
41arthrogryposis multiplex congenita, distal type 29.9
42arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay9.9
43bruck syndrome 29.9
44ectodermal dysplasia9.9
45freeman sheldon syndrome9.9
46kuskokwim disease9.9
47marden walker like syndrome9.9
48miles-carpenter x-linked mental retardation syndrome9.9
49rhizomelic chondrodysplasia punctata type 29.9
50rhizomelic chondrodysplasia punctata, type 39.9

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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Congenital Contractures:

33
Bone, Heart, Skin

Animal Models for Congenital Contractures or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Contractures:

37
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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52PubMed
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Articles related to Congenital Contractures:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
2
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. (22325249)
2012
3
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. (22888032)
2012
4
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
5
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305)
2010
6
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (21157886)
2010
7
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
2008
8
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. (17345643)
2007
9
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
10
Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. (15912465)
2005
11
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (15121784)
2004
12
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
2003
13
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
14
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
2003
15
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. (12522281)
2002
16
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
2002
17
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
18
Multiple congenital contractures (congenital multiple arthrogryposis). (11933662)
2002
19
Congenital contractural arachnodactyly (Beals syndrome). (10927940)
2000
20
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585)
1998
21
Prenatal diagnosis in congenital contractural arachnodactyly. (10464661)
1997-1998
22
Multiple congenital contractures. (9260645)
1997
23
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. (7897624)
1995
24
Aplasia cutis congenita with congenital contracture of knee. (8984053)
1995
25
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. (7493032)
1995
26
Congenital contractural arachnodactyly (Beals syndrome). (7815423)
1994
27
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. (8403449)
1993
28
Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
1992
29
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
30
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
1988
31
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. (3344776)
1988
32
Pursuing teratogenic causes of multiple congenital contractures. (3047415)
1988
33
Kyphoscoliosis in congenital contractural arachnodactyly. A case report. (3441817)
1987
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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2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 57SinoBiological, 53QIAGEN, 30KEGG
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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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Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Congenital Contractures according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1jnj 28871063 hydrochloride619.8ERBB3, EGF
2iressa619.7EGF, ERBB3
3ag 1478 hydrochloride619.7EGF, ERBB3
4ag 490619.7EGF, ERBB3
5pertuzumab45 51 1111.7ERBB3, EGF
6lapatinib45 51 1111.6EGF, ERBB3
7cetuximab45 51 1111.6ERBB3, EGF
8erlotinib45 51 1111.5EGF, ERBB3
9trastuzumab45 51 1111.5ERBB3, EGF
10proline458.4PLOD1, FBN2, FBN1
11cysteine458.1EGF, PLOD1, FBN1, FBN2
12calcium45 51 24 1110.4EGF, ERBB3, MYBPC1, TNNT3, FBN1, FBN2

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
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
  • Lysates
  • Antibodies

Sources for Congenital Contractures

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet