MCID: CNG065
MIFTS: 27

Congenital Contractures

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

MalaCards integrated aliases for Congenital Contractures:

Name: Congenital Contractures 49
Congenital Contracture 28

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures, also known as congenital contracture, is related to multiple pterygium syndrome, escobar variant and anterior horn cell disease. An important gene associated with Congenital Contractures is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skin, heart and bone, and related phenotype is muscle.

Related Diseases for Congenital Contractures

Diseases related to Congenital Contractures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 31.4 CHRNG RYR1
2 anterior horn cell disease 29.5 UBA1 VRK1
3 muscular atrophy 29.2 ASCC1 TRIP4 UBA1 VRK1
4 distal arthrogryposis 29.0 NALCN RYR1 TNNT3
5 spinal muscular atrophy 28.8 ASCC1 TRIP4 UBA1 VRK1
6 lethal congenital contracture syndrome 1 12.4
7 lethal congenital contracture syndrome 2 12.4
8 lethal congenital contracture syndrome 4 12.3
9 lethal congenital contracture syndrome 12.3
10 lethal congenital contracture syndrome 6 12.3
11 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.3
12 lethal congenital contracture syndrome 3 12.3
13 lethal congenital contracture syndrome 11 12.3
14 lethal congenital contracture syndrome 5 12.2
15 lethal congenital contracture syndrome 7 12.2
16 lethal congenital contracture syndrome 8 12.2
17 lethal congenital contracture syndrome 9 12.2
18 lethal congenital contracture syndrome 10 12.2
19 arthrogryposis, distal, type 9 12.0
20 van den ende-gupta syndrome 11.3
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.1
22 wieacker-wolff syndrome 11.1
23 marfan syndrome 11.1
24 spinal muscular atrophy, x-linked 2 11.0
25 ehlers-danlos syndrome, musculocontractural type, 1 10.9
26 holoprosencephaly with fetal akinesia/hypokinesia sequence 10.8
27 miles-carpenter syndrome 10.8
28 intellectual disability-developmental delay-contractures syndrome 10.8
29 marden walker like syndrome 10.8
30 windblown hand 10.8
31 arthrogryposis multiplex congenita, neurogenic type 10.7
32 rhizomelic chondrodysplasia punctata, type 1 10.7
33 rhizomelic chondrodysplasia punctata, type 2 10.7
34 muscular dystrophy-dystroglycanopathy , type a, 1 10.7
35 bruck syndrome 1 10.7
36 spinal muscular atrophy, type i, with congenital bone fractures 10.7
37 rhizomelic chondrodysplasia punctata, type 3 10.7
38 pontocerebellar hypoplasia, type 1a 10.7
39 lethal arthrogryposis with anterior horn cell disease 10.7
40 nemaline myopathy 10 10.7
41 rhizomelic chondrodysplasia punctata, type 5 10.7
42 spinal muscular atrophy with congenital bone fractures 2 10.7
43 bruck syndrome 10.7
44 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.2
45 digitotalar dysmorphism 10.1 NALCN TNNT3
46 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.1 ASCC1 TRIP4
47 congenital structural myopathy 10.1 LMOD3 RYR1
48 multiple pterygium syndrome, lethal type 10.1 CHRNG RYR1
49 arthrogryposis, distal, type 5 10.0 NALCN TNNT3
50 leukoencephalopathy, brain calcifications, and cysts 9.8

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



Diseases related to Congenital Contractures

Symptoms & Phenotypes for Congenital Contractures

MGI Mouse Phenotypes related to Congenital Contractures:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CHRNG LMOD3 PLOD1 RYR1 TNNT3

Drugs & Therapeutics for Congenital Contractures

Search Clinical Trials , NIH Clinical Center for Congenital Contractures

Genetic Tests for Congenital Contractures

Genetic tests related to Congenital Contractures:

# Genetic test Affiliating Genes
1 Congenital Contracture 28

Anatomical Context for Congenital Contractures

MalaCards organs/tissues related to Congenital Contractures:

38
Skin, Heart, Bone

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 133)
# Title Authors Year
1
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
2
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
3
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ( 28726266 )
2017
4
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
5
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
6
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
7
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
8
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
9
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
10
Aortic aneurysm in three siblings with multiple congenital contractures. ( 24977674 )
2014
11
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
12
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. ( 24704792 )
2014
13
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
14
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. ( 23808592 )
2013
15
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. ( 23296716 )
2013
16
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
17
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
18
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
19
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. ( 22888032 )
2012
20
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
21
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. ( 21157886 )
2010
22
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ( 20503305 )
2010
23
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
24
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
25
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
26
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. ( 18718019 )
2008
27
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
28
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
29
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
30
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
31
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
32
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
33
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
34
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
35
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
36
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
37
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
38
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
39
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
40
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )
2004
41
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
42
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
43
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
44
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003
45
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
46
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002
47
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
48
Multiple congenital contractures: birth prevalence, etiology, and outcome. ( 11815765 )
2002
49
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
50
Multiple congenital contractures (congenital multiple arthrogryposis). ( 11933662 )
2002

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh37 Chromosome 19, 38990358: 38990358

Expression for Congenital Contractures

Search GEO for disease gene expression data for Congenital Contractures.

Pathways for Congenital Contractures

GO Terms for Congenital Contractures

Cellular components related to Congenital Contractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.96 ASCC1 TRIP4
2 rough endoplasmic reticulum membrane GO:0030867 8.62 PLOD1 UBA1

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.96 LMOD3 RYR1
2 muscle contraction GO:0006936 8.8 CHRNG LMOD3 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 tropomyosin binding GO:0005523 8.62 LMOD3 TNNT3

Sources for Congenital Contractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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