MCID: CNG065
MIFTS: 26

Congenital Contractures

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

MalaCards integrated aliases for Congenital Contractures:

Name: Congenital Contractures 53
Congenital Contracture 29 6

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures, also known as congenital contracture, is related to anterior horn cell disease and arthrogryposis, distal, type 5. An important gene associated with Congenital Contractures is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skin, heart and bone.

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 88)
# Related Disease Score Top Affiliating Genes
1 anterior horn cell disease 29.7 UBA1 VRK1
2 arthrogryposis, distal, type 5 29.6 NALCN TNNT3
3 muscular atrophy 29.1 ASCC1 TRIP4 UBA1 VRK1
4 spinal muscular atrophy 28.7 ASCC1 TRIP4 UBA1 VRK1
5 distal arthrogryposis 28.2 NALCN RYR1 TNNT3
6 lethal congenital contracture syndrome 1 12.4
7 lethal congenital contracture syndrome 2 12.4
8 lethal congenital contracture syndrome 12.3
9 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.3
10 lethal congenital contracture syndrome 3 12.3
11 lethal congenital contracture syndrome 11 12.3
12 lethal congenital contracture syndrome 4 12.3
13 lethal congenital contracture syndrome 7 12.2
14 lethal congenital contracture syndrome 8 12.2
15 lethal congenital contracture syndrome 5 12.2
16 lethal congenital contracture syndrome 6 12.2
17 lethal congenital contracture syndrome 9 12.2
18 lethal congenital contracture syndrome 10 12.2
19 arthrogryposis, distal, type 9 12.1
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 10.9
25 multiple pterygium syndrome, escobar variant 10.9
26 ehlers-danlos syndrome, musculocontractural type, 1 10.9
27 holoprosencephaly with fetal akinesia/hypokinesia sequence 10.8
28 miles-carpenter syndrome 10.8
29 intellectual disability-developmental delay-contractures syndrome 10.8
30 marden walker like syndrome 10.8
31 windblown hand 10.8
32 arthrogryposis multiplex congenita, neurogenic type 10.7
33 rhizomelic chondrodysplasia punctata, type 1 10.7
34 rhizomelic chondrodysplasia punctata, type 2 10.7
35 muscular dystrophy-dystroglycanopathy , type a, 1 10.7
36 bruck syndrome 1 10.7
37 spinal muscular atrophy, type i, with congenital bone fractures 10.7
38 rhizomelic chondrodysplasia punctata, type 3 10.7
39 pontocerebellar hypoplasia, type 1a 10.7
40 lethal arthrogryposis with anterior horn cell disease 10.7
41 nemaline myopathy 10 10.7
42 rhizomelic chondrodysplasia punctata, type 5 10.7
43 spinal muscular atrophy with congenital bone fractures 2 10.7
44 bruck syndrome 10.7
45 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.3 ASCC1 TRIP4
46 digitotalar dysmorphism 10.2 NALCN TNNT3
47 brittle cornea syndrome 2 9.9 CHST14 PLOD1
48 congenital structural myopathy 9.8 LMOD3 RYR1
49 isolated ectopia lentis 9.8
50 blepharophimosis 9.8

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



Diseases related to Congenital Contractures

Symptoms & Phenotypes for Congenital Contractures

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 29

Anatomical Context for Congenital Contractures

MalaCards organs/tissues related to Congenital Contractures:

41
Skin, Heart, Bone

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 136)
# Title Authors Year
1
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. ( 29575618 )
2018
2
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
3
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ( 28726266 )
2017
4
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. ( 28379158 )
2017
5
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. ( 27196565 )
2016
6
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
7
Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. ( 25493702 )
2015
8
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. ( 25834781 )
2015
9
Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ( 25975422 )
2015
10
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. ( 24704792 )
2014
11
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. ( 24585410 )
2014
12
Aortic aneurysm in three siblings with multiple congenital contractures. ( 24977674 )
2014
13
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
14
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
15
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. ( 23595522 )
2013
16
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. ( 23296716 )
2013
17
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. ( 23808592 )
2013
18
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. ( 22888032 )
2012
19
Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. ( 22325249 )
2012
20
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
21
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
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
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. ( 21157886 )
2010
24
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. ( 19473076 )
2009
25
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. ( 19006240 )
2009
26
[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. ( 18646717 )
2008
27
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. ( 18718019 )
2008
28
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
29
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ( 17345643 )
2007
30
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
31
Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). ( 17520759 )
2007
32
Congenital contractural arachnodactyly (Beals syndrome). ( 16740166 )
2006
33
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. ( 16531736 )
2006
34
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
35
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ( 17106180 )
2006
36
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
37
[Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ( 15912465 )
2005
38
Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. ( 16440887 )
2005
39
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )
2004
40
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 15646904 )
2004
41
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? ( 15017482 )
2004
42
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. ( 15121784 )
2004
43
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
44
Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ( 14649616 )
2003
45
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003
46
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. ( 12383326 )
2002
47
Multiple congenital contractures (congenital multiple arthrogryposis). ( 11933662 )
2002
48
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. ( 12522281 )
2002
49
Multiple congenital contractures: birth prevalence, etiology, and outcome. ( 11815765 )
2002
50
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. ( 11754102 )
2002

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
2 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
3 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh37 Chromosome 2, 238271991: 238271991
4 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh38 Chromosome 2, 237363348: 237363348
5 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh38 Chromosome 19, 38499718: 38499718
6 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh37 Chromosome 19, 38990358: 38990358
7 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh37 Chromosome 15, 51696600: 51696600
8 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh38 Chromosome 15, 51404403: 51404403

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 8.92 CHRNG LMOD3 RYR1 TNNT3

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 NALCN RYR1
2 tropomyosin binding GO:0005523 8.62 LMOD3 TNNT3

Sources for Congenital Contractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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