MCID: CNG065
MIFTS: 25

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 muscular atrophy and anterior horn cell disease. An important gene associated with Congenital Contractures is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skin, lung 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 86)
# Related Disease Score Top Affiliating Genes
1 muscular atrophy 29.8 ASCC1 TRIP4 UBA1 VRK1
2 anterior horn cell disease 29.7 UBA1 VRK1
3 arthrogryposis, distal, type 5 29.6 NALCN TNNT3
4 spinal muscular atrophy 29.3 ASCC1 TRIP4 UBA1 VRK1
5 scoliosis 29.3 CHRNG PLOD1 RYR1
6 lethal congenital contracture syndrome 1 12.6
7 lethal congenital contracture syndrome 12.4
8 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.4
9 lethal congenital contracture syndrome 2 12.4
10 lethal congenital contracture syndrome 3 12.4
11 lethal congenital contracture syndrome 11 12.4
12 lethal congenital contracture syndrome 4 12.4
13 lethal congenital contracture syndrome 5 12.4
14 lethal congenital contracture syndrome 7 12.4
15 lethal congenital contracture syndrome 8 12.4
16 lethal congenital contracture syndrome 6 12.3
17 lethal congenital contracture syndrome 9 12.3
18 lethal congenital contracture syndrome 10 12.3
19 arthrogryposis, distal, type 9 12.2
20 van den ende-gupta syndrome 11.4
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.3
22 wieacker-wolff syndrome 11.3
23 marfan syndrome 11.2
24 spinal muscular atrophy, x-linked 2 11.1
25 multiple pterygium syndrome, escobar variant 11.0
26 ehlers-danlos syndrome, musculocontractural type, 1 11.0
27 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.0
28 miles-carpenter syndrome 11.0
29 intellectual disability-developmental delay-contractures syndrome 11.0
30 marden walker like syndrome 11.0
31 windblown hand 11.0
32 arthrogryposis, distal, type 2a 10.9
33 arthrogryposis multiplex congenita, neurogenic type 10.9
34 rhizomelic chondrodysplasia punctata, type 1 10.9
35 rhizomelic chondrodysplasia punctata, type 2 10.9
36 muscular dystrophy-dystroglycanopathy , type a, 1 10.9
37 bruck syndrome 1 10.9
38 spinal muscular atrophy, type i, with congenital bone fractures 10.9
39 rhizomelic chondrodysplasia punctata, type 3 10.9
40 pontocerebellar hypoplasia, type 1a 10.9
41 lethal arthrogryposis with anterior horn cell disease 10.9
42 nemaline myopathy 10 10.9
43 rhizomelic chondrodysplasia punctata, type 5 10.9
44 spinal muscular atrophy with congenital bone fractures 2 10.9
45 bruck syndrome 10.9
46 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.1 ASCC1 TRIP4
47 digitotalar dysmorphism 10.0 NALCN TNNT3
48 brittle cornea syndrome 2 10.0 CHST14 PLOD1
49 multiple pterygium syndrome, lethal type 10.0 CHRNG RYR1
50 congenital structural myopathy 9.9 LMOD3 RYR1

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, Lung, Bone, Heart

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 70)
# 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
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. ( 29132416 )
2017
5
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
6
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. ( 24704792 )
2014
7
Aortic aneurysm in three siblings with multiple congenital contractures. ( 24977674 )
2014
8
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
9
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. ( 23808592 )
2014
10
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. ( 23712425 )
2013
11
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. ( 23296716 )
2013
12
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. ( 22888032 )
2012
13
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
14
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ( 20503305 )
2010
15
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. ( 21157886 )
2010
16
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. ( 18718019 )
2008
17
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
18
Congenital contracture of the quadriceps muscle: confirming the diagnosis with magnetic resonance imaging. ( 16837229 )
2006
19
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
20
Congenital contracture of the quadriceps muscle: a case report with magnetic resonance imaging. ( 14534799 )
2004
21
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
22
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. ( 12865991 )
2003
23
Multiple congenital contractures (congenital multiple arthrogryposis). ( 11933662 )
2002
24
Multiple congenital contractures: birth prevalence, etiology, and outcome. ( 11815765 )
2002
25
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
26
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. ( 9683599 )
1998
27
Hamstring shortening: postural defect or congenital contracture. ( 9481662 )
1998
28
Congenital contracture of the superficial flexor of the hand. ( 9949546 )
1998
29
Multiple congenital contractures. ( 9260645 )
1997
30
The dorsal transposition flap for congenital contractures of the first web space: a 20-year experience. ( 9260624 )
1997
31
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. ( 9125342 )
1996
32
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )
1995
33
Aplasia cutis congenita with congenital contracture of knee. ( 8984053 )
1995
34
Lethal congenital contracture syndrome: further delineation and genetic aspects. ( 7966188 )
1994
35
Infantile spinal amylotrophy Werding-Hoffman disease and congenital contractures. ( 8032025 )
1993
36
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. ( 7504881 )
1993
37
Paraplegia and congenital contractures as a consequence of intrauterine trauma. ( 1621769 )
1992
38
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. ( 1287175 )
1992
39
Multiple congenital contractures (MCC) and cleft palate induced in goats by ingestion of piperidine alkaloid-containing plants: reduction in fetal movement as the probable cause. ( 2381024 )
1990
40
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. ( 3346884 )
1988
41
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. ( 3189411 )
1988
42
Pursuing teratogenic causes of multiple congenital contractures. ( 3047415 )
1988
43
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. ( 3344776 )
1988
44
Congenital contracture of the infraspinous muscle. A case report. ( 3345137 )
1988
45
Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. ( 3295844 )
1987
46
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. ( 3561701 )
1987
47
Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). ( 3320905 )
1986
48
Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis). ( 3948960 )
1986
49
Muscle weakness and congenital contractures in a case of congenital myasthenia. ( 3958180 )
1986
50
An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. ( 3921377 )
1985

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
2 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
3 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
4 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
5 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh37 Chromosome 2, 238271991: 238271991
6 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh38 Chromosome 2, 237363348: 237363348
7 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh38 Chromosome 19, 38499718: 38499718
8 RYR1 NM_000540.2(RYR1): c.7111G> A (p.Glu2371Lys) single nucleotide variant Pathogenic rs1057518940 GRCh37 Chromosome 19, 38990358: 38990358
9 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh37 Chromosome 15, 51696600: 51696600
10 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh38 Chromosome 15, 51404403: 51404403
11 PIEZO2 NM_022068.3(PIEZO2): c.8196A> G (p.Lys2732=) single nucleotide variant Uncertain significance rs149395405 GRCh38 Chromosome 18, 10671590: 10671590
12 PIEZO2 NM_022068.3(PIEZO2): c.8196A> G (p.Lys2732=) single nucleotide variant Uncertain significance rs149395405 GRCh37 Chromosome 18, 10671587: 10671587
13 PIEZO2 NM_022068.3(PIEZO2): c.6314C> G (p.Pro2105Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 10698966: 10698966
14 PIEZO2 NM_022068.3(PIEZO2): c.6314C> G (p.Pro2105Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 10698964: 10698964

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 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 ion transmembrane transport GO:0034220 9.33 CHRNG NALCN RYR1
2 skeletal muscle fiber development GO:0048741 8.96 LMOD3 RYR1
3 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 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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