MCID: CNG065
MIFTS: 27

Congenital Contractures

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

MalaCards integrated aliases for Congenital Contractures:

Name: Congenital Contractures 52
Congenital Contracture 29 6

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures, also known as congenital contracture, is related to lethal congenital contracture syndrome 2 and congenital contractures of the limbs and face, hypotonia, and developmental delay. An important gene associated with Congenital Contractures is GLDN (Gliomedin). Affiliated tissues include skeletal muscle, bone and spinal cord, and related phenotype is mortality/aging.

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 160)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 2 34.4 TRIP4 ASCC1
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 34.2 NALCN-AS1 NALCN
3 arthrogryposis, distal, type 1a 31.9 RYR1 ASCC1
4 arthrogryposis, distal, type 2b1 31.5 TNNT3 NALCN
5 multiple pterygium syndrome, escobar variant 31.4 TNNT3 RYR1 LMOD3 CHRNG
6 scoliosis 29.8 ZC4H2 RYR1 PLOD1 CHRNG
7 anterior horn cell disease 29.7 VRK1 UBA1
8 distal arthrogryposis 29.4 ZC4H2 TNNT3 RYR1 NALCN LMOD3 GLDN
9 muscular atrophy 29.2 VRK1 UBA1 TRIP4 RYR1 ASCC1
10 neuromuscular disease 29.0 RYR1 CHRNG ASCC1
11 spinal muscular atrophy 29.0 VRK1 UBA1 TRIP4 RYR1 ASCC1
12 lethal congenital contracture syndrome 1 12.7
13 lethal congenital contracture syndrome 11 12.7
14 lethal congenital contracture syndrome 4 12.7
15 lethal congenital contracture syndrome 12.6
16 lethal congenital contracture syndrome 8 12.6
17 lethal congenital contracture syndrome 6 12.6
18 lethal congenital contracture syndrome 3 12.6
19 lethal congenital contracture syndrome 5 12.5
20 lethal congenital contracture syndrome 7 12.5
21 lethal congenital contracture syndrome 9 12.5
22 lethal congenital contracture syndrome 10 12.5
23 contractural arachnodactyly, congenital 12.4
24 wieacker-wolff syndrome 12.1
25 van den ende-gupta syndrome 11.7
26 spinal muscular atrophy, x-linked 2 11.5
27 ehlers-danlos syndrome, musculocontractural type, 1 11.5
28 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.5
29 marfan syndrome 11.4
30 bruck syndrome 11.3
31 arthrogryposis, distal, type 2a 11.3
32 bruck syndrome 1 11.3
33 arthrogryposis, distal, type 2b2 11.3
34 musculocontractural ehlers-danlos syndrome 11.3
35 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.1
36 miles-carpenter syndrome 11.1
37 windblown hand 11.1
38 arthrogryposis, distal, type 5 11.0
39 arthrogryposis multiplex congenita, neurogenic type 11.0
40 rhizomelic chondrodysplasia punctata, type 1 11.0
41 rhizomelic chondrodysplasia punctata, type 2 11.0
42 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
43 spinal muscular atrophy, type i, with congenital bone fractures 11.0
44 rhizomelic chondrodysplasia punctata, type 3 11.0
45 pontocerebellar hypoplasia, type 1a 11.0
46 congenital arthrogryposis with anterior horn cell disease 11.0
47 nemaline myopathy 10 11.0
48 rhizomelic chondrodysplasia punctata, type 5 11.0
49 spinal muscular atrophy with congenital bone fractures 2 11.0
50 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.0

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ASCC1 CHRNG CHST14 GLDN LMOD3 NALCN

Drugs & Therapeutics for Congenital Contractures

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402

Search 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:

40
Skeletal Muscle, Bone, Spinal Cord, Skin, Brain

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(show top 50) (show all 301)
# Title Authors PMID Year
1
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
2
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
3
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
4
Expanding the clinical and molecular spectrum of Lethal Congenital Contracture Syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2019
5
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture. 61
31752936 2019
6
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. 61
31368648 2019
7
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. 61
31318155 2019
8
Gene ontology analysis of arthrogryposis (multiple congenital contractures). 61
31369690 2019
9
A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). 61
31373772 2019
10
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. 61
31099966 2019
11
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. 61
31409833 2019
12
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil. 61
31365112 2019
13
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
14
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. 61
30868735 2019
15
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019
16
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E. 61
31064215 2019
17
Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population. 61
31105263 2019
18
MET mutation causes muscular dysplasia and arthrogryposis. 61
30777867 2019
19
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders. 61
30741031 2019
20
Ocular Manifestations and Visual Outcome in Children With Congenital Zika Syndrome. 61
30817677 2019
21
Recognizing Congenital Pressure Injuries: A Case Series. 61
30543560 2019
22
Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D). 61
31555621 2019
23
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 61
30549416 2019
24
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. 61
30230566 2019
25
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 61
30343943 2018
26
Use Of Ankle Immobilization In Evaluating Treatments To Promote Longitudinal Muscle Growth In Mice. 61
29981243 2018
27
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 61
30054298 2018
28
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 61
30167850 2018
29
Taking the defensive: Immune control of Zika virus infection. 61
28867493 2018
30
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. 61
29961027 2018
31
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 61
29691892 2018
32
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. 61
29575618 2018
33
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. 61
29254829 2018
34
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. 61
28971531 2018
35
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. 61
29274205 2018
36
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. 61
29379570 2018
37
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. 61
28657126 2018
38
Wieacker-Wolff syndrome with associated cleft palate in a female case. 61
29150902 2018
39
Zika Virus Infection in Pregnancy: Maternal, Fetal, and Neonatal Considerations. 61
29267916 2017
40
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 61
28884921 2017
41
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. 61
29132416 2017
42
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). 61
28726266 2017
43
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 61
28733338 2017
44
Genetics and Classifications. 61
28594686 2017
45
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report. 61
27987045 2017
46
[Femur fracture in a patient with dog-leg deformity secondary to arthrogryposis. Description of a unique osteosynthesis method]. 61
29216707 2017
47
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. 61
27812690 2017
48
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? 61
28209770 2017
49
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 61
27684565 2017
50
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. 61
28163941 2017

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys)SNV Pathogenic 374164 rs1057518940 19:38990358-38990358 19:38499718-38499718
2 GLDN NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)SNV Pathogenic/Likely pathogenic 488521 rs775011495 15:51696600-51696600 15:51404403-51404403
3 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
4 COL6A3 NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp)SNV Conflicting interpretations of pathogenicity 285696 rs146546544 2:238271991-238271991 2:237363348-237363348
5 KIF1B NM_015074.3(KIF1B):c.1977+6205C>TSNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451
6 PIEZO2 NM_022068.3(PIEZO2):c.8196A>G (p.Lys2732=)SNV Uncertain significance 560382 18:10671587-10671587 18:10671590-10671590
7 PIEZO2 NM_022068.3(PIEZO2):c.6314C>G (p.Pro2105Arg)SNV Uncertain significance 560383 rs1567961103 18:10698964-10698964 18:10698966-10698966

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 UBA1 PLOD1

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 RYR1 LMOD3
2 muscle contraction GO:0006936 8.92 TNNT3 RYR1 LMOD3 CHRNG

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 TNNT3 LMOD3

Sources for Congenital Contractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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