MDCL
MCID: MSC124
MIFTS: 55

Muscular Dystrophy, Congenital (MDCL) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Muscular Dystrophy, Congenital

Aliases & Descriptions for Muscular Dystrophy, Congenital:

Name: Muscular Dystrophy, Congenital 54 13
Congenital Muscular Dystrophy 12 23 50 24 29 14 69
Muscular Dystrophy, Congenital, Lmna-Related 54 69
Cmd 50 24
Congenital Muscular Dystrophy Due to Lmna Mutation 56
Lmna-Related Congenital Muscular Dystrophy 56
Muscular Dystrophy Congenital Lmna-Related 66
Congenital Md 50
L-Cmd 56
Mdcl 66
Mdc 50

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy due to lmna mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
muscular dystrophy, congenital:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 613205
Disease Ontology 12 DOID:0050557
ICD9CM 35 359.0
Orphanet 56 ORPHA157973
ICD10 via Orphanet 34 G71.2
MedGen 40 C2750785
MeSH 42 D009136
UMLS 69 C2937300

Summaries for Muscular Dystrophy, Congenital

NIH Rare Diseases : 50 congenital muscular dystrophy (cmd) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. the severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). cmd can be caused by a variety of different genes. most forms are inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/22/2015

MalaCards based summary : Muscular Dystrophy, Congenital, also known as congenital muscular dystrophy, is related to muscular dystrophy, rigid spine, 1 and ullrich congenital muscular dystrophy 1, and has symptoms including flexion contracture, decreased fetal movement and spinal rigidity. An important gene associated with Muscular Dystrophy, Congenital is LMNA (Lamin A/C), and among its related pathways/superpathways are Focal Adhesion and PI3K-Akt signaling pathway. The drugs Lamotrigine and Vitamin C have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

UniProtKB/Swiss-Prot : 66 Muscular dystrophy congenital LMNA-related: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

Wikipedia : 71 Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of... more...

Description from OMIM: 613205
GeneReviews: NBK1291

Related Diseases for Muscular Dystrophy, Congenital

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital Muscular Dystrophy, Congenital, 1b
Congenital Muscular Dystrophy Due to Lmna Mutation Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

Diseases related to Muscular Dystrophy, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, rigid spine, 1 31.4 COL6A2 DMD LAMA2 MDCMP SELENON
2 ullrich congenital muscular dystrophy 1 31.1 COL6A1 COL6A2 COL6A3 DMD LAMA2 LMNA
3 muscular dystrophy, congenital, due to itga7 deficiency 12.2
4 muscular dystrophy, congenital merosin-deficient 12.0
5 muscular dystrophy, congenital, megaconial type 12.0
6 muscular dystrophy, congenital, 1b 11.9
7 muscular dystrophy, congenital, merosin-positive 11.9
8 muscular dystrophy, congenital, producing arthrogryposis 11.9
9 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.9
10 craniometaphyseal dysplasia 11.6
11 congenital muscular dystrophy type 1a 11.1
12 congenital muscular dystrophy due to lmna mutation 11.1
13 muscular dystrophy-dystroglycanopathy , type a, 4 11.1
14 fukuyama type muscular dystrophy 11.0
15 muscular dystrophy-dystroglycanopathy , type b, 5 11.0
16 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
17 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
18 muscular dystrophy-dystroglycanopathy , type b, 2 10.8
19 fkrp-related muscle diseases 10.8
20 selenon-related multiminicore disease 10.8
21 muscular dystrophy-dystroglycanopathy , type b, 6 10.8
22 muscular dystrophy-dystroglycanopathy , type b, 3 10.8
23 muscular dystrophy-dystroglycanopathy , type b, 4 10.8
24 lama2-related muscular dystrophy 10.8
25 muscular dystrophy 10.5
26 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DMD UTRN
27 intrauterine growth retardation - mandibular malar hypoplasia 10.2 FKRP FKTN
28 rubinstein-taybi syndrome 2 10.2 CHKB LAMA2
29 arthrogryposis, distal, type 8 10.2 COL6A1 COL6A2 LMNA
30 sdhc-related paraganglioma and gastric stromal sarcoma 10.2 DAG1 DMD UTRN
31 cardiomyopathy, familial restrictive, 3 10.1 DAG1 DMD LAMA2
32 pancreatic agenesis 1 10.1 DAG1 DMD
33 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.1 FKRP FKTN POMT1
34 microcephaly and chorioretinopathy 2 10.1 DMD ITGA7 LMNA SELENON
35 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 FKRP FKTN POMT1
36 autosomal recessive nonsyndromic deafness 47 10.1 DAG1 DMD FKTN LAMA2
37 lipodystrophy, familial partial, 2 10.1 DAG1 DMD LAMA2 LMNA
38 parametrium malignant neoplasm 10.1 CHKB DMD LAMA2 LMNA
39 phototoxic dermatitis 10.1 DMD LAMA2 UTRN
40 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 DMD FKRP POMT1
41 thrombocytopenia, x-linked 10.1 DMD FKRP LAMA2 UTRN
42 nephronophthisis 2, infantile 10.1 FKRP FKTN POMT2
43 sudden infant death with dysgenesis of the testes syndrome 10.0 DAG1 DMD FKTN LAMA2 LMNA
44 prosthetic joint infection 10.0 DMD FKRP POMT2
45 microcephaly and chorioretinopathy 1 10.0 COL6A3 DMD ITGA7
46 dfna2 nonsyndromic hearing loss 10.0 COL6A1 COL6A2 COL6A3
47 immunodeficiency 34, mycobacteriosis, x-linked 10.0 CHKB DAG1 DMD ITGA7 UTRN
48 epileptic encephalopathy, early infantile, 4 10.0 POMT1 POMT2
49 cdkl5-related angelman-like syndrome 10.0 DAG1 DMD FKTN LAMA2 LMNA
50 deafness, autosomal recessive 18b 9.9 FKRP FKTN POMT1 POMT2

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital:



Diseases related to Muscular Dystrophy, Congenital

Symptoms & Phenotypes for Muscular Dystrophy, Congenital

Symptoms by clinical synopsis from OMIM:

613205

Clinical features from OMIM:

613205

Human phenotypes related to Muscular Dystrophy, Congenital:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flexion contracture 56 32 Frequent (79-30%) HP:0001371
2 decreased fetal movement 56 32 Occasional (29-5%) HP:0001558
3 spinal rigidity 56 32 Frequent (79-30%) HP:0003306
4 talipes 56 32 Occasional (29-5%) HP:0001883
5 cachexia 56 Occasional (29-5%)
6 muscular hypotonia 56 Frequent (79-30%)
7 gait disturbance 56 Frequent (79-30%)
8 failure to thrive 32 HP:0001508
9 respiratory insufficiency 56 Frequent (79-30%)
10 hyperlordosis 56 Frequent (79-30%)
11 global developmental delay 56 Frequent (79-30%)
12 myopathy 56 Frequent (79-30%)
13 respiratory insufficiency due to muscle weakness 32 HP:0002747
14 elevated serum creatine phosphokinase 32 HP:0003236
15 emg abnormality 56 Frequent (79-30%)
16 arrhythmia 56 Occasional (29-5%)
17 skeletal muscle atrophy 56 Frequent (79-30%)
18 feeding difficulties 56 Frequent (79-30%)
19 narrow chest 56 Occasional (29-5%)
20 death in infancy 56 Occasional (29-5%)
21 joint hyperflexibility 56 Occasional (29-5%)
22 congestive heart failure 56 Occasional (29-5%)
23 limitation of joint mobility 56 Frequent (79-30%)
24 motor delay 32 HP:0001270
25 congenital muscular dystrophy 32 HP:0003741
26 poor head control 56 Very frequent (99-80%)
27 generalized amyotrophy 32 HP:0003700
28 axial muscle weakness 56 Very frequent (99-80%)
29 severe muscular hypotonia 32 HP:0006829
30 neck muscle weakness 32 HP:0000467

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ITGA7 LAMA2 LARGE1 LMNA POMGNT1 SELENON
2 growth/size/body region MP:0005378 10.21 COL6A2 COL6A3 DAG1 DMD FKRP FKTN
3 cellular MP:0005384 10.14 DMD FKRP FKTN ITGA7 LAMA2 LMNA
4 homeostasis/metabolism MP:0005376 10.1 CHKB DAG1 DMD FKRP FKTN ITGA7
5 mortality/aging MP:0010768 10.03 LMNA POMGNT1 POMT1 POMT2 UTRN DAG1
6 muscle MP:0005369 10.03 FKRP FKTN ITGA7 LAMA2 LARGE1 LMNA
7 nervous system MP:0003631 9.73 CHKB DAG1 DMD FKRP FKTN ITGA7
8 skeleton MP:0005390 9.32 FKRP ITGA7 LAMA2 LARGE1 LMNA SELENON

Drugs & Therapeutics for Muscular Dystrophy, Congenital

Drugs for Muscular Dystrophy, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
3 4-des-dimethylaminotetracycline Phase 2, Phase 3
4 calcium channel blockers Phase 3
5 Sodium Channel Blockers Phase 3,Phase 2
6 Neurotransmitter Agents Phase 3
7 Trace Elements Phase 2, Phase 3
8 Diuretics, Potassium Sparing Phase 3,Phase 2
9 Vitamins Phase 2, Phase 3
10 Excitatory Amino Acid Antagonists Phase 3
11 Excitatory Amino Acids Phase 3
12 Anticonvulsants Phase 3
13 Protective Agents Phase 2, Phase 3
14 Micronutrients Phase 2, Phase 3
15 Antioxidants Phase 2, Phase 3
16 Calcium, Dietary Phase 3
17
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
18
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
19 Anabolic Agents Phase 1
20 Hormone Antagonists Phase 1
21 Androgens Phase 1
22 Hormones Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
24
Menthol Approved 2216-51-5 16666
25
protease inhibitors
26 HIV Protease Inhibitors
27 Vaccines
28 Matrix Metalloproteinase Inhibitors
29 Pharmaceutical Solutions

Interventional clinical trials:

(show all 44)
id Name Status NCT ID Phase
1 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
2 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
3 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
4 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
5 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2
6 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2
7 Pediatric Radio Frequency Coils Generic Recruiting NCT01633866 Phase 1, Phase 2
8 Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) Recruiting NCT01805024 Phase 1
9 Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants Active, not recruiting NCT01048632 Phase 1
10 Flu Vaccine Study in Neuromuscular Patients 2011 Unknown status NCT01422200
11 WREX Outcome Study Unknown status NCT02218593
12 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Unknown status NCT02194010
13 Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT Unknown status NCT01203085
14 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
15 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
16 A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy Completed NCT01836627
17 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
18 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
19 Study of Electrical Impedance Myography (EIM) in ALS Completed NCT02011204
20 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
21 Development and Validation of a Disability Severity Index for CMT Completed NCT01455623
22 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
23 Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy Recruiting NCT02153970
24 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
25 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
26 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
27 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059
28 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
29 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
30 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
31 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Recruiting NCT02428673
32 Myotonic Dystrophy Family Registry Recruiting NCT02398786
33 A Peer E-mentoring Intervention to Improve Employment Recruiting NCT02522507
34 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
35 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
36 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
37 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
38 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
39 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
40 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
41 Cohort Description of Younger With AV-block Not yet recruiting NCT03024047
42 European Home Mechanical Ventilation Registry Terminated NCT02315339
43 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028
44 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221

Search NIH Clinical Center for Muscular Dystrophy, Congenital

Genetic Tests for Muscular Dystrophy, Congenital

Genetic tests related to Muscular Dystrophy, Congenital:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy 29 24 SELENON

Anatomical Context for Muscular Dystrophy, Congenital

MalaCards organs/tissues related to Muscular Dystrophy, Congenital:

39
Heart, Skeletal Muscle

Publications for Muscular Dystrophy, Congenital

Articles related to Muscular Dystrophy, Congenital:

id Title Authors Year
1
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. ( 14659414 )
2004

Variations for Muscular Dystrophy, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital:

66
id Symbol AA change Variation ID SNP ID
1 LMNA p.Arg50Pro VAR_009972 rs60695352
2 LMNA p.Glu358Lys VAR_009985 rs60458016
3 LMNA p.Asn39Ser VAR_063588 rs57983345
4 LMNA p.Arg249Trp VAR_063589 rs121912496
5 LMNA p.Leu302Pro VAR_063590 rs267607596
6 LMNA p.Leu380Ser VAR_063591 rs121912495
7 LMNA p.Arg453Pro VAR_063592 rs267607598
8 LMNA p.Arg455Pro VAR_063593 rs267607597
9 LMNA p.Asn456Asp VAR_063594 rs267607599

ClinVar genetic disease variations for Muscular Dystrophy, Congenital:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.428C> T (p.Ser143Phe) single nucleotide variant Pathogenic rs58912633 GRCh37 Chromosome 1, 156100479: 156100479
2 LMNA NM_170707.3(LMNA): c.1139T> C (p.Leu380Ser) single nucleotide variant Pathogenic rs121912495 GRCh37 Chromosome 1, 156105894: 156105894
3 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
4 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
5 LMNA LMNA, 3-BP DEL, 94AAG deletion Pathogenic
6 CAPN3 NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
7 LMNA NM_170707.3(LMNA): c.1381-2A> G single nucleotide variant Likely pathogenic rs267607600 GRCh37 Chromosome 1, 156106710: 156106710
8 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh38 Chromosome 1, 156134976: 156134976
9 LMNA NM_170707.3(LMNA): c.91_93delGAG (p.Glu31del) deletion Likely pathogenic rs864309525 GRCh37 Chromosome 1, 156084800: 156084802
10 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727

Expression for Muscular Dystrophy, Congenital

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital.

Pathways for Muscular Dystrophy, Congenital

Pathways related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 COL6A1 COL6A2 COL6A3 ITGA7 LAMA2
2 12.41 COL6A1 COL6A2 COL6A3 ITGA7 LAMA2
3
Show member pathways
12.35 COL6A1 COL6A2 COL6A3 DAG1 DMD ITGA7
4
Show member pathways
12.21 DAG1 DMD ITGA7 LAMA2 LMNA
5
Show member pathways
11.98 DAG1 LARGE1 POMGNT1 POMT1 POMT2
6
Show member pathways
11.89 DAG1 DMD ITGA7 LAMA2 LMNA
7
Show member pathways
11.61 COL6A1 COL6A2 COL6A3 DAG1 ITGA7 LAMA2
8
Show member pathways
11.53 DAG1 DMD LAMA2
9 11.44 DAG1 ITGA7 LAMA2
10 11.42 DAG1 LAMA2 UTRN
11 11.27 COL6A1 COL6A2 COL6A3
12 11.18 COL6A1 COL6A2 COL6A3
13 10.89 POMT1 POMT2
14 10.82 DAG1 DMD LAMA2
15 10.46 FKRP FKTN LARGE1 POMGNT1 POMT1 POMT2

GO Terms for Muscular Dystrophy, Congenital

Cellular components related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.88 FKRP FKTN LARGE1 MGAT4C POMGNT1
2 proteinaceous extracellular matrix GO:0005578 9.83 COL6A1 COL6A2 COL6A3 LAMA2
3 endoplasmic reticulum lumen GO:0005788 9.73 COL6A1 COL6A2 COL6A3 DAG1
4 extracellular matrix GO:0031012 9.65 COL6A1 COL6A2 COL6A3 LAMA2 LMNA
5 collagen trimer GO:0005581 9.58 COL6A1 COL6A2 COL6A3
6 filopodium GO:0030175 9.54 DAG1 DMD UTRN
7 costamere GO:0043034 9.49 DAG1 DMD
8 filopodium membrane GO:0031527 9.46 DMD UTRN
9 contractile ring GO:0070938 9.32 DAG1 UTRN
10 dystrophin-associated glycoprotein complex GO:0016010 9.26 DAG1 DMD FKRP UTRN
11 sarcolemma GO:0042383 9.23 COL6A1 COL6A2 COL6A3 DAG1 DMD FKRP
12 collagen type VI trimer GO:0005589 9.16 COL6A1 COL6A3
13 extracellular space GO:0005615 10.05 COL6A1 COL6A2 COL6A3 DAG1 FKRP FKTN

Biological processes related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.97 COL6A1 COL6A2 COL6A3 ITGA7 LAMA2
2 extracellular matrix organization GO:0030198 9.87 COL6A1 COL6A2 COL6A3 DAG1 ITGA7 LAMA2
3 muscle organ development GO:0007517 9.73 COL6A3 DMD FKTN ITGA7 LAMA2 UTRN
4 skeletal muscle tissue regeneration GO:0043403 9.67 DAG1 DMD LARGE1 SELENON
5 collagen catabolic process GO:0030574 9.65 COL6A1 COL6A2 COL6A3
6 positive regulation of cell-matrix adhesion GO:0001954 9.58 DAG1 UTRN
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 DAG1 DMD UTRN
8 muscle cell cellular homeostasis GO:0046716 9.56 DMD LARGE1
9 mannosylation GO:0097502 9.55 POMT1 POMT2
10 protein O-linked glycosylation GO:0006493 9.55 DAG1 LARGE1 POMGNT1 POMT1 POMT2
11 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.54 DMD SELENON
12 protein heterotrimerization GO:0070208 9.52 COL6A1 COL6A2
13 ER-associated misfolded protein catabolic process GO:0071712 9.51 POMT1 POMT2
14 protein glycosylation GO:0006486 9.5 FKRP FKTN LARGE1 MGAT4C POMGNT1 POMT1
15 Schwann cell differentiation GO:0014037 9.49 DAG1 LAMA2
16 glycoprotein biosynthetic process GO:0009101 9.46 FKRP LARGE1
17 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
18 protein O-linked mannosylation GO:0035269 9.02 FKRP FKTN LARGE1 POMT1 POMT2

Molecular functions related to Muscular Dystrophy, Congenital according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.92 CHKB FKRP FKTN LARGE1 MGAT4C POMGNT1
2 acetylglucosaminyltransferase activity GO:0008375 9.37 LARGE1 POMGNT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.35 LARGE1 MGAT4C POMGNT1 POMT1 POMT2
4 dystroglycan binding GO:0002162 9.26 DAG1 DMD
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
6 vinculin binding GO:0017166 8.8 DAG1 DMD UTRN

Sources for Muscular Dystrophy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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