MCID: MSC165
MIFTS: 62

Muscular Dystrophy, Congenital, Lmna-Related

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Lmna-Related

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Lmna-Related:

Name: Muscular Dystrophy, Congenital, Lmna-Related 57 53 25 73
Congenital Muscular Dystrophy 12 24 53 29 6 15 73
Congenital Muscular Dystrophy Due to Lmna Mutation 12 53 59 15
Lmna-Related Congenital Muscular Dystrophy 12 53 25 59
L-Cmd 12 53 25 59
Mdcl 57 53 25 75
Congenital Muscular Dystrophy, Lmna-Related 29 6
Muscular Dystrophy, Congenital 57 13
Dystrophy, Muscular, Congenital, Lmna-Related 40
Congenital Muscular Dystrophy Lmna-Related 12
Muscular Dystrophy Congenital Lmna-Related 75
Congenital Muscular Dystrophies 37
Dystrophy, Muscular, Congenital 40
Lmna-Related Cmd 25
Congenital Md 53
Cmd 53
Mdc 53

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy due to lmna mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
prenatal onset or onset in infancy
patients who acquire ability to walk may lose it


HPO:

32
muscular dystrophy, congenital, lmna-related:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Congenital, Lmna-Related

NIH Rare Diseases : 53 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.

MalaCards based summary : Muscular Dystrophy, Congenital, Lmna-Related, also known as congenital muscular dystrophy, is related to muscular dystrophy, congenital merosin-deficient, 1a and muscular dystrophy, congenital, 1b. An important gene associated with Muscular Dystrophy, Congenital, Lmna-Related is LMNA (Lamin A/C), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Focal adhesion. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are muscular hypotonia and gait disturbance

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.

Genetics Home Reference : 25 LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.

UniProtKB/Swiss-Prot : 75 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 : 76 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, Lmna-Related

Diseases in the Muscular Dystrophy family:

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

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 33.3 DAG1 FKTN LAMA2 LMNA
2 muscular dystrophy, congenital, 1b 32.7 DAG1 FKRP FKTN LAMA2
3 congenital muscular dystrophy with intellectual disability 32.0 FKRP POMT1
4 cardiomyopathy, dilated, 1a 31.8 DAG1 EMD LAMA2 LMNA
5 congenital muscular dystrophy without intellectual disability 31.6 FKRP FKTN POMT1
6 congenital muscular dystrophy with cerebellar involvement 31.0 FKRP POMGNT1 POMT1
7 muscular dystrophy-dystroglycanopathy 30.7 FKRP POMGNT1 POMT1
8 ullrich congenital muscular dystrophy 1 30.5 COL6A1 COL6A2 FKBP14 LAMA2 LMNA
9 muscular dystrophy-dystroglycanopathy , type a, 4 29.2 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
10 dilated cardiomyopathy 28.0 DAG1 EMD FKRP FKTN LAMA2 LMNA
11 muscular dystrophy 25.5 COL6A1 COL6A2 DAG1 EMD FKRP FKTN
12 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 12.3
13 muscular dystrophy, congenital, davignon-chauveau type 12.2
14 muscular dystrophy, congenital, with cataracts and intellectual disability 12.2
15 muscular dystrophy, congenital, megaconial type 12.1
16 craniometaphyseal dysplasia, autosomal dominant 11.8
17 muscular dystrophy, congenital, merosin-positive 11.3
18 collagen vi related muscular dystrophy 11.0
19 campomelic dysplasia 10.8
20 craniometaphyseal dysplasia, autosomal recessive 10.8
21 barth syndrome 10.8
22 epileptic encephalopathy, early infantile, 36 10.8
23 salih myopathy 10.8
24 congenital disorder of glycosylation, type iu 10.8
25 congenital muscular dystrophy due to dystroglycanopathy 10.8
26 emerinopathy 10.8 EMD LMNA
27 cardiomyopathy, dilated, 1h 10.8 EMD LMNA
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.7 LMNA TTN
29 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.7 LMNA TTN
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.7 LMNA TTN
31 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.7 EMD LMNA
32 muscular dystrophy, limb-girdle, type 1b 10.6 EMD LMNA
33 pelger-huet anomaly 10.6 EMD LMNA
34 myopathy, x-linked, with excessive autophagy 10.5 EMD LAMA2
35 isolated hyperckemia 10.5 FKRP LAMA2
36 autosomal dominant limb-girdle muscular dystrophy 10.4 EMD LMNA
37 muscular dystrophy, limb-girdle, type 2j 10.4 FKRP TTN
38 neuromuscular disease 10.4 EMD LAMA2 TTN
39 muscular dystrophy, limb-girdle, type 2h 10.4 FKRP TTN
40 muscular dystrophy-dystroglycanopathy , type c, 4 10.4 FKRP FKTN
41 cardiomyopathy, dilated, 1b 10.3 DAG1 FKTN LAMA2
42 arrhythmogenic right ventricular cardiomyopathy 10.3 EMD LMNA TTN
43 collagen vi-related myopathy 10.3 COL6A1 COL6A2
44 muscular dystrophy, limb-girdle, type 2f 10.2 FKRP TTN
45 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 FKRP LAMA2 TTN
46 cardiomyopathy, dilated, 1e 10.2 LMNA MEF2C TTN
47 cardiomyopathy, dilated, 1d 10.2 DAG1 LAMA2
48 muscle disorders 10.1 COL6A1 COL6A2
49 bethlem myopathy 1 10.0 COL6A1 COL6A2 LMNA
50 muscular dystrophy-dystroglycanopathy , type a, 1 10.0 FKRP FKTN POMT1

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



Diseases related to Muscular Dystrophy, Congenital, Lmna-Related

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Lmna-Related

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Neck:
neck muscle weakness
floppy neck
loss of head control

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
increased serum creatine kinase

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Limbs:
elbow laxity

Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
generalized amyotrophy
hypotonia, severe
muscle weakness, severe, proximal and distal
axial weakness
head drop due to neck muscle weakness
more
Skeletal:
joint contractures

Skeletal Spine:
rigid spine
stiff spine

Cardiovascular Heart:
conduction abnormalities (less common)

Skeletal Feet:
talipes foot deformities


Clinical features from OMIM:

613205

Human phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
2 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
3 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
4 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
7 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
8 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
9 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
10 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
11 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
12 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
13 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
14 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
15 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
16 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
17 decreased fetal movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0001558
18 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
19 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
20 poor head control 59 32 hallmark (90%) Very frequent (99-80%) HP:0002421
21 axial muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003327
22 failure to thrive 32 HP:0001508
23 respiratory insufficiency due to muscle weakness 32 HP:0002747
24 elevated serum creatine phosphokinase 32 HP:0003236
25 death in infancy 59 Occasional (29-5%)
26 motor delay 32 HP:0001270
27 congenital muscular dystrophy 32 HP:0003741
28 neck muscle weakness 32 HP:0000467
29 generalized amyotrophy 32 HP:0003700
30 severe muscular hypotonia 32 HP:0006829

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 LAMA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.5 MEF2C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 POMGNT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 LAMA2 MEF2C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.5 POMGNT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.5 LAMA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 POMGNT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.5 LAMA2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.5 POMGNT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.5 POMGNT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.5 LAMA2 MEF2C POMGNT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.5 POMGNT1

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 COL6A2 DAG1 EMD ERBIN FKRP FKTN
2 cardiovascular system MP:0005385 9.92 DAG1 EMD FKRP LMNA MEF2C POMGNT1
3 cellular MP:0005384 9.91 FKTN LAMA2 LMNA MEF2C POMGNT1 TTN
4 craniofacial MP:0005382 9.63 FKRP LAMA2 LMNA MEF2C POMGNT1 TTN
5 growth/size/body region MP:0005378 9.61 COL6A2 DAG1 FKRP FKTN LAMA2 LMNA
6 muscle MP:0005369 9.36 COL6A1 DAG1 EMD FKRP FKTN LAMA2

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Lmna-Related

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 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) Completed NCT01805024 Phase 1 Omigapil
3 Flu Vaccine Study in Neuromuscular Patients 2011 Unknown status NCT01422200 Not Applicable
4 A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy Completed NCT01836627 Not Applicable
5 Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy Completed NCT02153970
6 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
7 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
8 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
9 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
10 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

Search NIH Clinical Center for Muscular Dystrophy, Congenital, Lmna-Related

Genetic Tests for Muscular Dystrophy, Congenital, Lmna-Related

Genetic tests related to Muscular Dystrophy, Congenital, Lmna-Related:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy, Lmna-Related 29 LMNA
2 Congenital Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy, Congenital, Lmna-Related

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Lmna-Related:

41
Brain, Skeletal Muscle, Eye, Skin, Testes, Heart, Lung

Publications for Muscular Dystrophy, Congenital, Lmna-Related

Articles related to Muscular Dystrophy, Congenital, Lmna-Related:

(show top 50) (show all 600)
# Title Authors Year
1
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ( 29555514 )
2018
2
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. ( 28804634 )
2017
3
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. ( 28043812 )
2017
4
[Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients]. ( 28173645 )
2017
5
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. ( 28190456 )
2017
6
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
7
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. ( 28629604 )
2017
8
Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment. ( 27915985 )
2017
9
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
10
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. ( 28688748 )
2017
11
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-SjAPgren Syndrome and Dystroglycanopathy. ( 28190459 )
2017
12
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ( 26104111 )
2016
13
Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients. ( 28078877 )
2016
14
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. ( 27123443 )
2016
15
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. ( 27375477 )
2016
16
Orthognathic Surgery in Patients With Congenital Myopathies and Congenital Muscular Dystrophies: Case Series and Review of the Literature. ( 26292175 )
2016
17
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. ( 26782016 )
2016
18
[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene]. ( 26977629 )
2016
19
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. ( 27169979 )
2016
20
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular &amp;amp; Electrodiagnostic Medicine. ( 25825463 )
2015
21
LAMA2-related congenital muscular dystrophy complicated by West syndrome. ( 25500573 )
2015
22
Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy. ( 26521841 )
2015
23
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. ( 25821721 )
2015
24
Prevalence of congenital muscular dystrophy in Italy: a population study. ( 25653289 )
2015
25
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. ( 26347253 )
2015
26
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. ( 26067811 )
2015
27
Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy. ( 25544356 )
2015
28
Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders. ( 25900129 )
2015
29
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. ( 25814170 )
2015
30
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). ( 24938411 )
2014
31
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. ( 25124546 )
2014
32
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. ( 25198651 )
2014
33
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. ( 24009313 )
2014
34
Analysing regenerative potential in zebrafish models of congenital muscular dystrophy. ( 25449259 )
2014
35
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. ( 24780531 )
2014
36
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. ( 25182138 )
2014
37
Genotype/phenotype analysis in Chinese laminin-I+2 deficient congenital muscular dystrophy patients. ( 24611677 )
2014
38
Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. ( 24684859 )
2014
39
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. ( 24852368 )
2014
40
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
41
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. ( 24225367 )
2014
42
The value of respiratory muscle testing in a child with congenital muscular dystrophy. ( 25473580 )
2014
43
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
44
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
45
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
46
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. ( 24530477 )
2014
47
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. ( 24604798 )
2014
48
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations. ( 24556424 )
2014
49
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. ( 24855628 )
2014
50
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. ( 24959844 )
2014

Variations for Muscular Dystrophy, Congenital, Lmna-Related

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

75
# 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, Lmna-Related:

6
(show top 50) (show all 96)
# 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.428C> T (p.Ser143Phe) single nucleotide variant Pathogenic rs58912633 GRCh38 Chromosome 1, 156130688: 156130688
3 LMNA NM_170707.3(LMNA): c.1139T> C (p.Leu380Ser) single nucleotide variant Pathogenic rs121912495 GRCh37 Chromosome 1, 156105894: 156105894
4 LMNA NM_170707.3(LMNA): c.1139T> C (p.Leu380Ser) single nucleotide variant Pathogenic rs121912495 GRCh38 Chromosome 1, 156136103: 156136103
5 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
6 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh38 Chromosome 1, 156134910: 156134910
7 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
8 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
9 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
10 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
13 LMNA NM_170707.3(LMNA): c.1381-2A> G single nucleotide variant Likely pathogenic rs267607600 GRCh37 Chromosome 1, 156106710: 156106710
14 LMNA NM_170707.3(LMNA): c.1381-2A> G single nucleotide variant Likely pathogenic rs267607600 GRCh38 Chromosome 1, 156136919: 156136919
15 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
16 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh38 Chromosome 1, 156115012: 156115014
17 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh37 Chromosome 1, 156108511: 156108511
18 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh38 Chromosome 1, 156138720: 156138720
19 POMT1 NM_007171.3(POMT1): c.1569_1574dupGCGGGA (p.Glu527_Leu528insArgGlu) duplication Uncertain significance rs727502853 GRCh38 Chromosome 9, 131519405: 131519410
20 POMT1 NM_007171.3(POMT1): c.1569_1574dupGCGGGA (p.Glu527_Leu528insArgGlu) duplication Uncertain significance rs727502853 GRCh37 Chromosome 9, 134394792: 134394797
21 POMT2 NM_013382.5(POMT2): c.-47_-44delGACA deletion Conflicting interpretations of pathogenicity rs368351148 GRCh38 Chromosome 14, 77320725: 77320728
22 POMT2 NM_013382.5(POMT2): c.-47_-44delGACA deletion Conflicting interpretations of pathogenicity rs368351148 GRCh37 Chromosome 14, 77787068: 77787071
23 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh37 Chromosome 2, 152346522: 152346522
24 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh38 Chromosome 2, 151490008: 151490008
25 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
26 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
27 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh37 Chromosome 1, 156104767: 156104767
28 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh38 Chromosome 1, 156134976: 156134976
29 LMNA NM_170707.3(LMNA): c.91_93delGAG (p.Glu31del) deletion Likely pathogenic rs864309525 GRCh37 Chromosome 1, 156084800: 156084802
30 LMNA NM_170707.3(LMNA): c.91_93delGAG (p.Glu31del) deletion Likely pathogenic rs864309525 GRCh38 Chromosome 1, 156115009: 156115011
31 TTN NM_001267550.2(TTN): c.107867delT (p.Leu35956Argfs) deletion no interpretation for the single variant rs878854372 GRCh38 Chromosome 2, 178527121: 178527121
32 TTN NM_001267550.2(TTN): c.107867delT (p.Leu35956Argfs) deletion no interpretation for the single variant rs878854372 GRCh37 Chromosome 2, 179391848: 179391848
33 TTN NM_001267550.2(TTN): c.106531+2T> A single nucleotide variant no interpretation for the single variant rs878854373 GRCh37 Chromosome 2, 179394685: 179394685
34 TTN NM_001267550.2(TTN): c.106531+2T> A single nucleotide variant no interpretation for the single variant rs878854373 GRCh38 Chromosome 2, 178529958: 178529958
35 TTN NM_001267550.2(TTN): c.67349-2A> C single nucleotide variant no interpretation for the single variant rs753948675 GRCh37 Chromosome 2, 179444577: 179444577
36 TTN NM_001267550.2(TTN): c.67349-2A> C single nucleotide variant no interpretation for the single variant rs753948675 GRCh38 Chromosome 2, 178579850: 178579850
37 TTN NM_001267550.2(TTN): c.42315_42318delGAAA (p.Lys14105Asnfs) deletion no interpretation for the single variant rs878854371 GRCh38 Chromosome 2, 178634463: 178634466
38 TTN NM_001267550.2(TTN): c.42315_42318delGAAA (p.Lys14105Asnfs) deletion no interpretation for the single variant rs878854371 GRCh37 Chromosome 2, 179499190: 179499193
39 TTN NM_001267550.2(TTN): c.42151+1G> C single nucleotide variant no interpretation for the single variant rs878854369 GRCh37 Chromosome 2, 179499449: 179499449
40 TTN NM_001267550.2(TTN): c.42151+1G> C single nucleotide variant no interpretation for the single variant rs878854369 GRCh38 Chromosome 2, 178634722: 178634722
41 TTN NM_001267550.2(TTN): c.39547+3A> G single nucleotide variant no interpretation for the single variant rs878854370 GRCh37 Chromosome 2, 179516177: 179516177
42 TTN NM_001267550.2(TTN): c.39547+3A> G single nucleotide variant no interpretation for the single variant rs878854370 GRCh38 Chromosome 2, 178651450: 178651450
43 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh37 Chromosome 2, 179400322: 179400322
44 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh38 Chromosome 2, 178535595: 178535596
45 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
46 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh38 Chromosome 7, 30019111: 30019111
47 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh37 Chromosome 1, 156084572: 156084572
48 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh38 Chromosome 1, 156114781: 156114781
49 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh37 Chromosome 1, 156084648: 156084648
50 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh38 Chromosome 1, 156114857: 156114857

Expression for Muscular Dystrophy, Congenital, Lmna-Related

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

Pathways for Muscular Dystrophy, Congenital, Lmna-Related

Pathways related to Muscular Dystrophy, Congenital, Lmna-Related according to KEGG:

37
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514
2 Focal adhesion hsa04510
3 Regulation of actin cytoskeleton hsa04810

GO Terms for Muscular Dystrophy, Congenital, Lmna-Related

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.56 COL6A1 COL6A2 DAG1 FKBP14
2 muscle myosin complex GO:0005859 9.37 MYH2 TTN
3 basement membrane GO:0005604 9.33 DAG1 ERBIN LAMA2
4 dystrophin-associated glycoprotein complex GO:0016010 9.32 DAG1 FKRP
5 extracellular matrix GO:0031012 9.26 COL6A1 COL6A2 DAG1 LAMA2
6 sarcolemma GO:0042383 9.02 COL6A1 COL6A2 DAG1 FKRP LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 EMD MYH2 TTN
2 protein glycosylation GO:0006486 9.56 FKRP FKTN POMGNT1 POMT1
3 protein O-linked glycosylation GO:0006493 9.5 DAG1 POMGNT1 POMT1
4 muscle organ development GO:0007517 9.46 EMD FKTN LAMA2 MEF2C
5 protein heterotrimerization GO:0070208 9.43 COL6A1 COL6A2
6 mitotic nuclear envelope reassembly GO:0007084 9.4 EMD LMNA
7 Schwann cell differentiation GO:0014037 9.37 DAG1 LAMA2
8 extracellular matrix organization GO:0030198 9.35 COL6A1 COL6A2 DAG1 LAMA2 POMT1
9 protein O-linked mannosylation GO:0035269 8.8 FKRP FKTN POMT1

Sources for Muscular Dystrophy, Congenital, Lmna-Related

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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