MDCL
MCID: MSC165
MIFTS: 66

Muscular Dystrophy, Congenital, Lmna-Related (MDCL)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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. 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 161)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 33.7 DAG1 FKTN LAMA2 LMNA
2 muscular dystrophy, congenital, 1b 33.5 DAG1 FKRP FKTN LAMA2
3 walker-warburg syndrome 33.0 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
4 bethlem myopathy 1 32.6 COL6A1 COL6A2 COL6A3 LMNA SELENON
5 rigid spine muscular dystrophy 1 32.2 COL6A2 FKBP14 LAMA2 SELENON TTN
6 cardiomyopathy, dilated, 1a 32.2 DAG1 EMD LAMA2 LMNA
7 congenital muscular dystrophy without intellectual disability 32.0 FKRP FKTN POMT1
8 muscular dystrophy-dystroglycanopathy , type c, 1 32.0 POMT1 POMT2
9 congenital muscular dystrophy with intellectual disability 32.0 FKRP POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type b, 6 31.9 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
11 muscular dystrophy-dystroglycanopathy , type b, 5 31.9 DAG1 FKRP FKTN LAMA2 LMNA POMGNT1
12 congenital muscular dystrophy with cerebellar involvement 31.9 FKRP POMGNT1 POMT1 POMT2
13 collagen vi-related myopathy 31.8 COL6A1 COL6A2 COL6A3
14 muscular dystrophy-dystroglycanopathy , type a, 1 31.7 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
15 ullrich congenital muscular dystrophy 1 31.6 COL6A1 COL6A2 COL6A3 FKBP14 LAMA2 LMNA
16 muscle eye brain disease 31.6 DAG1 FKRP FKTN POMGNT1 POMT1 POMT2
17 muscular dystrophy-dystroglycanopathy 31.5 DAG1 FKRP POMGNT1 POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy , type a, 4 31.3 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
19 lissencephaly 30.4 DAG1 FKRP FKTN
20 limb-girdle muscular dystrophy 30.1 FKRP FKTN LAMA2 LMNA POMGNT1 POMT1
21 muscle disorders 30.1 COL6A1 COL6A2 COL6A3 SELENON
22 neuromuscular disease 30.1 EMD LAMA2 LMNA TTN
23 respiratory failure 30.0 LAMA2 SELENON TTN
24 myopathy 29.8 COL6A1 COL6A2 COL6A3 EMD MYH2 SELENON
25 dilated cardiomyopathy 29.7 DAG1 EMD FKRP FKTN LAMA2 LMNA
26 muscular dystrophy 29.6 COL6A1 COL6A2 COL6A3 DAG1 EMD FKRP
27 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 12.5
28 ullrich congenital muscular dystrophy 2 12.4
29 muscular dystrophy, congenital, davignon-chauveau type 12.4
30 muscular dystrophy, congenital, with cataracts and intellectual disability 12.4
31 muscular dystrophy, congenital, megaconial type 12.3
32 muscular dystrophy, congenital, producing arthrogryposis 12.1
33 muscular dystrophy, congenital, with infantile cataract and hypogonadism 12.1
34 muscular dystrophy, congenital, with rapid progression 12.1
35 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers 12.1
36 muscular dystrophy, congenital, with cerebellar atrophy 12.1
37 congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability 12.1
38 congenital muscular dystrophy with hyperlaxity 12.1
39 craniometaphyseal dysplasia, autosomal dominant 11.9
40 muscular dystrophy-dystroglycanopathy , type a, 2 11.8
41 muscular dystrophy-dystroglycanopathy , type a, 5 11.8
42 muscular dystrophy-dystroglycanopathy , type a, 6 11.8
43 muscular dystrophy-dystroglycanopathy , type a, 7 11.8
44 muscular dystrophy, congenital, merosin-positive 11.5
45 fukuyama type muscular dystrophy 11.3
46 muscular dystrophy-dystroglycanopathy , type a, 3 11.2
47 muscular dystrophy-dystroglycanopathy , type a, 8 11.2
48 muscular dystrophy-dystroglycanopathy , type a, 10 11.2
49 muscular dystrophy-dystroglycanopathy , type a, 11 11.2
50 muscular dystrophy-dystroglycanopathy , type a, 12 11.2

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 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
17 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
18 decreased fetal movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0001558
19 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
20 axial muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003327
21 poor head control 59 32 hallmark (90%) Very frequent (99-80%) HP:0002421
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 severe muscular hypotonia 32 HP:0006829
29 neck muscle weakness 32 HP:0000467
30 generalized amyotrophy 32 HP:0003700

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.12 TTN
2 Decreased viability GR00221-A-4 10.12 TTN
3 Decreased viability GR00240-S-1 10.12 LMNA
4 Decreased viability GR00342-S-1 10.12 TTN
5 Decreased viability GR00342-S-3 10.12 TTN
6 Decreased viability GR00381-A-1 10.12 COL6A2 FKRP LAMA2
7 Decreased viability GR00381-A-3 10.12 COL6A2
8 Decreased viability GR00402-S-2 10.12 COL6A1 COL6A2 COL6A3 DAG1 EMD ERBIN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.03 LAMA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.03 MEF2C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.03 POMGNT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 10.03 LAMA2 MEF2C
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.03 POMGNT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 10.03 LAMA2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.03 POMGNT1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.03 LAMA2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.03 POMGNT1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.03 POMGNT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.03 LAMA2 MEF2C POMGNT1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.03 POMGNT1
21 no effect GR00402-S-1 9.62 COL6A1 COL6A2 COL6A3 DAG1 EMD ERBIN

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 COL6A2 DAG1 EMD ERBIN FKRP FKTN
2 cellular MP:0005384 10.22 COL6A3 DAG1 EMD FKRP FKTN LAMA2
3 growth/size/body region MP:0005378 10.21 COL6A2 COL6A3 DAG1 FKRP FKTN LAMA2
4 cardiovascular system MP:0005385 10.13 DAG1 EMD FKRP LMNA MEF2A MEF2C
5 muscle MP:0005369 10.13 COL6A1 COL6A3 DAG1 EMD FKRP FKTN
6 mortality/aging MP:0010768 10.1 DAG1 FKRP FKTN LAMA2 LMNA MEF2A
7 nervous system MP:0003631 9.9 DAG1 ERBIN FKRP FKTN LAMA2 LMNA
8 normal MP:0002873 9.56 DAG1 FKRP LMNA MEF2A MEF2C MYOD1
9 skeleton MP:0005390 9.23 COL6A3 FKRP LAMA2 LMNA MEF2C MYOD1

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

Search Clinical Trials , 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, Heart, Retina, Bone

Publications for Muscular Dystrophy, Congenital, Lmna-Related

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

(show top 50) (show all 648)
# Title Authors Year
1
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ( 29555514 )
2018
2
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study. ( 30389963 )
2018
3
Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy. ( 30504588 )
2018
4
National registry of patients with Fukuyama congenital muscular dystrophy in Japan. ( 30220444 )
2018
5
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. ( 29894794 )
2018
6
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. ( 30077507 )
2018
7
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. ( 30083363 )
2018
8
COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. ( 29465610 )
2018
9
NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project. ( 29480213 )
2018
10
Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy. ( 29487616 )
2018
11
Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. ( 29499949 )
2018
12
Dexmedetomidine, high-flow nasal oxygen and sugammadex-reversal of rocuronium: overcoming anaesthetic challenges in a parturient with congenital muscular dystrophy presenting for caesarean section. ( 29544721 )
2018
13
Increased polyamines as protective disease modifiers in congenital muscular dystrophy. ( 29566247 )
2018
14
A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy. ( 29689733 )
2018
15
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy ( 29707938 )
2018
16
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. ( 29763467 )
2018
17
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis. ( 28224647 )
2018
18
[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy]. ( 29419866 )
2018
19
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
20
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. ( 28043812 )
2017
21
[Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients]. ( 28173645 )
2017
22
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. ( 28190456 )
2017
23
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
24
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. ( 28629604 )
2017
25
Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment. ( 27915985 )
2017
26
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
27
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. ( 28190459 )
2017
28
Genetic and Clinical Advances of Congenital Muscular Dystrophy. ( 29067961 )
2017
29
Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study. ( 29129153 )
2017
30
Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy. ( 28550268 )
2017
31
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. ( 28680109 )
2017
32
Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. ( 28797072 )
2017
33
Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy. ( 28818390 )
2017
34
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. ( 28125586 )
2017
35
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. ( 28182637 )
2017
36
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. ( 28241031 )
2017
37
Spinal fusion in a patient with Fukuyama congenital muscular dystrophy. ( 28318781 )
2017
38
Spinal correction in patients with Fukuyama congenital muscular dystrophy. ( 28325699 )
2017
39
Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy. ( 28334989 )
2017
40
Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient. ( 28441765 )
2017
41
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy. ( 27818010 )
2017
42
Adherence and barriers to hyperinsufflation in children with congenital muscular dystrophy. ( 27875025 )
2017
43
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. ( 27876398 )
2017
44
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ( 26104111 )
2016
45
Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients. ( 28078877 )
2016
46
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. ( 27375477 )
2016
47
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. ( 26782016 )
2016
48
[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene]. ( 26977629 )
2016
49
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. ( 27169979 )
2016
50
Electrical impedance myography discriminates congenital muscular dystrophy from controls. ( 26179210 )
2016

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 116)
# 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_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
16 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
17 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
18 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
19 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
20 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
21 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
22 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
23 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
24 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
25 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
26 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
27 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
28 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
29 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
30 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
31 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
32 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
33 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
34 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
35 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
36 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh38 Chromosome 1, 156115012: 156115014
37 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh37 Chromosome 19, 39057626: 39057626
38 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh38 Chromosome 19, 38566986: 38566986
39 POMT1 NM_007171.3(POMT1): c.123-5dupT duplication Benign/Likely benign rs148086540 GRCh37 Chromosome 9, 134381496: 134381496
40 POMT1 NM_007171.3(POMT1): c.123-5dupT duplication Benign/Likely benign rs148086540 GRCh38 Chromosome 9, 131506109: 131506109
41 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh37 Chromosome 1, 156108511: 156108511
42 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh38 Chromosome 1, 156138720: 156138720
43 POMT1 NM_007171.3(POMT1): c.1569_1574dupGCGGGA (p.Glu527_Leu528insArgGlu) duplication Uncertain significance rs727502853 GRCh38 Chromosome 9, 131519405: 131519410
44 POMT1 NM_007171.3(POMT1): c.1569_1574dupGCGGGA (p.Glu527_Leu528insArgGlu) duplication Uncertain significance rs727502853 GRCh37 Chromosome 9, 134394792: 134394797
45 POMT2 NM_013382.5(POMT2): c.-47_-44delGACA deletion Conflicting interpretations of pathogenicity rs368351148 GRCh38 Chromosome 14, 77320725: 77320728
46 POMT2 NM_013382.5(POMT2): c.-47_-44delGACA deletion Conflicting interpretations of pathogenicity rs368351148 GRCh37 Chromosome 14, 77787068: 77787071
47 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh37 Chromosome 2, 152346522: 152346522
48 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh38 Chromosome 2, 151490008: 151490008
49 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
50 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175

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

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 COL6A1 COL6A2 COL6A3 LAMA2 MEF2A MEF2C
2
Show member pathways
12.55 COL6A1 COL6A2 COL6A3 DAG1 LAMA2
3
Show member pathways
12.23 DAG1 EMD LAMA2 LMNA
4
Show member pathways
12.02 DAG1 POMGNT1 POMT1 POMT2
5
Show member pathways
11.9 COL6A1 COL6A2 COL6A3 LAMA2 MEF2C MYH2
6 11.86 LMNA MEF2A MEF2C
7
Show member pathways
11.79 DAG1 EMD LAMA2 LMNA TTN
8
Show member pathways
11.53 COL6A1 COL6A2 COL6A3 DAG1 LAMA2
9
Show member pathways
11.42 MEF2A MEF2C MYOD1
10 11.24 COL6A1 COL6A2 COL6A3
11 11.16 MEF2A MEF2C MYOD1
12 11.11 COL6A1 COL6A2 COL6A3
13 10.99 MEF2A MEF2C MYOD1
14 10.9 POMT1 POMT2
15 10.83 DAG1 LAMA2
16 10.65 MEF2A MEF2C
17 10.38 FKRP FKTN POMGNT1 POMT1 POMT2

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 GO:0005783 9.95 EMD FKBP14 FKRP FKTN POMT1 POMT2
2 endoplasmic reticulum lumen GO:0005788 9.55 COL6A1 COL6A2 COL6A3 DAG1 FKBP14
3 basement membrane GO:0005604 9.54 DAG1 ERBIN LAMA2
4 collagen trimer GO:0005581 9.5 COL6A1 COL6A2 COL6A3
5 dystrophin-associated glycoprotein complex GO:0016010 9.43 DAG1 FKRP
6 collagen-containing extracellular matrix GO:0062023 9.35 COL6A1 COL6A2 COL6A3 DAG1 LAMA2
7 collagen type VI trimer GO:0005589 9.26 COL6A1 COL6A3
8 sarcolemma GO:0042383 9.1 COL6A1 COL6A2 COL6A3 DAG1 FKRP LAMA2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.96 COL6A1 COL6A2 COL6A3 ERBIN LAMA2
2 muscle contraction GO:0006936 9.72 EMD MYH2 TTN
3 protein glycosylation GO:0006486 9.72 FKRP FKTN POMGNT1 POMT1 POMT2
4 skeletal muscle cell differentiation GO:0035914 9.63 EMD MEF2C MYOD1
5 extracellular matrix organization GO:0030198 9.63 COL6A1 COL6A2 COL6A3 DAG1 LAMA2 POMT1
6 positive regulation of muscle cell differentiation GO:0051149 9.58 MEF2A MEF2C MYOD1
7 positive regulation of myoblast differentiation GO:0045663 9.57 MEF2C MYOD1
8 protein O-linked glycosylation GO:0006493 9.56 FKTN POMGNT1 POMT1 POMT2
9 mannosylation GO:0097502 9.54 POMT1 POMT2
10 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.54 COL6A1 COL6A2 COL6A3
11 myotube differentiation GO:0014902 9.52 MEF2C MYOD1
12 protein heterotrimerization GO:0070208 9.51 COL6A1 COL6A2
13 Schwann cell differentiation GO:0014037 9.49 DAG1 LAMA2
14 mitotic nuclear envelope reassembly GO:0007084 9.48 EMD LMNA
15 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
16 protein O-linked mannosylation GO:0035269 9.26 FKRP FKTN POMT1 POMT2
17 muscle organ development GO:0007517 9.17 COL6A3 EMD FKTN LAMA2 MEF2A MEF2C

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 MEF2A MEF2C MYOD1
2 dystroglycan binding GO:0002162 9.26 DAG1 FKRP
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT1 POMT2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL6A1 COL6A2 COL6A3

Sources for Muscular Dystrophy, Congenital, Lmna-Related

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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