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EDMD2
MCID: EMR018
MIFTS: 54

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (EDMD2)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 56 12 73 29 6
Edmd2 56 12 58 73
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant 56 12 54
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 58 73 71
Scapuloilioperoneal Atrophy with Cardiopathy 56 12 73
Hauptmann-Thannhauser Muscular Dystrophy 56 12 73
Emd2 56 12 73
Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant 56 12
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 12 15
Cardiomyopathy, Dilated, with Quadriceps Myopathy 56 73
Lgmd1b 73 54
Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant 73
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly; Lgmd1b, Formerly 56
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 12
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly 56
Muscular Dystrophy, Proximal, Type 1b, Formerly 56
Muscular Dystrophy, Limb-Girdle, Type 1b 73
Muscular Dystrophy, Proximal, Type 1b 73
Limb-Girdle Muscular Dystrophy 1b 73
Lgmd1b, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
onset of muscle weakness in early childhood, usually before age 10 years
onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement
high frequency of de novo mutations
some patients may have isolated cardiac involvement
limb-girdle muscular dystrophy 1b (lgmd1b, ) is an allelic disorder with an overlapping phenotype
see also x-linked edmd


HPO:

31
emery-dreifuss muscular dystrophy 2, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

About this section
OMIM : 56 EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989). For a discussion of genetic heterogeneity of EDMD, see 310300. (181350)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant, also known as edmd2, is related to emery-dreifuss muscular dystrophy 4, autosomal dominant and emery-dreifuss muscular dystrophy 7, autosomal dominant. An important gene associated with Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include skeletal muscle and heart, and related phenotypes are joint stiffness and elevated serum creatine kinase

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of LMNA on chromosome 1q22.

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 2, autosomal dominant: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

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Related Diseases for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Diseases related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 4, autosomal dominant 33.8 TMEM43 SYNE2 SYNE1 LMNA EMD
2 emery-dreifuss muscular dystrophy 7, autosomal dominant 33.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1
3 emery-dreifuss muscular dystrophy 5, autosomal dominant 33.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
4 limb-girdle muscular dystrophy 32.8 LMNA FKRP EMD DYSF CAV3
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.4 ZMPSTE24 LMNA
6 familial partial lipodystrophy 31.3 LMNA EMD BANF1
7 autosomal dominant limb-girdle muscular dystrophy 31.2 LMNA EMD DYSF CAV3
8 muscular dystrophy, becker type 31.0 FKRP DYSF CAV3
9 atrial standstill 1 30.9 LMNA FKRP EMD CAV3
10 charcot-marie-tooth disease 30.8 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
11 neuromuscular disease 30.6 SUN2 LMNB2 LMNB1 LMNA FKRP EMD
12 myopathy 30.5 TMEM43 SYNE2 SYNE1 SUN2 LMNA FKRP
13 dilated cardiomyopathy 30.4 TMEM43 SYNE2 SYNE1 SUN2 LMNA LBR
14 emery-dreifuss muscular dystrophy 29.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
15 muscular dystrophy 29.2 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
16 muscular dystrophy, congenital, lmna-related 28.8 ZMPSTE24 TMEM43 SYNE2 SYNE1 SUN2 SUN1
17 limb-girdle muscular dystrophy type 1b 12.2
18 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.6 TMEM43 LMNA
19 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 TMEM43 LMNA
20 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.6 TMEM43 LMNA
21 mandibuloacral dysplasia with type a lipodystrophy 10.6 ZMPSTE24 LMNA
22 atrioventricular block 10.5
23 congestive heart failure 10.5
24 acroosteolysis 10.5 ZMPSTE24 LMNA
25 emerinopathy 10.5 SUN2 LMNA EMD
26 first-degree atrioventricular block 10.5 LMNA EMD
27 nonencapsulated sclerosing carcinoma 10.5 LMNB2 LMNB1 LMNA
28 acquired generalized lipodystrophy 10.5 ZMPSTE24 LMNA
29 progeroid syndrome 10.5 LMNA BANF1
30 intrinsic cardiomyopathy 10.5 TMEM43 LMNA CAV3
31 autosomal recessive limb-girdle muscular dystrophy type 2x 10.5 DYSF CAV3
32 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4 LMNA DYSF CAV3
33 x-linked emery-dreifuss muscular dystrophy 10.4 SYNE2 SYNE1 LMNA EMD
34 lipodystrophy, familial partial, type 2 10.4
35 second-degree atrioventricular block 10.4
36 pre-eclampsia 10.4
37 hemiplegia 10.4
38 hemolytic anemia 10.4
39 muscular atrophy 10.4
40 arrhythmogenic right ventricular dysplasia, familial, 5 10.4 TMEM43 EMD
41 melorheostosis 10.4 LEXM LEMD3 EMD
42 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 FKRP DYSF
43 congenital fiber-type disproportion 10.4 LMNA EMD DYSF
44 muscular dystrophy, limb-girdle, autosomal recessive 8 10.4 FKRP DYSF
45 autosomal recessive limb-girdle muscular dystrophy 10.4 FKRP DYSF CAV3
46 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.4 ZMPSTE24 LMNA
47 autosomal recessive limb-girdle muscular dystrophy type 2h 10.4 FKRP DYSF
48 catecholaminergic polymorphic ventricular tachycardia 10.4 TMEM43 LMNA CAV3
49 myofibrillar myopathy 10.4 LMNA DYSF CAV3
50 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 FKRP DYSF CAV3

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
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Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
3 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
4 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
5 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
6 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
7 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
8 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
9 achilles tendon contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001771
10 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
11 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
12 increased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003141
13 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
14 back pain 58 31 frequent (33%) Frequent (79-30%) HP:0003418
15 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
16 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
17 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
18 decreased cervical spine flexion due to contractures of posterior cervical muscles 58 31 frequent (33%) Frequent (79-30%) HP:0004631
19 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
20 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
21 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
22 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
23 type 1 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011807
24 absent muscle fiber emerin 58 31 frequent (33%) Frequent (79-30%) HP:0030117
25 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
26 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
27 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
28 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
29 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
30 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
33 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
34 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
35 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
36 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
37 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
38 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
39 vocal cord paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0001605
40 sudden cardiac death 58 31 very rare (1%) Very rare (<4-1%) HP:0001645
41 ventricular escape rhythm 58 31 very rare (1%) Very rare (<4-1%) HP:0005155
42 intellectual disability 58 Excluded (0%)
43 myopathy 58 Very frequent (99-80%)
44 gait disturbance 58 Frequent (79-30%)
45 distal lower limb amyotrophy 31 HP:0008944
46 limb-girdle muscle weakness 31 HP:0003325
47 peroneal muscle atrophy 31 HP:0009049
48 peroneal muscle weakness 31 HP:0011727
49 mildly elevated creatine kinase 31 HP:0008180
50 restricted neck movement due to contractures 31 HP:0005997

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
dilated cardiomyopathy
cardiac conduction defects
cardiac arrhythmias
increased risk of sudden cardiac death

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Skeletal Limbs:
elbow contractures

Muscle Soft Tissue:
humeroperoneal weakness and atrophy
distal lower limb muscle weakness and atrophy
limb-girdle muscle weakness, proximal, upper greater than lower
pelvic muscle involvement occurs later

Skeletal Spine:
spinal rigidity
decreased cervical spine flexion due to contractures of posterior cervical muscles

Head And Neck Neck:
restricted neck movement due to contractures

Skeletal Feet:
achilles tendon contractures

Laboratory Abnormalities:
moderately increased serum creatine kinase

Clinical features from OMIM:

181350

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CAV3 EMD FKRP LBR LEMD3 LEXM
2 cardiovascular system MP:0005385 10.06 ANKRD2 CAV3 EMD FKRP LEMD3 LMNA
3 homeostasis/metabolism MP:0005376 9.93 CAV3 DYSF EMD FKRP LBR LMNA
4 mortality/aging MP:0010768 9.8 ANKRD2 FKRP LBR LEMD3 LEXM LMNA
5 muscle MP:0005369 9.44 ANKRD2 CAV3 DYSF EMD FKRP LMNA
Sources

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies Unknown status NCT02601066

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Genetic Tests for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Genetic tests related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 29 LMNA
Sources

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

40
Skeletal Muscle, Heart
Sources

Publications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Articles related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

(show top 50) (show all 81)
# Title Authors PMID Year
1
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. 54 6 56
15668447 2005
2
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 6 56 54
10814726 2000
3
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 54 56 6
10080180 1999
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6 56
30055862 2018
5
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 56 6
19084400 2009
6
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 56 6
17136397 2007
7
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. 6 56
15148145 2004
8
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 56 6
12673789 2003
9
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 6 56
9106535 1997
10
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 6 56
8619549 1996
11
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
12
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 6
18551513 2008
13
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 56
17761684 2007
14
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 56
17377071 2007
15
Cardiac involvement in Emery-Dreifuss muscular dystrophy. 56
15691357 2005
16
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
17
LMNA mutations in atypical Werner's syndrome. 6
12927431 2003
18
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 6
12920062 2003
19
A progeroid syndrome in mice is caused by defects in A-type lamins. 6
12748643 2003
20
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 6
12628721 2003
21
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 6
12196663 2002
22
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 6
11503164 2001
23
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 56
10939567 2000
24
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 6
10662742 2000
25
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. 56
9949197 1999
26
Emery-Dreifuss syndrome in three generations of females, including identical twins. 56
2289317 1990
27
Emery-Dreifuss syndrome. 56
2685312 1989
28
Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease. 56
3203701 1988
29
Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser). 56
3770746 1986
30
Autosomal dominant humeroperoneal myopathy. 56
3729752 1986
31
Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected. 56
3708775 1986
32
Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. 56
4022362 1985
33
An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. 56
6890649 1982
34
Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. 56
7334411 1981
35
Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy. A study of two families. 56
1218374 1975
36
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. 54 61
16481476 2006
37
Mutations in the LMNA gene encoding lamin A/C. 54 61
11102973 2000
38
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy. 61
30326651 2018
39
Inflammatory myopathy in the context of an unusual overlapping laminopathy. 61
29791652 2018
40
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies. 61
29895224 2018
41
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. 61
28531892 2017
42
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. 61
27179216 2016
43
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. 61
26443318 2015
44
LMNA-associated myopathies: the Italian experience in a large cohort of patients. 61
25274841 2014
45
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. 61
24839233 2014
46
[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. 61
24990833 2014
47
An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation. 61
23349612 2012
48
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 54
19882644 2010
49
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 54
20130076 2010
50
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 54
19446900 2009
Sources

Variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

6 (show top 50) (show all 74) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)SNV Pathogenic 14481 rs57520892 1:156106995-156106995 1:156137204-156137204
2 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)SNV Pathogenic 14482 rs60934003 1:156107004-156107004 1:156137213-156137213
3 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
4 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs)deletion Pathogenic 14491 rs56771886 1:156105714-156105714 1:156135923-156135923
5 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr)SNV Pathogenic 14492 rs28928901 1:156104620-156104620 1:156134829-156134829
6 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His)SNV Pathogenic 14495 rs61672878 1:156105885-156105885 1:156136094-156136094
7 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)SNV Pathogenic 14477 rs61046466 1:156084725-156084725 1:156114934-156114934
8 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
9 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)SNV Pathogenic 14514 rs56699480 1:156106808-156106808 1:156137017-156137017
10 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)SNV Pathogenic 41234 rs199474724 1:156104630-156104630 1:156134839-156134839
11 LMNA NM_170707.4(LMNA):c.1608+5G>CSNV Pathogenic 66854 rs267607539 1:156107028-156107028 1:156137237-156137237
12 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del)short repeat Pathogenic 66918 rs267607540 1:156104300-156104302 1:156134509-156134511
13 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
14 LMNA NM_170707.4(LMNA):c.810+1G>CSNV Pathogenic 216958 rs267607632 1:156104767-156104767 1:156134976-156134976
15 LMNA NM_170707.4(LMNA):c.513+45T>GSNV Pathogenic 236201 rs878853220 1:156100609-156100609 1:156130818-156130818
16 LMNA NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)SNV Pathogenic/Likely pathogenic 66925 rs57207746 1:156104651-156104651 1:156134860-156134860
17 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)SNV Pathogenic/Likely pathogenic 66849 rs57629361 1:156106998-156106998 1:156137207-156137207
18 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
19 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)SNV Pathogenic/Likely pathogenic 14524 rs121912496 1:156104701-156104701 1:156134910-156134910
20 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
21 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)SNV Pathogenic/Likely pathogenic 14478 rs58932704 1:156106204-156106204 1:156136413-156136413
22 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)SNV Likely pathogenic 14511 rs58048078 1:156104733-156104733 1:156134942-156134942
23 LMNA NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)SNV Likely pathogenic 488542 rs1553265999 1:156106716-156106716 1:156136925-156136925
24 LMNA NM_170707.4(LMNA):c.936+2T>CSNV Likely pathogenic 208496 rs797045011 1:156105105-156105105 1:156135314-156135314
25 LMNA NM_170707.4(LMNA):c.514-11C>TSNV Conflicting interpretations of pathogenicity 292836 rs886045365 1:156104183-156104183 1:156134392-156134392
26 LMNA NM_170707.4(LMNA):c.1698+57G>ASNV Conflicting interpretations of pathogenicity 292840 rs557334569 1:156107591-156107591 1:156137800-156137800
27 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=)SNV Conflicting interpretations of pathogenicity 292834 rs886045363 1:156085003-156085003 1:156115212-156115212
28 LMNA NM_170707.4(LMNA):c.1488G>A (p.Thr496=)SNV Conflicting interpretations of pathogenicity 292839 rs375516745 1:156106819-156106819 1:156137028-156137028
29 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
30 LMNA NM_170707.4(LMNA):c.811-13T>ASNV Conflicting interpretations of pathogenicity 48086 rs80356809 1:156104965-156104965 1:156135174-156135174
31 LMNA NM_170707.4(LMNA):c.937-8C>ASNV Conflicting interpretations of pathogenicity 222694 rs751707982 1:156105684-156105684 1:156135893-156135893
32 LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=)SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175
33 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)SNV Conflicting interpretations of pathogenicity 200934 rs60864230 1:156100449-156100449 1:156130658-156130658
34 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=)SNV Conflicting interpretations of pathogenicity 200936 rs150645079 1:156100522-156100522 1:156130731-156130731
35 LMNA NM_170707.4(LMNA):c.1488+14C>TSNV Conflicting interpretations of pathogenicity 178061 rs377700689 1:156106833-156106833 1:156137042-156137042
36 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His)SNV Conflicting interpretations of pathogenicity 163878 rs142191737 1:156107470-156107470 1:156137679-156137679
37 LMNA NM_170707.4(LMNA):c.1324G>A (p.Val442Met)SNV Conflicting interpretations of pathogenicity 519022 rs368542816 1:156106171-156106171 1:156136380-156136380
38 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)SNV Conflicting interpretations of pathogenicity 570103 rs267607598 1:156106205-156106205 1:156136414-156136414
39 LMNA NM_170707.4(LMNA):c.1227A>G (p.Thr409=)SNV Conflicting interpretations of pathogenicity 698186 1:156106074-156106074 1:156136283-156136283
40 LMNA NC_000001.11:g.156114696C>TSNV Conflicting interpretations of pathogenicity 874656 1:156084487-156084487 1:156114696-156114696
41 LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=)SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190
42 LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=)SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617
43 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)SNV Conflicting interpretations of pathogenicity 48063 rs397517901 1:156085059-156085059 1:156115268-156115268
44 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met)SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
45 LMNA NM_170707.4(LMNA):c.-44T>ASNV Uncertain significance 873801 1:156084666-156084666 1:156114875-156114875
46 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)SNV Uncertain significance 874034 1:156104752-156104752 1:156134961-156134961
47 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)SNV Uncertain significance 876083 1:156106185-156106185 1:156136394-156136394
48 LMNA NM_170707.4(LMNA):c.1698+83G>ASNV Uncertain significance 875382 1:156107617-156107617 1:156137826-156137826
49 LMNA NM_170707.4(LMNA):c.356+12C>ASNV Uncertain significance 875747 1:156085077-156085077 1:156115286-156115286
50 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val)SNV Uncertain significance 586129 rs1212920276 1:156105708-156105708 1:156135917-156135917

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant:

73 (show top 50) (show all 61)
# Symbol AA change Variation ID SNP ID
1 LMNA p.Tyr45Cys VAR_009971 rs58436778
2 LMNA p.Arg50Pro VAR_009972 rs60695352
3 LMNA p.Ile63Ser VAR_009974 rs57793737
4 LMNA p.His222Tyr VAR_009979 rs28928901
5 LMNA p.Arg249Gln VAR_009980 rs59332535
6 LMNA p.Gln294Pro VAR_009982 rs61616775
7 LMNA p.Arg336Gln VAR_009983 rs58105277
8 LMNA p.Arg343Gln VAR_009984 rs61177390
9 LMNA p.Glu358Lys VAR_009985 rs60458016
10 LMNA p.Met371Lys VAR_009986 rs59653062
11 LMNA p.Arg386Lys VAR_009987 rs267607545
12 LMNA p.Arg453Trp VAR_009988 rs58932704
13 LMNA p.Ile469Thr VAR_009990 rs57394692
14 LMNA p.Arg527Pro VAR_009995 rs57520892
15 LMNA p.Thr528Lys VAR_009996 rs57629361
16 LMNA p.Leu530Pro VAR_009997 rs60934003
17 LMNA p.Arg377His VAR_016205 rs61672878
18 LMNA p.Arg133Pro VAR_017657 rs60864230
19 LMNA p.Arg25Gly VAR_039746 rs58327533
20 LMNA p.Arg25Pro VAR_039747 rs61578124
21 LMNA p.Glu33Gly VAR_039751 rs267607614
22 LMNA p.Leu35Val VAR_039752 rs56694480
23 LMNA p.Ala43Thr VAR_039753 rs60446065
24 LMNA p.Arg50Ser VAR_039754 rs59931416
25 LMNA p.Ile63Asn VAR_039756 rs57793737
26 LMNA p.Glu65Gly VAR_039757
27 LMNA p.Leu140Pro VAR_039760 rs60652225
28 LMNA p.Thr150Pro VAR_039762 rs58917027
29 LMNA p.Arg190Gln VAR_039763 rs267607571
30 LMNA p.His222Pro VAR_039769 rs58034145
31 LMNA p.Gly232Glu VAR_039771 rs57207746
32 LMNA p.Leu248Pro VAR_039772 rs58850446
33 LMNA p.Tyr267Cys VAR_039774 rs57048196
34 LMNA p.Arg377Leu VAR_039777 rs61672878
35 LMNA p.Asp446Val VAR_039780 rs58541611
36 LMNA p.Asn456Ile VAR_039781 rs60992550
37 LMNA p.Asn456Lys VAR_039782 rs61235244
38 LMNA p.Tyr481His VAR_039783 rs57747780
39 LMNA p.Trp520Ser VAR_039784 rs58362413
40 LMNA p.Thr528Arg VAR_039785 rs57629361
41 LMNA p.Arg541His VAR_039787 rs61444459
42 LMNA p.Arg541Ser VAR_039788 rs56984562
43 LMNA p.Arg624His VAR_039791 rs13768
44 LMNA p.Arg644Cys VAR_039792 rs142000963
45 LMNA p.Asn39Ser VAR_063588 rs57983345
46 LMNA p.Arg249Trp VAR_063589 rs121912496
47 LMNA p.Arg189Pro VAR_064962 rs267607643
48 LMNA p.Phe206Leu VAR_064964 rs267607629
49 LMNA p.Ser268Pro VAR_064965 rs267607630
50 LMNA p.Leu271Pro VAR_064966 rs267607641

Sources

Expression for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant.
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Pathways for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Pathways related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 65
Show member pathways
 12.97 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
2
Mitotic Metaphase and Anaphase 65
Show member pathways
 12.49 LMNB1 LMNA LEMD3 EMD BANF1
3
Mitotic Prophase 65
Show member pathways
 12.34 LMNB1 LMNA LEMD3 EMD BANF1
4
Cytoskeletal Signaling 4
12.19 LMNB2 LMNB1 LMNA EMD
5
Meiosis 65
Show member pathways
 11.9 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
6
Apoptosis and survival Caspase cascade 22
Show member pathways
 11.87 LMNB2 LMNB1 LMNA
7
Granzyme Pathway 63
Show member pathways
 11.16 LMNB2 LMNB1 LMNA
8
Initiation of Nuclear Envelope Reformation 65
Show member pathways
 10.54 LMNB1 LMNA LEMD3 EMD BANF1
Sources

GO Terms for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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Cellular components related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
2 nucleus GO:0005634 10.31 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
3 endoplasmic reticulum GO:0005783 10.02 ZMPSTE24 TMEM43 LBR FKRP EMD COL26A1
4 nuclear inner membrane GO:0005637 9.85 ZMPSTE24 TMEM43 TMEM201 SUN2 SUN1 LMNB2
5 integral component of nuclear inner membrane GO:0005639 9.73 TMEM43 TMEM201 SUN2 SUN1 LEMD3 LBR
6 nuclear membrane GO:0031965 9.7 TMEM201 SYNE2 SYNE1 SUN2 SUN1 LMNB2
7 sarcolemma GO:0042383 9.63 FKRP DYSF CAV3
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
9 nuclear outer membrane GO:0005640 9.61 SYNE2 SYNE1 EMD
10 lamin filament GO:0005638 9.54 LMNB2 LMNB1 LMNA
11 nuclear envelope GO:0005635 9.36 ZMPSTE24 SYNE2 SYNE1 SUN2 SUN1 LMNB2

Biological processes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.78 EMD DYSF CAV3 ANKRD2
2 muscle organ development GO:0007517 9.71 EMD CAV3 ANKRD2
3 nucleus organization GO:0006997 9.62 ZMPSTE24 SYNE1 LMNA LEMD3
4 centrosome localization GO:0051642 9.61 SYNE2 SUN2 SUN1
5 nuclear migration GO:0007097 9.58 TMEM201 SYNE2 SUN2
6 plasma membrane organization GO:0007009 9.56 DYSF CAV3
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.55 ZMPSTE24 CAV3
8 mitotic nuclear envelope reassembly GO:0007084 9.54 LMNA EMD BANF1
9 plasma membrane repair GO:0001778 9.52 DYSF CAV3
10 regulation of calcium ion import GO:0090279 9.51 DYSF CAV3
11 T-tubule organization GO:0033292 9.49 DYSF CAV3
12 nuclear migration along microfilament GO:0031022 9.46 SYNE2 SUN2
13 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SYNE1 SUN2 SUN1
14 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SYNE2 SUN2 SUN1
15 cytoskeletal anchoring at nuclear membrane GO:0090286 9.26 SYNE2 SYNE1 SUN2 SUN1
16 nuclear envelope organization GO:0006998 9.02 ZMPSTE24 SUN2 SUN1 LMNA LEMD3

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 ZMPSTE24 TMEM43 SYNE2 SYNE1 SUN2 SUN1
2 lamin binding GO:0005521 9.02 TMEM201 SYNE1 SUN2 SUN1 LBR
3 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
Sources

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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