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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

Name: Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 57 12 72 29 6
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 58 72 29 70
Edmd2 57 12 58 72
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant 57 12 54
Scapuloilioperoneal Atrophy with Cardiopathy 57 12 72
Hauptmann-Thannhauser Muscular Dystrophy 57 12 72
Emd2 57 12 72
Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant 57 12
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 12 15
Cardiomyopathy, Dilated, with Quadriceps Myopathy 57 72
Muscular Dystrophy, Limb-Girdle, Type 1b 72 70
Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant 72
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly; Lgmd1b, Formerly 57
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 12
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly 57
Muscular Dystrophy, Proximal, Type 1b, Formerly 57
Muscular Dystrophy, Proximal, Type 1b 72
Limb-Girdle Muscular Dystrophy 1b 72
Lgmd1b, Formerly 57
Lgmd1b 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant, also known as autosomal dominant emery-dreifuss muscular dystrophy, 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 myotonia

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 : 72 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.

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

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 109)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 4, autosomal dominant 32.9 TMEM43 SYNE2 SYNE1 LMNA EMD
2 emery-dreifuss muscular dystrophy 7, autosomal dominant 32.7 TMEM43 SYNE2 SYNE1 SUN2 SUN1 EMD
3 emery-dreifuss muscular dystrophy 5, autosomal dominant 32.7 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
4 familial partial lipodystrophy 31.0 LMNA EMD BANF1
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.0 ZMPSTE24 LMNA
6 limb-girdle muscular dystrophy 30.9 LMNA DYSF CAPN3
7 charcot-marie-tooth disease 30.8 SUN2 LMNB2 LMNB1 LMNA EMD
8 laminopathy 30.8 ZMPSTE24 SYNE2 SUN2 SUN1 LMNB2 LMNA
9 autosomal dominant limb-girdle muscular dystrophy 30.8 LMNA EMD CAPN3
10 muscular dystrophy, becker type 30.7 MYOD1 DYSF CAPN3
11 dilated cardiomyopathy 30.4 TMEM43 SYNE2 SYNE1 SUN2 LMNA LBR
12 cardiomyopathy, dilated, 1a 30.4 ZMPSTE24 TMEM43 SYNE2 SYNE1 SUN1 LMNB2
13 limb-girdle muscular dystrophy type 1a 30.3 DYSF CAPN3
14 dysferlinopathy 30.3 DYSF CAPN3
15 neuromuscular disease 30.2 SUN2 MYOD1 LMNB2 LMNA EMD DYSF
16 myopathy 30.1 TMEM43 SYNE2 SYNE1 SUN2 MYOD1 LMNA
17 cardiomyopathy, dilated, 1h 29.8 ZMPSTE24 TMEM43 SYNE2 SYNE1 SUN2 SUN1
18 muscular dystrophy, congenital, lmna-related 29.1 ZMPSTE24 TMEM43 SYNE2 SYNE1 SUN2 SUN1
19 muscular dystrophy 28.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 MYOD1
20 emery-dreifuss muscular dystrophy 28.6 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
21 limb-girdle muscular dystrophy type 1b 11.5
22 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 TMEM43 LMNA
23 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 TMEM43 LMNA
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 TMEM43 LMNA
25 mandibuloacral dysplasia with type a lipodystrophy 10.4 ZMPSTE24 LMNA
26 acroosteolysis 10.4 ZMPSTE24 LMNA
27 first-degree atrioventricular block 10.4 LMNA EMD
28 emerinopathy 10.4 SUN2 LMNA EMD
29 nonencapsulated sclerosing carcinoma 10.4 LMNB2 LMNB1 LMNA
30 acquired generalized lipodystrophy 10.4 ZMPSTE24 LMNA
31 arrhythmogenic right ventricular dysplasia, familial, 5 10.4 TMEM43 EMD
32 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.4 ZMPSTE24 SYNE2 LMNA
33 left bundle branch hemiblock 10.4 TMEM43 LMNA
34 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 DYSF CAPN3
35 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 DYSF CAPN3
36 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 DYSF CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 DYSF CAPN3
38 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 DYSF CAPN3
39 atrioventricular block 10.3
40 congestive heart failure 10.3
41 muscular atrophy 10.3
42 x-linked emery-dreifuss muscular dystrophy 10.3 SYNE2 SYNE1 LMNA EMD
43 complete generalized lipodystrophy 10.3 ZMPSTE24 LMNA
44 congenital generalized lipodystrophy 10.3 ZMPSTE24 LMNB2 LMNA
45 muscular dystrophy, limb-girdle, autosomal recessive 4 10.3 DYSF CAPN3
46 lipodystrophy, familial partial, type 2 10.3
47 second-degree atrioventricular block 10.3
48 pre-eclampsia 10.3
49 hemiplegia 10.3
50 hemolytic anemia 10.3

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

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

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

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
3 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
29 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
30 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
31 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
32 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
33 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
34 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
35 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
36 hypotonia 31 occasional (7.5%) HP:0001252
37 sudden cardiac death 58 31 very rare (1%) Very rare (<4-1%) HP:0001645
38 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
39 vocal cord paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0001605
40 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
41 ventricular escape rhythm 58 31 very rare (1%) Very rare (<4-1%) HP:0005155
42 intellectual disability 58 Excluded (0%)
43 gait disturbance 58 Frequent (79-30%)
44 muscular hypotonia 58 Occasional (29-5%)
45 myopathy 58 Very frequent (99-80%)
46 mildly elevated creatine kinase 31 HP:0008180
47 distal lower limb amyotrophy 31 HP:0008944
48 limb-girdle muscle weakness 31 HP:0003325
49 peroneal muscle atrophy 31 HP:0009049
50 peroneal muscle weakness 31 HP:0011727

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ANKRD2 CAPN3 EMD LEMD3 LMNA MLIP
2 homeostasis/metabolism MP:0005376 10.13 CAPN3 DYSF EMD LBR LMNA LMNB1
3 mortality/aging MP:0010768 10.13 ANKRD2 DOK7 LBR LEMD3 LMNA LMNB1
4 cellular MP:0005384 10.11 EMD LBR LEMD3 LMNA LMNB1 LMNB2
5 muscle MP:0005369 10.03 ANKRD2 CAPN3 DOK7 DYSF EMD LMNA
6 no phenotypic analysis MP:0003012 9.5 CAPN3 DYSF LBR MLIP MYOD1 SUN1
7 respiratory system MP:0005388 9.23 DOK7 LBR LMNA LMNB1 LMNB2 MYOD1

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

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

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

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
2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 29

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

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

40
Skeletal Muscle, Heart

Publications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

(show top 50) (show all 93)
# Title Authors PMID Year
1
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 54 6 57
10080180 1999
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57 6
30055862 2018
3
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 57 6
19084400 2009
4
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 6 57
17377071 2007
5
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 57 6
17136397 2007
6
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. 6 57
15668447 2005
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. 57 6
15148145 2004
8
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 57 6
12673789 2003
9
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 57 6
10939567 2000
10
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 57 6
10814726 2000
11
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 6 57
9106535 1997
12
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 57 6
8619549 1996
13
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. 61 6
12032588 2002
14
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 54 6
11792809 2001
15
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 6
27717888 2016
16
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
17
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 6
22883396 2013
18
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
19
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 6
23427149 2013
20
Inflammatory changes in infantile-onset LMNA-associated myopathy. 6
21632249 2011
21
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 6
20848652 2011
22
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 6
21173262 2011
23
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 6
20980393 2010
24
Two children with "dropped head" syndrome due to lamin A/C mutations. 6
20886652 2010
25
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 6
20498703 2010
26
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 6
19524666 2009
27
Laminopathies in Russian families. 6
18564364 2008
28
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 6
18551513 2008
29
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 57
17761684 2007
30
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 6
16772334 2006
31
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 6
15744034 2005
32
Cardiac involvement in Emery-Dreifuss muscular dystrophy. 57
15691357 2005
33
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 6
15372542 2004
34
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
35
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 6
14684700 2003
36
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 6
14659775 2003
37
LMNA mutations in atypical Werner's syndrome. 6
12927431 2003
38
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 6
12920062 2003
39
A progeroid syndrome in mice is caused by defects in A-type lamins. 6
12748643 2003
40
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 6
12649505 2003
41
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 6
12628721 2003
42
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 6
12196663 2002
43
Structure of the globular tail of nuclear lamin. 6
11901143 2002
44
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 6
11503164 2001
45
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 6
10739764 2000
46
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 6
10662742 2000
47
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. 57
9949197 1999
48
In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. 6
1849984 1991
49
Emery-Dreifuss syndrome in three generations of females, including identical twins. 57
2289317 1990
50
Emery-Dreifuss syndrome. 57
2685312 1989

Variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
2 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic 14482 rs60934003 GRCh37: 1:156107004-156107004
GRCh38: 1:156137213-156137213
3 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) Microsatellite Pathogenic 66918 rs267607540 GRCh37: 1:156104300-156104302
GRCh38: 1:156134509-156134511
4 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic 66854 rs267607539 GRCh37: 1:156107028-156107028
GRCh38: 1:156137237-156137237
5 LMNA NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) SNV Pathogenic 14508 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
6 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic 14511 rs58048078 GRCh37: 1:156104733-156104733
GRCh38: 1:156134942-156134942
7 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic 14514 rs56699480 GRCh37: 1:156106808-156106808
GRCh38: 1:156137017-156137017
8 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
9 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 GRCh37: 1:156104620-156104620
GRCh38: 1:156134829-156134829
10 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 GRCh37: 1:156104630-156104630
GRCh38: 1:156134839-156134839
11 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic 208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
12 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic 216958 rs267607632 GRCh37: 1:156104767-156104767
GRCh38: 1:156134976-156134976
13 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
14 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) SNV Pathogenic 14524 rs121912496 GRCh37: 1:156104701-156104701
GRCh38: 1:156134910-156134910
15 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic 236201 rs878853220 GRCh37: 1:156100609-156100609
GRCh38: 1:156130818-156130818
16 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic 14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
17 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) Deletion Pathogenic 14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
18 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
19 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 GRCh37: 1:156084725-156084725
GRCh38: 1:156114934-156114934
20 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
21 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) SNV Pathogenic 14481 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
22 LMNA NM_170707.4(LMNA):c.409C>G (p.Leu137Val) SNV Likely pathogenic 858277 GRCh37: 1:156100460-156100460
GRCh38: 1:156130669-156130669
23 LMNA NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) SNV Likely pathogenic 488542 rs1553265999 GRCh37: 1:156106716-156106716
GRCh38: 1:156136925-156136925
24 LMNA NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) SNV Likely pathogenic 66925 rs57207746 GRCh37: 1:156104651-156104651
GRCh38: 1:156134860-156134860
25 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV Likely pathogenic 66849 rs57629361 GRCh37: 1:156106998-156106998
GRCh38: 1:156137207-156137207
26 LMNA NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) SNV Uncertain significance 617763 rs267607578 GRCh37: 1:156106743-156106743
GRCh38: 1:156136952-156136952
27 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
28 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
29 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
30 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) SNV Uncertain significance 48063 rs397517901 GRCh37: 1:156085059-156085059
GRCh38: 1:156115268-156115268
31 LMNA NM_005572.3(LMNA):c.-226C>T SNV Uncertain significance 292823 rs886045354 GRCh37: 1:156084484-156084484
GRCh38: 1:156114693-156114693
32 LMNA NM_005572.3(LMNA):c.-210T>C SNV Uncertain significance 292825 rs886045356 GRCh37: 1:156084500-156084500
GRCh38: 1:156114709-156114709
33 LMNA NM_170707.4(LMNA):c.-138T>C SNV Uncertain significance 292828 rs886045359 GRCh37: 1:156084572-156084572
GRCh38: 1:156114781-156114781
34 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain significance 873801 GRCh37: 1:156084666-156084666
GRCh38: 1:156114875-156114875
35 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain significance 292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
36 LMNA NM_170707.4(LMNA):c.514-11C>T SNV Uncertain significance 292836 rs886045365 GRCh37: 1:156104183-156104183
GRCh38: 1:156134392-156134392
37 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain significance 14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
38 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain significance 200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
39 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
40 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain significance 586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
41 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain significance 876083 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
42 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Uncertain significance 570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
43 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain significance 222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
44 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
45 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
46 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain significance 242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
47 LMNA NM_170707.4(LMNA):c.1698+57G>A SNV Uncertain significance 292840 rs557334569 GRCh37: 1:156107591-156107591
GRCh38: 1:156137800-156137800
48 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Uncertain significance 200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
49 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
50 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV Uncertain significance 292834 rs886045363 GRCh37: 1:156085003-156085003
GRCh38: 1:156115212-156115212

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

72 (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

Expression for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

Pathways for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
2
Show member pathways
12.49 LMNB1 LMNA LEMD3 EMD BANF1
3
Show member pathways
12.34 LMNB1 LMNA LEMD3 EMD BANF1
4 12.19 LMNB2 LMNB1 LMNA EMD
5
Show member pathways
11.9 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
6
Show member pathways
11.87 LMNB2 LMNB1 LMNA
7
Show member pathways
11.16 LMNB2 LMNB1 LMNA
8
Show member pathways
10.54 LMNB1 LMNA LEMD3 EMD BANF1

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

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
2 nucleus GO:0005634 10.32 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
3 nuclear inner membrane GO:0005637 9.85 ZMPSTE24 TMEM43 TMEM201 SUN2 SUN1 LMNB2
4 integral component of nuclear inner membrane GO:0005639 9.73 TMEM43 TMEM201 SUN2 SUN1 LEMD3 LBR
5 nuclear membrane GO:0031965 9.7 TMEM201 SYNE2 SYNE1 SUN2 SUN1 LMNB2
6 myofibril GO:0030016 9.65 SYNE2 MYOD1 CAPN3
7 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
8 nuclear outer membrane GO:0005640 9.58 SYNE2 SYNE1 EMD
9 spindle pole centrosome GO:0031616 9.51 TMEM201 EMD
10 cortical endoplasmic reticulum GO:0032541 9.49 TMEM201 EMD
11 nuclear lumen GO:0031981 9.46 SYNE2 MLIP
12 lamin filament GO:0005638 9.43 LMNB1 LMNA
13 nuclear envelope GO:0005635 9.4 ZMPSTE24 TMEM201 SYNE2 SYNE1 SUN2 SUN1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.77 MYOD1 LMNA EMD CAPN3 ANKRD2
2 muscle contraction GO:0006936 9.69 EMD DYSF ANKRD2
3 nucleus organization GO:0006997 9.62 ZMPSTE24 SYNE1 LMNA LEMD3
4 nuclear migration GO:0007097 9.61 TMEM201 SYNE2 SUN2
5 mitotic nuclear envelope reassembly GO:0007084 9.58 LMNA EMD BANF1
6 negative regulation of cardiac muscle hypertrophy in response to stress GO:1903243 9.49 MLIP LMNA
7 nuclear membrane organization GO:0071763 9.48 TMEM43 EMD
8 nuclear migration along microfilament GO:0031022 9.46 SYNE2 SUN2
9 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SYNE1 SUN2 SUN1
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SYNE2 SUN2 SUN1
11 centrosome localization GO:0051642 9.26 TMEM201 SYNE2 SUN2 SUN1
12 nuclear envelope organization GO:0006998 9.1 ZMPSTE24 TMEM201 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 9.96 ZMPSTE24 TMEM43 TMEM201 SYNE2 SYNE1 SUN2
2 protein membrane anchor GO:0043495 9.16 SUN2 SUN1
3 lamin binding GO:0005521 9.1 TMEM201 SYNE1 SUN2 SUN1 MLIP LBR

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....