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 58 12 76
Edmd2 58 12 60 76
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant 58 12 56
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 60 76 74
Scapuloilioperoneal Atrophy with Cardiopathy 58 12 76
Hauptmann-Thannhauser Muscular Dystrophy 58 12 76
Emd2 58 12 76
Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant 58 12
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 12 60
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 12 15
Cardiomyopathy, Dilated, with Quadriceps Myopathy 58 76
Muscular Dystrophy, Limb-Girdle, Type 1b 76 13
Limb-Girdle Muscular Dystrophy, Type 1b 30 6
Lgmd1b 60 76
Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant 76
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly; Lgmd1b, Formerly 58
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 60
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly 58
Muscular Dystrophy, Proximal, Type 1b, Formerly 58
Dystrophy, Muscular, Limb-Girdle, Type 1b 41
Muscular Dystrophy, Proximal, Type 1b 76
Limb-Girdle Muscular Dystrophy 1b 76
Lgmd1b, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1b
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adolescent,Childhood; Age of death: adult;
autosomal dominant emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant;

OMIM:

58
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:

33
emery-dreifuss muscular dystrophy 2, autosomal dominant:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

OMIM : 58 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 autosomal dominant limb-girdle muscular dystrophy and dilated cardiomyopathy. 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, heart and bone, and related phenotypes are pectus excavatum and joint stiffness

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 : 76 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 Emery-Dreifuss Muscular Dystrophy, Dominant Type

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 30.8 CAV3 EMD LMNA
2 dilated cardiomyopathy 30.1 EMD LMNA SUN2 SYNE1 TMEM43
3 muscular dystrophy 28.6 CAV3 EMD LMNA MYOD1 SUN1 SUN2
4 emery-dreifuss muscular dystrophy 28.3 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
5 limb-girdle muscular dystrophy type 1b 12.2
6 emery-dreifuss muscular dystrophy 5, autosomal dominant 12.1
7 emery-dreifuss muscular dystrophy 4, autosomal dominant 12.1
8 emery-dreifuss muscular dystrophy 7, autosomal dominant 12.0
9 lipodystrophy, familial partial, type 2 10.4
10 limb-girdle muscular dystrophy 10.4
11 cardiomyopathy, dilated, 1h 10.3 EMD LMNA
12 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 LMNA TMEM43
13 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 LMNA TMEM43
14 epilepsy 10.3
15 focal epilepsy 10.3
16 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 LMNA TMEM43
17 myopathy, proximal, and ophthalmoplegia 10.3 EMD LMNA
18 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.3 LMNA LMNB1
19 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
20 lipodystrophy, congenital generalized, type 4 10.2 CAV3 LMNA
21 progressive muscular atrophy 10.2 CAV3 LMNB1
22 muscular dystrophy-dystroglycanopathy , type b, 5 10.2 CAV3 LMNA
23 familial partial lipodystrophy 10.2 EMD LMNA
24 arrhythmogenic right ventricular cardiomyopathy 10.1 EMD LMNA TMEM43
25 emerinopathy 10.1 EMD LMNA SUN2
26 spinocerebellar ataxia 31 10.1 LMNB1 SYNE1
27 muscle hypertrophy 10.0
28 emery-dreifuss muscular dystrophy 1, x-linked 10.0 EMD LMNA MYOD1
29 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA MYOD1
30 pelger-huet anomaly 10.0 EMD LMNA LMNB1 LMNB2
31 acquired generalized lipodystrophy 10.0 LMNA LMNB2
32 reynolds syndrome 9.9 LMNA LMNB1 LMNB2 SUN2
33 muscle tissue disease 9.9 CAV3 EMD LMNA MYOD1
34 muscular disease 9.5 CAV3 DOK7 EMD LMNA MYOD1

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:

60 33 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486
4 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
5 limb-girdle muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006785
6 fatiguable weakness of proximal limb muscles 60 33 hallmark (90%) Very frequent (99-80%) HP:0030200
7 elevated serum creatine kinase 33 frequent (33%) HP:0003236
8 sudden cardiac death 60 33 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0001645
9 hypertriglyceridemia 60 33 frequent (33%) Frequent (79-30%) HP:0002155
10 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
11 achilles tendon contracture 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001771
12 waddling gait 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002515
13 elbow flexion contracture 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002987
14 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
15 back pain 60 33 frequent (33%) Frequent (79-30%) HP:0003418
16 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
17 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
18 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
19 decreased cervical spine flexion due to contractures of posterior cervical muscles 60 33 frequent (33%) Frequent (79-30%) HP:0004631
20 proximal upper limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008948
21 proximal lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008956
22 proximal muscle weakness in lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008994
23 proximal muscle weakness in upper limbs 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008997
24 type 1 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0011807
25 absent muscle fiber emerin 60 33 frequent (33%) Frequent (79-30%) HP:0030117
26 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
27 abnormal atrioventricular conduction 60 33 frequent (33%) Frequent (79-30%) HP:0005150
28 muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003560
29 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046
30 syncope 60 33 frequent (33%) Frequent (79-30%) HP:0001279
31 atrial fibrillation 60 33 frequent (33%) Frequent (79-30%) HP:0005110
32 bradycardia 60 33 frequent (33%) Frequent (79-30%) HP:0001662
33 limb-girdle muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003797
34 increased ldl cholesterol concentration 33 frequent (33%) HP:0003141
35 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
36 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
37 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
38 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
39 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
40 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
41 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
42 neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001319
43 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
44 atrioventricular block 60 33 occasional (7.5%) Occasional (29-5%) HP:0001678
45 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
46 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001644
47 supraventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005115
48 lipodystrophy 60 33 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0009125
49 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
50 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
dilated cardiomyopathy
cardiac conduction defects
cardiac arrhythmias
increased risk of sudden cardiac death

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Head And Neck Neck:
restricted neck movement due to 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

Skeletal Limbs:
elbow 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 CAV3 EMD LEMD3 LMNA LMNB1 LMNB2
2 growth/size/body region MP:0005378 9.97 DOK7 LMNA LMNB1 LMNB2 MYOD1 SUN1
3 homeostasis/metabolism MP:0005376 9.91 CAV3 EMD LMNA LMNB1 LMNB2 MYOD1
4 mortality/aging MP:0010768 9.9 DOK7 LEMD3 LMNA LMNB1 LMNB2 MYOD1
5 muscle MP:0005369 9.7 CAV3 DOK7 EMD LMNA LMNB1 LMNB2
6 respiratory system MP:0005388 9.17 DOK7 LMNA LMNB1 LMNB2 MYOD1 SYNE1

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 Limb-Girdle Muscular Dystrophy, Type 1b 30

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

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

42
Skeletal Muscle, Heart, Bone

Publications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

(show all 38)
# Title Authors Year
1
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ( 30055862 )
2018
2
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
3
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. ( 19070492 )
2009
4
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. ( 19084400 )
2009
5
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. ( 18816602 )
2008
6
De novo LMNA mutations cause a new form of congenital muscular dystrophy. ( 18551513 )
2008
7
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17329105 )
2007
8
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17493893 )
2007
9
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. ( 17567779 )
2007
10
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. ( 17136397 )
2007
11
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). ( 17107595 )
2006
12
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15639119 )
2005
13
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 16218190 )
2005
14
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. ( 15668447 )
2005
15
Gene symbol: LMNA. Disease: EDMD2. ( 16156013 )
2005
16
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. ( 15053843 )
2004
17
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15063412 )
2004
18
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. ( 15148145 )
2004
19
LMNA mutations in atypical Werner's syndrome. ( 12927431 )
2003
20
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. ( 12920062 )
2003
21
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. ( 12628721 )
2003
22
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. ( 12673789 )
2003
23
A progeroid syndrome in mice is caused by defects in A-type lamins. ( 12748643 )
2003
24
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. ( 11731280 )
2002
25
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 11930270 )
2002
26
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. ( 12032588 )
2002
27
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. ( 12196663 )
2002
28
[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. ( 12424964 )
2002
29
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. ( 11360268 )
2001
30
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. ( 11503164 )
2001
31
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. ( 11532159 )
2001
32
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). ( 10762524 )
2000
33
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. ( 10939567 )
2000
34
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. ( 10662742 )
2000
35
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). ( 10814726 )
2000
36
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. ( 10080180 )
1999
37
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. ( 9106535 )
1997
38
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. ( 8619549 )
1996

Variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

76 (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

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

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs61046466 GRCh37 Chromosome 1, 156084725: 156084725
2 LMNA NM_170707.3(LMNA): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs61046466 GRCh38 Chromosome 1, 156114934: 156114934
3 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
4 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh38 Chromosome 1, 156136413: 156136413
5 LMNA NM_170707.3(LMNA): c.1580G> C (p.Arg527Pro) single nucleotide variant Pathogenic rs57520892 GRCh37 Chromosome 1, 156106995: 156106995
6 LMNA NM_170707.3(LMNA): c.1580G> C (p.Arg527Pro) single nucleotide variant Pathogenic rs57520892 GRCh38 Chromosome 1, 156137204: 156137204
7 LMNA NM_170707.3(LMNA): c.1589T> C (p.Leu530Pro) single nucleotide variant Pathogenic rs60934003 GRCh37 Chromosome 1, 156107004: 156107004
8 LMNA NM_170707.3(LMNA): c.1589T> C (p.Leu530Pro) single nucleotide variant Pathogenic rs60934003 GRCh38 Chromosome 1, 156137213: 156137213
9 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
10 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
11 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh37 Chromosome 1, 156105714: 156105714
12 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh38 Chromosome 1, 156135923: 156135923
13 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh37 Chromosome 1, 156104620: 156104620
14 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh38 Chromosome 1, 156134829: 156134829
15 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
16 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
17 LMNA NM_170707.3(LMNA): c.398G> C (p.Arg133Pro) single nucleotide variant Uncertain significance rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
18 LMNA NM_170707.3(LMNA): c.398G> C (p.Arg133Pro) single nucleotide variant Uncertain significance rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
19 LMNA NM_170707.2(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh37 Chromosome 1, 156104733: 156104733
20 LMNA NM_170707.2(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh38 Chromosome 1, 156134942: 156134942
21 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh37 Chromosome 1, 156106808: 156106808
22 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh38 Chromosome 1, 156137017: 156137017
23 LMNA NM_005572.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
24 LMNA NM_005572.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh38 Chromosome 1, 156134910: 156134910
25 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
26 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
27 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
28 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
29 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh37 Chromosome 1, 156104630: 156104630
30 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh38 Chromosome 1, 156134839: 156134839
31 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
32 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh38 Chromosome 1, 156136093: 156136093
33 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
34 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
35 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
36 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
37 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
38 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh38 Chromosome 1, 156134838: 156134838
39 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh37 Chromosome 1, 156106090: 156106090
40 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh38 Chromosome 1, 156136299: 156136299
41 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh37 Chromosome 1, 156106820: 156106820
42 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh38 Chromosome 1, 156137029: 156137029
43 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
44 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
45 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh37 Chromosome 1, 156107028: 156107028
46 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh38 Chromosome 1, 156137237: 156137237
47 LMNA NM_170707.3(LMNA): c.624_626delGAA (p.Lys208del) deletion Pathogenic rs267607540 GRCh37 Chromosome 1, 156104304: 156104306
48 LMNA NM_170707.3(LMNA): c.624_626delGAA (p.Lys208del) deletion Pathogenic rs267607540 GRCh38 Chromosome 1, 156134513: 156134515
49 LMNA NM_170707.3(LMNA): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs57207746 GRCh37 Chromosome 1, 156104651: 156104651
50 LMNA NM_170707.3(LMNA): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs57207746 GRCh38 Chromosome 1, 156134860: 156134860

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
12.92 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
2
Show member pathways
12.46 EMD LEMD3 LMNA LMNB1
3
Show member pathways
12.29 EMD LEMD3 LMNA LMNB1
4 12.11 EMD LMNA LMNB1 LMNB2
5
Show member pathways
11.9 LMNA LMNB1 SUN1 SUN2 SYNE1 SYNE2
6
Show member pathways
11.89 LMNA LMNB1 LMNB2
7 11.85 LMNA LMNB1 LMNB2
8
Show member pathways
11.12 LMNA LMNB1 LMNB2
9
Show member pathways
10.44 EMD LEMD3 LMNA LMNB1

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:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.76 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
2 intermediate filament GO:0005882 9.65 LMNA LMNB1 LMNB2
3 integral component of nuclear inner membrane GO:0005639 9.65 LEMD3 SUN1 SUN2 TMEM201 TMEM43
4 nuclear membrane GO:0031965 9.65 EMD LEMD3 LMNA LMNB1 LMNB2 SUN1
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SUN1 SUN2 SYNE1 SYNE2
6 nuclear outer membrane GO:0005640 9.58 EMD SYNE1 SYNE2
7 lamin filament GO:0005638 9.54 LMNA LMNB1 LMNB2
8 nuclear inner membrane GO:0005637 9.23 EMD LEMD3 LMNB1 LMNB2 SUN1 SUN2
9 nucleus GO:0005634 10.25 DOK7 EMD LEMD3 LMNA LMNB1 LMNB2
10 membrane GO:0016020 10.23 CAV3 DOK7 EMD LEMD3 LMNB1 LMNB2

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 9.67 CAV3 EMD MYOD1
2 nucleus organization GO:0006997 9.61 LEMD3 LMNA SYNE1
3 centrosome localization GO:0051642 9.54 SUN1 SUN2 SYNE2
4 myoblast fusion GO:0007520 9.51 CAV3 MYOD1
5 nuclear migration GO:0007097 9.5 SUN2 SYNE2 TMEM201
6 myotube differentiation GO:0014902 9.48 CAV3 MYOD1
7 mitotic nuclear envelope reassembly GO:0007084 9.46 EMD LMNA
8 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SUN1 SUN2 SYNE1
9 nuclear migration along microfilament GO:0031022 9.4 SUN2 SYNE2
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SUN1 SUN2 SYNE2
11 nuclear envelope organization GO:0006998 9.26 LEMD3 LMNA SUN1 SUN2
12 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SUN1 SUN2 SYNE1 SYNE2

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 actin filament binding GO:0051015 9.5 SYNE1 SYNE2 TMEM201
2 protein membrane anchor GO:0043495 9.16 SUN1 SUN2
3 structural molecule activity GO:0005198 9.13 CAV3 LMNB1 LMNB2
4 lamin binding GO:0005521 8.92 SUN1 SUN2 SYNE1 TMEM201
5 protein binding GO:0005515 10.07 CAV3 EMD LEMD3 LMNA LMNB1 LMNB2

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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