EDMD2
MCID: EMR018
MIFTS: 52

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 75
Edmd2 57 12 59 75
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant 57 12 55
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 59 75 73
Scapuloilioperoneal Atrophy with Cardiopathy 57 12 75
Hauptmann-Thannhauser Muscular Dystrophy 57 12 75
Emd2 57 12 75
Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant 57 12
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 12 15
Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant 75
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly; Lgmd1b, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly 57
Cardiomyopathy, Dilated, with Quadriceps Myopathy 57
Muscular Dystrophy, Proximal, Type 1b, Formerly 57
Lgmd1b, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant;

OMIM:

57
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:

32
emery-dreifuss muscular dystrophy 2, autosomal dominant:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
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)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant, also known as edmd2, is related to emery-dreifuss muscular dystrophy and muscular dystrophy. 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 Cytoskeletal Signaling. Affiliated tissues include skeletal muscle, bone and heart, and related phenotypes are pectus excavatum and obesity

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 : 75 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 28)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 29.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB1
2 muscular dystrophy 28.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 MYOD1
3 emery-dreifuss muscular dystrophy 5, autosomal dominant 12.0
4 emery-dreifuss muscular dystrophy 4, autosomal dominant 12.0
5 emery-dreifuss muscular dystrophy 7, autosomal dominant 12.0
6 limb-girdle muscular dystrophy 10.6
7 autosomal dominant limb-girdle muscular dystrophy 10.2 LMNA EMD
8 cardiomyopathy, dilated, 1h 10.2 LMNA EMD
9 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TMEM43 LMNA
10 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TMEM43 LMNA
11 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
12 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 LMNB1 LMNA
13 cardiomyopathy, dilated, 1a 10.1 LMNA EMD
14 familial partial lipodystrophy 10.1 LMNA EMD
15 acquired generalized lipodystrophy 10.1 LMNB2 LMNA
16 emerinopathy 10.1 SUN2 LMNA EMD
17 arrhythmogenic right ventricular cardiomyopathy 10.0 TMEM43 LMNA EMD
18 emery-dreifuss muscular dystrophy 1, x-linked 10.0 MYOD1 LMNA EMD
19 spinocerebellar ataxia 31 10.0 SYNE1 LMNB1
20 muscle tissue disease 10.0 MYOD1 LMNA EMD
21 pelger-huet anomaly 10.0 LMNB2 LMNB1 LMNA EMD
22 autosomal dominant limb-girdle muscular dystrophy type 1b 10.0 YARS LMNA EMD
23 reynolds syndrome 9.9 SUN2 LMNB2 LMNB1 LMNA
24 myopathy, proximal, and ophthalmoplegia 9.9 LMNA EMD COL6A2
25 myopathy, tubular aggregate, 1 9.9 EMD DOK7
26 dilated cardiomyopathy 9.8 TMEM43 SYNE1 SUN2 LMNA EMD
27 muscular dystrophy, congenital, lmna-related 9.7 MYOD1 LMNA EMD COL6A2
28 muscular disease 9.5 MYOD1 LMNA EMD DOK7 COL6A2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 sudden cardiac death 59 32 very rare (1%) Very rare (<4-1%) HP:0001645
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
11 hypertrophic cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001639
12 atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0001678
13 respiratory insufficiency due to muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0002747
14 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
15 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
16 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
17 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
18 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
19 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785
20 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
21 achilles tendon contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001771
22 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
23 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
24 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
25 back pain 59 32 frequent (33%) Frequent (79-30%) HP:0003418
26 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
27 rimmed vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003805
28 decreased cervical spine flexion due to contractures of posterior cervical muscles 59 32 frequent (33%) Frequent (79-30%) HP:0004631
29 proximal upper limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008948
30 proximal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008956
31 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
32 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
33 type 1 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0011807
34 absent muscle fiber emerin 59 32 frequent (33%) Frequent (79-30%) HP:0030117
35 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
36 supraventricular arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005115
37 lipodystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009125
38 vocal cord paralysis 59 32 very rare (1%) Very rare (<4-1%) HP:0001605
39 ventricular escape rhythm 59 32 very rare (1%) Very rare (<4-1%) HP:0005155
40 intellectual disability 59 Excluded (0%)
41 gait disturbance 59 Frequent (79-30%)
42 myopathy 59 Very frequent (99-80%)
43 increased circulating low-density lipoprotein levels 59 Frequent (79-30%)
44 emg: myopathic abnormalities 59 Frequent (79-30%)
45 mildly elevated creatine phosphokinase 32 HP:0008180
46 limb-girdle muscle weakness 32 HP:0003325
47 peroneal muscle atrophy 32 HP:0009049
48 distal lower limb amyotrophy 32 HP:0008944
49 restricted neck movement due to contractures 32 HP:0005997
50 peroneal muscle weakness 32 HP:0011727

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 COL6A2 DOK7 LMNA LMNB1 LMNB2 MYOD1
2 behavior/neurological MP:0005386 10.03 COL6A2 DOK7 EMD LMNA SUN1 SUN2
3 cellular MP:0005384 10.01 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
4 homeostasis/metabolism MP:0005376 9.97 EMD LMNA LMNB1 LMNB2 MYOD1 SUN1
5 mortality/aging MP:0010768 9.96 DOK7 LMNA LMNB1 LMNB2 MYOD1 SUN1
6 muscle MP:0005369 9.85 DOK7 EMD LMNA LMNB1 LMNB2 MYOD1
7 nervous system MP:0003631 9.56 DOK7 LMNA LMNB1 LMNB2 SUN1 SUN2
8 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

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

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

41
Skeletal Muscle, Bone, Heart

Publications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

(show all 21)
# Title Authors Year
1
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
2
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. ( 19070492 )
2009
3
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. ( 18816602 )
2008
4
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
5
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17329105 )
2007
6
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17493893 )
2007
7
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). ( 17107595 )
2006
8
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15639119 )
2005
9
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 16218190 )
2005
10
Gene symbol: LMNA. Disease: EDMD2. ( 16156013 )
2005
11
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15063412 )
2004
12
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. ( 15053843 )
2004
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. ( 12032588 )
2002
14
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. ( 11731280 )
2002
15
[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. ( 12424964 )
2002
16
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 11930270 )
2002
17
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. ( 11532159 )
2001
18
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. ( 11360268 )
2001
19
Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. ( 10939567 )
2000
20
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). ( 10762524 )
2000
21
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. ( 10080180 )
1999

Variations for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

75 (show top 50) (show all 58)
# 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.Arg133Pro VAR_017657 rs60864230
18 LMNA p.Arg25Gly VAR_039746 rs58327533
19 LMNA p.Arg25Pro VAR_039747 rs61578124
20 LMNA p.Glu33Gly VAR_039751 rs267607614
21 LMNA p.Leu35Val VAR_039752 rs56694480
22 LMNA p.Ala43Thr VAR_039753 rs60446065
23 LMNA p.Arg50Ser VAR_039754 rs59931416
24 LMNA p.Ile63Asn VAR_039756 rs57793737
25 LMNA p.Glu65Gly VAR_039757
26 LMNA p.Leu140Pro VAR_039760 rs60652225
27 LMNA p.Thr150Pro VAR_039762 rs58917027
28 LMNA p.Arg190Gln VAR_039763 rs267607571
29 LMNA p.His222Pro VAR_039769 rs58034145
30 LMNA p.Gly232Glu VAR_039771 rs57207746
31 LMNA p.Leu248Pro VAR_039772 rs58850446
32 LMNA p.Tyr267Cys VAR_039774 rs57048196
33 LMNA p.Arg377Leu VAR_039777 rs61672878
34 LMNA p.Asp446Val VAR_039780 rs58541611
35 LMNA p.Asn456Ile VAR_039781 rs60992550
36 LMNA p.Asn456Lys VAR_039782 rs61235244
37 LMNA p.Trp520Ser VAR_039784 rs58362413
38 LMNA p.Thr528Arg VAR_039785 rs57629361
39 LMNA p.Arg541His VAR_039787 rs61444459
40 LMNA p.Arg541Ser VAR_039788 rs56984562
41 LMNA p.Arg624His VAR_039791 rs13768
42 LMNA p.Arg644Cys VAR_039792 rs142000963
43 LMNA p.Asn39Ser VAR_063588 rs57983345
44 LMNA p.Arg249Trp VAR_063589 rs121912496
45 LMNA p.Arg189Pro VAR_064962 rs267607643
46 LMNA p.Phe206Leu VAR_064964 rs267607629
47 LMNA p.Ser268Pro VAR_064965 rs267607630
48 LMNA p.Leu271Pro VAR_064966 rs267607641
49 LMNA p.Ser295Pro VAR_064967 rs267607633
50 LMNA p.Ser303Pro VAR_064968 rs61527854

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

6 (show top 50) (show all 68)
# 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_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh37 Chromosome 1, 156105714: 156105714
10 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh38 Chromosome 1, 156135923: 156135923
11 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh37 Chromosome 1, 156104620: 156104620
12 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh38 Chromosome 1, 156134829: 156134829
13 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
14 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
15 LMNA NM_170707.3(LMNA): c.398G> C (p.Arg133Pro) single nucleotide variant Uncertain significance rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
16 LMNA NM_170707.3(LMNA): c.398G> C (p.Arg133Pro) single nucleotide variant Uncertain significance rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
17 LMNA NM_170707.3(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh37 Chromosome 1, 156104733: 156104733
18 LMNA NM_170707.3(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh38 Chromosome 1, 156134942: 156134942
19 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh37 Chromosome 1, 156106808: 156106808
20 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh38 Chromosome 1, 156137017: 156137017
21 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
22 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh38 Chromosome 1, 156134910: 156134910
23 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
24 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
25 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
26 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
27 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh37 Chromosome 1, 156104630: 156104630
28 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh38 Chromosome 1, 156134839: 156134839
29 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
30 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh38 Chromosome 1, 156136093: 156136093
31 LMNA NM_170707.3(LMNA): c.781_783delAAG (p.Lys261del) deletion Pathogenic/Likely pathogenic rs58978449 GRCh37 Chromosome 1, 156104737: 156104739
32 LMNA NM_170707.3(LMNA): c.781_783delAAG (p.Lys261del) deletion Pathogenic/Likely pathogenic rs58978449 GRCh38 Chromosome 1, 156134946: 156134948
33 LMNA NM_170707.3(LMNA): c.1162C> T (p.Arg388Cys) single nucleotide variant Uncertain significance rs58133342 GRCh37 Chromosome 1, 156106009: 156106009
34 LMNA NM_170707.3(LMNA): c.1162C> T (p.Arg388Cys) single nucleotide variant Uncertain significance rs58133342 GRCh38 Chromosome 1, 156136218: 156136218
35 LMNA NM_170707.3(LMNA): c.1157G> A (p.Arg386Lys) single nucleotide variant Pathogenic rs267607545 GRCh37 Chromosome 1, 156105912: 156105912
36 LMNA NM_170707.3(LMNA): c.1157G> A (p.Arg386Lys) single nucleotide variant Pathogenic rs267607545 GRCh38 Chromosome 1, 156136121: 156136121
37 LMNA NM_170707.3(LMNA): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs57983345 GRCh37 Chromosome 1, 156084825: 156084825
38 LMNA NM_170707.3(LMNA): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs57983345 GRCh38 Chromosome 1, 156115034: 156115034
39 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
40 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
41 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
42 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
43 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh37 Chromosome 1, 156107028: 156107028
44 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh38 Chromosome 1, 156137237: 156137237
45 LMNA NM_170707.3(LMNA): c.618C> G (p.Phe206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs267607629 GRCh37 Chromosome 1, 156104298: 156104298
46 LMNA NM_170707.3(LMNA): c.618C> G (p.Phe206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs267607629 GRCh38 Chromosome 1, 156134507: 156134507
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

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 11)
# 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 9.63 LMNA LMNB1 LMNB2
3 integral component of nuclear inner membrane GO:0005639 9.62 SUN1 SUN2 TMEM201 TMEM43
4 nuclear membrane GO:0031965 9.61 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
5 nuclear outer membrane GO:0005640 9.58 EMD SYNE1 SYNE2
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SUN1 SUN2 SYNE1 SYNE2
7 lamin filament GO:0005638 9.54 LMNA LMNB1 LMNB2
8 myofibril GO:0030016 9.48 MYOD1 SYNE2
9 nuclear inner membrane GO:0005637 9.17 EMD LMNB1 LMNB2 SUN1 SUN2 TMEM201
10 membrane GO:0016020 10.24 COL6A2 DOK7 EMD LMNB1 LMNB2 SUN1
11 nucleus GO:0005634 10.21 DOK7 EMD LMNA LMNB1 LMNB2 MYOD1

Biological processes 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 organization GO:0006998 9.54 LMNA SUN1 SUN2
2 centrosome localization GO:0051642 9.5 SUN1 SUN2 SYNE2
3 skeletal muscle cell differentiation GO:0035914 9.48 EMD MYOD1
4 nucleus organization GO:0006997 9.46 LMNA SYNE1
5 mitotic nuclear envelope reassembly GO:0007084 9.43 EMD LMNA
6 nuclear migration GO:0007097 9.43 SUN2 SYNE2 TMEM201
7 nuclear migration along microfilament GO:0031022 9.4 SUN2 SYNE2
8 nuclear matrix anchoring at nuclear membrane GO:0090292 9.33 SUN1 SUN2 SYNE1
9 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SUN1 SUN2 SYNE2
10 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 structural molecule activity GO:0005198 9.43 LMNA LMNB1 LMNB2
2 actin filament binding GO:0051015 9.33 SYNE1 SYNE2 TMEM201
3 protein membrane anchor GO:0043495 8.96 SUN1 SUN2
4 lamin binding GO:0005521 8.92 SUN1 SUN2 SYNE1 TMEM201
5 protein binding GO:0005515 10.1 COL6A2 EMD LMNA LMNB1 LMNB2 MYOD1

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

3 CDC
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17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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