MCID: EMR018
MIFTS: 43

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases, Muscle 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 75
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 59 75 73
Edmd2 57 59 75
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant 57 55
Scapuloilioperoneal Atrophy with Cardiopathy 57 75
Hauptmann-Thannhauser Muscular Dystrophy 57 75
Emery-Dreifuss Muscular Dystrophy 2, Ad 57 13
Emd2 57 75
Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant 57
Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant 75

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


External Ids:

OMIM 57 181350
Orphanet 59 ORPHA98853
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0410190
MedGen 42 C0410190
MeSH 44 D020389
UMLS 73 C0410190

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 (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 autosomal dominant emery-dreifuss muscular dystrophy, 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 Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle and heart, and related phenotypes are dilated cardiomyopathy and sudden cardiac death

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 23)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 26.6 EMD LMNA SYNE1 SYNE2 TMEM43
2 muscular dystrophy 26.6 EMD LMNA SYNE1 SYNE2 TMEM43
3 emery-dreifuss muscular dystrophy 4, autosomal dominant 11.8
4 emery-dreifuss muscular dystrophy 5, autosomal dominant 11.8
5 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.6
6 emerinopathy 10.2 EMD LMNA
7 cardiomyopathy, dilated, 1h 10.2 EMD LMNA
8 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 LMNA TMEM43
9 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 LMNA TMEM43
10 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 LMNA TMEM43
11 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA
12 muscular dystrophy, limb-girdle, type 1b 10.1 EMD LMNA
13 pelger-huet anomaly 10.0 EMD LMNA
14 autosomal dominant limb-girdle muscular dystrophy 10.0 EMD LMNA
15 cardiomyopathy, dilated, 1a 10.0 EMD LMNA
16 familial partial lipodystrophy 10.0 EMD LMNA
17 muscular dystrophy, congenital, lmna-related 9.9 EMD LMNA
18 intrinsic cardiomyopathy 9.9 LMNA TMEM43
19 muscle tissue disease 9.8 EMD LMNA
20 congenital fiber-type disproportion 9.7 EMD LMNA
21 arrhythmogenic right ventricular cardiomyopathy 9.5 EMD LMNA TMEM43
22 atrial standstill 1 9.4 EMD LMNA
23 dilated cardiomyopathy 8.6 EMD LMNA SYNE1 TMEM43

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
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

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

Skeletal Feet:
achilles tendon 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

Head And Neck Neck:
restricted neck movement due to contractures

Laboratory Abnormalities:
moderately increased serum creatine kinase


Clinical features from OMIM:

181350

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 sudden cardiac death 32 HP:0001645
3 achilles tendon contracture 32 HP:0001771
4 elbow flexion contracture 32 HP:0002987
5 spinal rigidity 32 HP:0003306
6 limb-girdle muscle weakness 32 HP:0003325
7 scapular winging 32 HP:0003691
8 decreased cervical spine flexion due to contractures of posterior cervical muscles 32 HP:0004631
9 restricted neck movement due to contractures 32 HP:0005997
10 limb-girdle muscular dystrophy 32 HP:0006785
11 mildly elevated creatine phosphokinase 32 HP:0008180
12 distal lower limb amyotrophy 32 HP:0008944
13 peroneal muscle atrophy 32 HP:0009049
14 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 cardiovascular system MP:0005385 9.26 SYNE2 EMD LMNA SYNE1
2 muscle MP:0005369 8.92 EMD LMNA SYNE1 SYNE2

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, Heart

Publications for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

(show all 20)
# 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
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15063412 )
2004
11
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. ( 15053843 )
2004
12
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
13
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. ( 11731280 )
2002
14
[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. ( 12424964 )
2002
15
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 11930270 )
2002
16
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. ( 11532159 )
2001
17
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. ( 11360268 )
2001
18
Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. ( 10939567 )
2000
19
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). ( 10762524 )
2000
20
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 52)
# 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.398G> C (p.Arg133Pro) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
14 LMNA NM_170707.3(LMNA): c.398G> C (p.Arg133Pro) single nucleotide variant Pathogenic rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
15 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh37 Chromosome 1, 156104701: 156104701
16 LMNA NM_170707.3(LMNA): c.745C> T (p.Arg249Trp) single nucleotide variant Pathogenic rs121912496 GRCh38 Chromosome 1, 156134910: 156134910
17 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
18 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
19 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
20 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
21 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh37 Chromosome 1, 156104630: 156104630
22 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh38 Chromosome 1, 156134839: 156134839
23 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
24 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh38 Chromosome 1, 156136093: 156136093
25 LMNA NM_170707.3(LMNA): c.781_783delAAG (p.Lys261del) deletion Pathogenic/Likely pathogenic rs58978449 GRCh37 Chromosome 1, 156104737: 156104739
26 LMNA NM_170707.3(LMNA): c.781_783delAAG (p.Lys261del) deletion Pathogenic/Likely pathogenic rs58978449 GRCh38 Chromosome 1, 156134946: 156134948
27 LMNA NM_170707.3(LMNA): c.1157G> A (p.Arg386Lys) single nucleotide variant Pathogenic rs267607545 GRCh37 Chromosome 1, 156105912: 156105912
28 LMNA NM_170707.3(LMNA): c.1157G> A (p.Arg386Lys) single nucleotide variant Pathogenic rs267607545 GRCh38 Chromosome 1, 156136121: 156136121
29 LMNA NM_170707.3(LMNA): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs57983345 GRCh37 Chromosome 1, 156084825: 156084825
30 LMNA NM_170707.3(LMNA): c.116A> G (p.Asn39Ser) single nucleotide variant Pathogenic rs57983345 GRCh38 Chromosome 1, 156115034: 156115034
31 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
32 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
33 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
34 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
35 LMNA NM_170707.3(LMNA): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs57207746 GRCh37 Chromosome 1, 156104651: 156104651
36 LMNA NM_170707.3(LMNA): c.695G> A (p.Gly232Glu) single nucleotide variant Likely pathogenic rs57207746 GRCh38 Chromosome 1, 156134860: 156134860
37 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh37 Chromosome 1, 156104702: 156104702
38 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh38 Chromosome 1, 156134911: 156134911
39 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
40 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh38 Chromosome 1, 156115012: 156115014
41 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh37 Chromosome 1, 156084808: 156084808
42 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh38 Chromosome 1, 156115017: 156115017
43 LMNA NM_005572.3(LMNA): c.48delC (p.Ser17Alafs) deletion Pathogenic rs794726921 GRCh37 Chromosome 1, 156084757: 156084757
44 LMNA NM_005572.3(LMNA): c.48delC (p.Ser17Alafs) deletion Pathogenic rs794726921 GRCh38 Chromosome 1, 156114966: 156114966
45 LMNA NM_005572.3(LMNA): c.936+2T> C single nucleotide variant Pathogenic rs797045011 GRCh37 Chromosome 1, 156105105: 156105105
46 LMNA NM_005572.3(LMNA): c.936+2T> C single nucleotide variant Pathogenic rs797045011 GRCh38 Chromosome 1, 156135314: 156135314
47 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh37 Chromosome 1, 156104767: 156104767
48 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh38 Chromosome 1, 156134976: 156134976
49 LMNA NM_170707.3(LMNA): c.513+45T> G single nucleotide variant Pathogenic rs878853220 GRCh37 Chromosome 1, 156100609: 156100609
50 LMNA NM_170707.3(LMNA): c.513+45T> G single nucleotide variant Pathogenic rs878853220 GRCh38 Chromosome 1, 156130818: 156130818

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
12.62 EMD LMNA SYNE1 SYNE2
2
Show member pathways
11.49 EMD LMNA
3
Show member pathways
11.26 LMNA SYNE1 SYNE2
4
Show member pathways
10.47 EMD LMNA

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 membrane GO:0031965 9.46 EMD LMNA SYNE1 SYNE2
2 nuclear inner membrane GO:0005637 9.32 EMD TMEM43
3 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.26 SYNE1 SYNE2
4 nuclear envelope GO:0005635 9.26 EMD LMNA SYNE1 SYNE2
5 nuclear outer membrane GO:0005640 8.8 EMD SYNE1 SYNE2

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 mitotic nuclear envelope disassembly GO:0007077 9.37 EMD LMNA
2 protein localization to nucleus GO:0034504 9.32 LMNA SYNE2
3 nucleus organization GO:0006997 9.26 LMNA SYNE1
4 nuclear envelope organization GO:0006998 9.16 LMNA SYNE2
5 mitotic nuclear envelope reassembly GO:0007084 8.96 EMD LMNA
6 cytoskeletal anchoring at nuclear membrane GO:0090286 8.62 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 8.96 SYNE1 SYNE2
2 actin binding GO:0003779 8.8 EMD SYNE1 SYNE2

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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