Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EMR018 MIFTS: 43	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Categories: Genetic diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases, Muscle diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

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

SNOMED-CT via HPO ⁶⁹ 263681008 195021004 399020009 more

UMLS ⁷³ C0410190

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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.

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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:

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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 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

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

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

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

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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

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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 )	Sato M....Terada Y.	2016
2	Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. ( 19070492 )	Park Y.E....Nishino I.	2009
3	A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. ( 18816602 )	Kim H.Y....Sung I.H.	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 )	Muchir A....Worman H.J.	2007
5	Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17329105 )	Piercy R.J....Brown S.C.	2007
6	Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 17493893 )	Liang W.C....Jong Y.J.	2007
7	Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). ( 17107595 )	Mittelbronn M....Bornemann A.	2006
8	Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15639119 )	Walter M.C....LochmA1ller H.	2005
9	Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 16218190 )	Motsch I....Ellis J.A.	2005
10	Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. ( 15063412 )	Kichuk Chrisant M.R....Friedman N.R.	2004
11	Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. ( 15053843 )	Reichart B....Dabauvalle M.C.	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 )	Ki C.-S....Kim J.-W.	2002
13	Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. ( 11731280 )	Colomer J....FernA!ndez-Alvarez E.	2002
14	[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]. ( 12424964 )	Onishi Y....Hayashi Y.K.	2002
15	Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. ( 11930270 )	Mercuri E....Muntoni F.	2002
16	Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. ( 11532159 )	Sewry C.A....Muntoni F.	2001
17	Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. ( 11360268 )	Sabatelli P....Squarzoni S.	2001
18	Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. ( 10939567 )	Bonne G....Muntoni F.	2000
19	Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). ( 10762524 )	Mercuri E....Muntoni F.	2000
20	Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. ( 10080180 )	Bonne G....Schwartz K.	1999

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Genes for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

Genes related to Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LMNA	Lamin A/C	Protein Coding	1617.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	10080180 12196663 19084400 (more) 20301609 10662742 11503164 12927431 20301582 20301468 15148145 18551513 11532159 10587585 11102973 15639119 18396274 19124654 10838246 15773746 12376891 17107595 16478798 16825283 10080180 10838245 16481476 11792809 17493893 11799477 17467691
2	TMEM43	Transmembrane Protein 43	Protein Coding	350	Causative germline mutation ⁵⁹
3	SYNE2	Spectrin Repeat Containing Nuclear Envelope Protein 2	Protein Coding	350	Causative germline mutation ⁵⁹
4	SYNE1	Spectrin Repeat Containing Nuclear Envelope Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹
5	EMD	Emerin	Protein Coding	21.56	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11792810

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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

Sources

Expression for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

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

Sources

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	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	12.62	EMD LMNA SYNE1 SYNE2
2	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.49	EMD LMNA
3	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶	11.26	LMNA SYNE1 SYNE2
4	Initiation of Nuclear Envelope Reformation ⁶⁶ Show member pathways Clearance of Nuclear Envelope Membranes from Chromatin ⁶⁶ Nuclear Envelope Reassembly ⁶⁶	10.47	EMD LMNA

Sources

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

Sources for Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

¹ BioSystems

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia