Emery-Dreifuss Muscular Dystrophy 1, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EDMD1 MCID: EMR017 MIFTS: 41	Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EDMD1) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy 1, X-Linked ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶

Edmd1 ⁵⁸ ¹² ⁷⁶

Emd1 ⁵⁸ ¹² ⁷⁶

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures ⁵⁸ ¹²

X-Linked Emery-Dreifuss Muscular Dystrophy 1 ¹² ¹⁵

X-Linked Emery-Dreifuss Muscular Dystrophy ⁷⁶ ⁷⁴

Humeroperoneal Neuromuscular Disease ¹² ⁷⁶

Muscular Dystrophy Tardive Dreifuss-Emery Type with Contractures ⁷⁶

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked ⁴¹

Humeroperoneal Neuromuscular Disease, Formerly ⁵⁸

Scapuloperoneal Syndrome, X-Linked, Formerly ⁵⁸

Scapuloperoneal Syndrome, X-Linked ¹²

Scapuloperoneal Syndrome X-Linked ⁷⁶

X-Edmd ⁷⁶

Characteristics:

OMIM:

⁵⁸

Miscellaneous:
onset in childhood
adult onset has been rarely reported
risk of sudden death due to cardiac defects
female carriers may have cardiac defects

Inheritance:
x-linked recessive

HPO:

³³

emery-dreifuss muscular dystrophy 1, x-linked:
Onset and clinical course childhood onset slow progression juvenile onset
Inheritance x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070246

OMIM ⁵⁸ 310300

MeSH ⁴⁵ D020389

MedGen ⁴³ C0751337 C2931858 CN069573

SNOMED-CT via HPO ⁷⁰ 129565002 17366009 202271004 more

UMLS ⁷⁴ C0751337

Sources

Summaries for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

OMIM : ⁵⁸ Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (300376). (310300)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as edmd1, is related to emery-dreifuss muscular dystrophy and muscular dystrophy, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy 1, X-Linked is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Affiliated tissues include skin, heart and adipocyte, and related phenotypes are pectus excavatum and sudden cardiac death

Disease Ontology : ¹² An Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of EMD on chromosome Xq28.

UniProtKB/Swiss-Prot : ⁷⁶ Emery-Dreifuss muscular dystrophy 1, X-linked: 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.

Sources

Related Diseases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	emery-dreifuss muscular dystrophy	31.9	BANF1 EMD LEMD3 LMNA
2	muscular dystrophy	31.3	EMD LMNA MYOD1
3	emery-dreifuss muscular dystrophy 2, autosomal dominant	31.2	EMD LMNA MYOD1
4	neuromuscular disease	30.5	EMD LMNA
5	scapuloperoneal myopathy, myh7-related	11.7
6	scapuloperoneal myopathy, x-linked dominant	11.4
7	emery-dreifuss muscular dystrophy, x-linked	11.1
8	myopathy, x-linked, with postural muscle atrophy	11.1
9	lipomatosis, multiple	10.5
10	pleomorphic lipoma	10.5
11	limb-girdle muscular dystrophy	10.5
12	emerinopathy	10.1	EMD LMNA
13	cardiomyopathy, dilated, 1h	10.1	EMD LMNA
14	myopathy, proximal, and ophthalmoplegia	10.1	EMD LMNA
15	autosomal dominant limb-girdle muscular dystrophy	10.1	EMD LMNA
16	pelger-huet anomaly	10.1	EMD LMNA
17	cardiomyopathy, dilated, 1a	10.0	EMD LMNA
18	familial partial lipodystrophy	10.0	EMD LMNA
19	congenital fiber-type disproportion	10.0	EMD LMNA
20	atrial standstill 1	9.9	EMD LMNA
21	arrhythmogenic right ventricular cardiomyopathy	9.8	EMD LMNA
22	muscle tissue disease	9.6	EMD LMNA MYOD1
23	muscular dystrophy, congenital, lmna-related	9.6	EMD LMNA MYOD1
24	muscular disease	9.6	EMD LMNA MYOD1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Sources

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

³³ (show all 12)

#	Description	HPO Source Accession
1	pectus excavatum ³³	HP:0000767
2	sudden cardiac death ³³	HP:0001645
3	myopathy ³³	HP:0003198
4	atrioventricular block ³³	HP:0001678
5	achilles tendon contracture ³³	HP:0001771
6	waddling gait ³³	HP:0002515
7	elbow flexion contracture ³³	HP:0002987
8	decreased cervical spine flexion due to contractures of posterior cervical muscles ³³	HP:0004631
9	type 1 muscle fiber atrophy ³³	HP:0011807
10	abnormality of the neck ³³	HP:0000464
11	elevated serum creatine kinase ³³	HP:0003236
12	atrial arrhythmia ³³	HP:0001692

Symptoms via clinical synopsis from OMIM:

⁵⁸

Cardiovascular Heart:
atrioventricular block
cardiac conduction defects
atrial arrhythmias

Laboratory Abnormalities:
increased serum creatine kinase
atrial abnormalities on electrocardiogram
myopathy with type i fiber atrophy on muscle biopsy
absence of emerin by immunohistochemistry on muscle biopsy

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Skeletal Feet:
contractures of the achilles tendon

Neurologic Central Nervous System:
waddling gait
tendency to walk on toes

Skeletal Limbs:
contractures of the elbows

Head And Neck Neck:
contracture of post-cervical muscles

Muscle Soft Tissue:
slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution
absence of muscle pseudohypertrophy

Clinical features from OMIM:

310300

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

waddling gait

Sources

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Sources

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

#	Genetic test	Affiliating Genes
1	Emery-Dreifuss Muscular Dystrophy 1, X-Linked ³⁰	EMD

Sources

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁴²

Skin, Heart, Adipocyte

Sources

Publications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

(show all 33)

#	Title	Authors	Year
1	Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients. ( 30871242 )	Dubi?ska-Magiera M...Rzepecki R	2019
2	Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )	Spanu F...Saba L	2018
3	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )	Morris GE	2015
4	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )	Meinke P...Walter MC	2015
5	Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )	Carboni N...Marrosu MG	2012
6	Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )	Ishikawa K...Tanaka T	2011
7	Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )	Nigro G...Politano L	2010
8	X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )	Fidzianska A...Wehnert M	2010
9	Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. ( 17462627 )	Wheeler MA...Ellis JA	2007
10	X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )	Paradas C...Illa I	2005
11	The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ( 15272897 )	Vytopil M...Lukas Z	2004
12	Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )	Talkop UA...Talvik T	2002
13	Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )	Markiewicz E...Hutchison C	2002
14	CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )	Tsukahara T...Arahata K	2002
15	A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )	Vohanka S...Toniolo D	2001
16	Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )	Wolff N...Zinn-Justin S	2001
17	Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )	Di Blasi C...Mora M	2000
18	Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )	Canki-Klain N...Zurak N	2000
19	60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )	Wehnert M...Muntoni F	1999
20	Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )	Ellis JA...Brown CA	1999
21	Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )	Yates JR...Ellis JA	1999
22	Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )	Hoeltzenbein M...Wehnert MS	1999
23	Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )	Ognibene A...Maraldi NM	1999
24	Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )	Fujimoto S...Nonaka I	1999
25	Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )	Sabatelli P...Maraldi NM	1998
26	Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )	Muntoni F...Dubowitz V	1998
27	Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )	Manilal S...Morris GE	1997
28	Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )	Wulff K...Wehnert M	1997
29	Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )	Wulff K...Wehnert M	1997
30	X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )	Mora M...Toniolo D	1997
31	Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )	Fishbein MC...Hopkins LC	1993
32	Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )	Wehnert M...Herrmann FH	1991
33	Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )	Wyse DG...Brownell AK	1987

Sources

Genes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EMD	Emerin	Protein Coding	1338.16	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301609
2	LMNA	Lamin A/C	Protein Coding	16.14	DISEASES inferred ¹⁵
3	LEMD3	LEM Domain Containing 3	Protein Coding	15.97	DISEASES inferred ¹⁵
4	BANF1	Barrier To Autointegration Factor 1	Protein Coding	15.12	DISEASES inferred ¹⁵
5	MYOD1	Myogenic Differentiation 1	Protein Coding	14.56	DISEASES inferred ¹⁵
6	LEXM	Lymphocyte Expansion Molecule	Protein Coding	5.87	DISEASES inferred ¹⁵

Sources

Variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	EMD	p.Ser54Phe	VAR_005198
2	EMD	p.Pro183His	VAR_005199	rs104894805
3	EMD	p.Pro183Thr	VAR_005200	rs104894806
4	EMD	p.Gln133His	VAR_016016

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

⁶ (show top 50) (show all 111)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EMD	NM_000117.2(EMD): c.470G> A (p.Arg157Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148515772	GRCh37	Chromosome X, 153609262: 153609262
2	EMD	NM_000117.2(EMD): c.470G> A (p.Arg157Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148515772	GRCh38	Chromosome X, 154380902: 154380902
3	EMD	NM_000117.2(EMD): c.495G> A (p.Thr165=)	single nucleotide variant	Likely benign	rs151074632	GRCh37	Chromosome X, 153609287: 153609287
4	EMD	NM_000117.2(EMD): c.144C> T (p.Leu48=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200537612	GRCh37	Chromosome X, 153608111: 153608111
5	EMD	NM_000117.2(EMD): c.144C> T (p.Leu48=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200537612	GRCh38	Chromosome X, 154379751: 154379751
6	EMD	NM_000117.2(EMD): c.272A> G (p.Asn91Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137977232	GRCh37	Chromosome X, 153608600: 153608600
7	EMD	NM_000117.2(EMD): c.272A> G (p.Asn91Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137977232	GRCh38	Chromosome X, 154380240: 154380240
8	EMD	NM_000117.2(EMD): c.396C> T (p.His132=)	single nucleotide variant	Benign/Likely benign	rs145985318	GRCh37	Chromosome X, 153608724: 153608724
9	EMD	NM_000117.2(EMD): c.396C> T (p.His132=)	single nucleotide variant	Benign/Likely benign	rs145985318	GRCh38	Chromosome X, 154380364: 154380364
10	EMD	NM_000117.2(EMD): c.465C> T (p.Tyr155=)	single nucleotide variant	Benign	rs143447675	GRCh37	Chromosome X, 153609257: 153609257
11	EMD	NM_000117.2(EMD): c.465C> T (p.Tyr155=)	single nucleotide variant	Benign	rs143447675	GRCh38	Chromosome X, 154380897: 154380897
12	EMD	NM_000117.2(EMD): c.495G> A (p.Thr165=)	single nucleotide variant	Likely benign	rs151074632	GRCh38	Chromosome X, 154380927: 154380927
13	EMD	NM_000117.2(EMD): c.646G> A (p.Gly216Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147920229	GRCh37	Chromosome X, 153609438: 153609438
14	EMD	NM_000117.2(EMD): c.646G> A (p.Gly216Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147920229	GRCh38	Chromosome X, 154381078: 154381078
15	EMD	NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)	deletion	Likely pathogenic	rs398123156	GRCh37	Chromosome X, 153608612: 153608626
16	EMD	NM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)	deletion	Likely pathogenic	rs398123156	GRCh38	Chromosome X, 154380252: 154380266
17	EMD	NM_000117.2(EMD): c.598T> C (p.Trp200Arg)	single nucleotide variant	Uncertain significance	rs374981936	GRCh37	Chromosome X, 153609390: 153609390
18	EMD	NM_000117.2(EMD): c.598T> C (p.Trp200Arg)	single nucleotide variant	Uncertain significance	rs374981936	GRCh38	Chromosome X, 154381030: 154381030
19	EMD	NM_000117.2(EMD): c.70G> A (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs727504628	GRCh38	Chromosome X, 154379554: 154379554
20	EMD	NM_000117.2(EMD): c.70G> A (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs727504628	GRCh37	Chromosome X, 153607914: 153607914
21	EMD	NM_000117.2(EMD): c.454C> T (p.Arg152Cys)	single nucleotide variant	Uncertain significance	rs376456050	GRCh37	Chromosome X, 153609246: 153609246
22	EMD	NM_000117.2(EMD): c.454C> T (p.Arg152Cys)	single nucleotide variant	Uncertain significance	rs376456050	GRCh38	Chromosome X, 154380886: 154380886
23	EMD	NM_000117.2(EMD): c.103G> A (p.Glu35Lys)	single nucleotide variant	Uncertain significance	rs782222974	GRCh37	Chromosome X, 153608070: 153608070
24	EMD	NM_000117.2(EMD): c.103G> A (p.Glu35Lys)	single nucleotide variant	Uncertain significance	rs782222974	GRCh38	Chromosome X, 154379710: 154379710
25	EMD	NM_000117.2(EMD): c.466G> A (p.Gly156Ser)	single nucleotide variant	Likely benign	rs144594695	GRCh37	Chromosome X, 153609258: 153609258
26	EMD	NM_000117.2(EMD): c.466G> A (p.Gly156Ser)	single nucleotide variant	Likely benign	rs144594695	GRCh38	Chromosome X, 154380898: 154380898
27	EMD	NM_000117.2(EMD): c.608G> A (p.Arg203His)	single nucleotide variant	Uncertain significance	rs144842093	GRCh37	Chromosome X, 153609400: 153609400
28	EMD	NM_000117.2(EMD): c.608G> A (p.Arg203His)	single nucleotide variant	Uncertain significance	rs144842093	GRCh38	Chromosome X, 154381040: 154381040
29	EMD	NM_000117.2(EMD): c.610C> T (p.Arg204Cys)	single nucleotide variant	Uncertain significance	rs782299893	GRCh37	Chromosome X, 153609402: 153609402
30	EMD	NM_000117.2(EMD): c.610C> T (p.Arg204Cys)	single nucleotide variant	Uncertain significance	rs782299893	GRCh38	Chromosome X, 154381042: 154381042
31	EMD	NM_000117.2(EMD): c.671C> T (p.Pro224Leu)	single nucleotide variant	Uncertain significance	rs782559230	GRCh37	Chromosome X, 153609463: 153609463
32	EMD	NM_000117.2(EMD): c.671C> T (p.Pro224Leu)	single nucleotide variant	Uncertain significance	rs782559230	GRCh38	Chromosome X, 154381103: 154381103
33	EMD	NM_000117.2(EMD): c.400-9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782061626	GRCh38	Chromosome X, 154380744: 154380744
34	EMD	NM_000117.2(EMD): c.400-9C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782061626	GRCh37	Chromosome X, 153609104: 153609104
35	EMD	NM_000117.2(EMD): c.57C> T (p.Tyr19=)	single nucleotide variant	Likely benign	rs371661299	GRCh37	Chromosome X, 153607901: 153607901
36	EMD	NM_000117.2(EMD): c.57C> T (p.Tyr19=)	single nucleotide variant	Likely benign	rs371661299	GRCh38	Chromosome X, 154379541: 154379541
37	EMD	NM_000117.2(EMD): c.153dupC (p.Ser52Glnfs)	duplication	Pathogenic	rs876661345	GRCh38	Chromosome X, 154379760: 154379760
38	EMD	NM_000117.2(EMD): c.153dupC (p.Ser52Glnfs)	duplication	Pathogenic	rs876661345	GRCh37	Chromosome X, 153608120: 153608120
39	EMD	NM_000117.2(EMD): c.-248_*326dup1339	duplication	Uncertain significance		GRCh38	Chromosome X, 154379237: 154381523
40	EMD	NM_000117.2(EMD): c.-248_*326dup1339	duplication	Uncertain significance		GRCh37	Chromosome X, 153607597: 153609883
41	EMD	NM_000117.2(EMD): c.428C> T (p.Ser143Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139983160	GRCh38	Chromosome X, 154380781: 154380781
42	EMD	NM_000117.2(EMD): c.428C> T (p.Ser143Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139983160	GRCh37	Chromosome X, 153609141: 153609141
43	EMD	NM_000117.2(EMD): c.445G> C (p.Asp149His)	single nucleotide variant	Benign	rs2070818	GRCh37	Chromosome X, 153609158: 153609158
44	EMD	NM_000117.2(EMD): c.445G> C (p.Asp149His)	single nucleotide variant	Benign	rs2070818	GRCh38	Chromosome X, 154380798: 154380798
45	EMD	NM_000117.2(EMD): c.60delC (p.Asn20Lysfs)	deletion	Pathogenic/Likely pathogenic	rs886041854	GRCh37	Chromosome X, 153607904: 153607904
46	EMD	NM_000117.2(EMD): c.60delC (p.Asn20Lysfs)	deletion	Pathogenic/Likely pathogenic	rs886041854	GRCh38	Chromosome X, 154379544: 154379544
47	EMD	NM_000117.2(EMD): c.525C> T (p.Ser175=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782367505	GRCh37	Chromosome X, 153609317: 153609317
48	EMD	NM_000117.2(EMD): c.525C> T (p.Ser175=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782367505	GRCh38	Chromosome X, 154380957: 154380957
49	EMD	NM_000117.2(EMD): c.502C> T (p.Arg168Cys)	single nucleotide variant	Uncertain significance	rs886044839	GRCh37	Chromosome X, 153609294: 153609294
50	EMD	NM_000117.2(EMD): c.502C> T (p.Arg168Cys)	single nucleotide variant	Uncertain significance	rs886044839	GRCh38	Chromosome X, 154380934: 154380934

Sources

Expression for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 1, X-Linked.

Sources

Pathways for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Pathways related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁷ Show member pathways Cell Cycle ⁶⁷ M Phase ⁶⁷	12.78	BANF1 EMD LEMD3 LMNA
2	Transport of the SLBP independent Mature mRNA ⁶⁷ Show member pathways Activation of NIMA Kinases NEK9, NEK6, NEK7 ⁶⁷ Antiviral mechanism by IFN-stimulated genes ⁶⁷ Depolymerisation of the Nuclear Lamina ⁶⁷ Export of Viral Ribonucleoproteins from Nucleus ⁶⁷ Host Interactions with Influenza Factors ⁶⁷ Influenza Virus Induced Apoptosis ⁶⁷ Interactions of Rev with host cellular proteins ⁶⁷ Interactions of Vpr with host cellular proteins ⁶⁷ ISG15 antiviral mechanism ⁶⁷ Metabolism of non-coding RNA ⁶⁷ NEP/NS2 Interacts with the Cellular Export Machinery ⁶⁷ NS1 Mediated Effects on Host Pathways ⁶⁷ Nuclear Envelope Breakdown ⁶⁷ Nuclear import of Rev protein ⁶⁷ Nuclear Pore Complex (NPC) Disassembly ⁶⁷ Regulation of Glucokinase by Glucokinase Regulatory Protein ⁶⁷ Rev-mediated nuclear export of HIV RNA ⁶⁷ snRNP Assembly ⁶⁷ SUMOylation of DNA replication proteins ⁶⁷ SUMOylation of RNA binding proteins ⁶⁷ Transport of Mature mRNA Derived from an Intronless Transcript ⁶⁷ Transport of Mature mRNAs Derived from Intronless Transcripts ⁶⁷ Transport of Ribonucleoproteins into the Host Nucleus ⁶⁷ Transport of the SLBP Dependant Mature mRNA ⁶⁷ Viral Messenger RNA Synthesis ⁶⁷ Vpr-mediated nuclear import of PICs ⁶⁷	12.58	BANF1 EMD LEMD3 LMNA
3	Mitotic Metaphase and Anaphase ⁶⁷ Show member pathways Mitotic Anaphase ⁶⁷ Separation of Sister Chromatids ⁶⁷	12.18	BANF1 EMD LEMD3 LMNA
4	Mitotic Prophase ⁶⁷ Show member pathways Gene Silencing by RNA ⁶⁷ Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁷ MASTL Facilitates Mitotic Progression ⁶⁷ Small interfering RNA (siRNA) biogenesis ⁶⁷ Transcriptional regulation by small RNAs ⁶⁷	11.88	BANF1 EMD LEMD3 LMNA
5	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.61	EMD LMNA
6	Initiation of Nuclear Envelope Reformation ⁶⁷ Show member pathways Clearance of Nuclear Envelope Membranes from Chromatin ⁶⁷ Nuclear Envelope Reassembly ⁶⁷	10.44	BANF1 EMD LEMD3 LMNA

Sources

GO Terms for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Cellular components related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear inner membrane	GO:0005637	9.16	EMD LEMD3
2	nuclear membrane	GO:0031965	9.13	EMD LEMD3 LMNA
3	nuclear envelope	GO:0005635	8.8	BANF1 EMD LMNA

Biological processes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle organ development	GO:0007517	9.32	EMD MYOD1
2	skeletal muscle cell differentiation	GO:0035914	9.26	EMD MYOD1
3	nucleus organization	GO:0006997	9.16	LEMD3 LMNA
4	nuclear envelope organization	GO:0006998	8.96	LEMD3 LMNA
5	mitotic nuclear envelope reassembly	GO:0007084	8.8	BANF1 EMD LMNA

Sources

Sources for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EDMD1)

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Related Diseases for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Publications for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Genes for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Genes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked (1 elite genes):

Variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 1, X-Linked:

Expression for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Pathways for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Pathways related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

GO Terms for Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Cellular components related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

Biological processes related to Emery-Dreifuss Muscular Dystrophy 1, X-Linked according to GeneCards Suite gene sharing:

Sources for Emery-Dreifuss Muscular Dystrophy 1, X-Linked