EDMD
MCID: MYP019
MIFTS: 44

Myopathy with Postural Muscle Atrophy, X-Linked (EDMD) malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Myopathy with Postural Muscle Atrophy, X-Linked

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MalaCards based summary: Myopathy with Postural Muscle Atrophy, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and muscular dystrophy, and has symptoms including pectus excavatum, lordosis and abnormal gait. An important gene associated with Myopathy with Postural Muscle Atrophy, X-Linked is FHL1 (four and a half LIM domains 1), and among its related pathways are Meiosis and Regulation of Glucokinase by Glucokinase Regulatory Protein. Affiliated tissues include heart, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Descriptions from OMIM:46 300696, 310300, 612998, 612999, 614302 181350 more

Aliases & Classifications for Myopathy with Postural Muscle Atrophy, X-Linked

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Sources:
48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Myopathy with Postural Muscle Atrophy, X-Linked, Aliases & Descriptions:

Name: Myopathy with Postural Muscle Atrophy, X-Linked 20 22
X-Linked Emery-Dreifuss Muscular Dystrophy 48 62
Edmd1 48 62
Myopathy, X-Linked, with Postural Muscle Atrophy 46
X-Linked Myopathy with Postural Muscle Atrophy 48
 
Muscular Dystrophy, Emery-Dreifuss 62
Emery-Dreifuss Muscular Dystrophy 48
Emerinopathy 48
Edmd 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
emery-dreifuss muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Adult
x-linked myopathy with postural muscle atrophy:
Inheritance: X-linked recessive; Prevalence: <1/1000000
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive


External Ids:

MESH via Orphanet35 D020389
ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C0410189, C0751337

Related Diseases for Myopathy with Postural Muscle Atrophy, X-Linked

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Diseases related to Myopathy with Postural Muscle Atrophy, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy32.6LMNA, EMD
2muscular dystrophy32.4LMNA, EMD
3emery-dreifuss muscular dystrophy 2, ad31.5LMNA, EMD
4limb-girdle muscular dystrophy31.2LMNA, EMD
5lipodystrophy31.1LMNA, EMD
6dilated cardiomyopathy31.1EMD, LMNA
7myopathy30.8FHL1, LMNA, EMD
8emery-dreifuss muscular dystrophy, x-linked10.9
9emery-dreifuss muscular dystrophy, dominant type10.8
10emery-dreifuss muscular dystrophy 1, x-linked10.8
11syne1-related emery-dreifuss muscular dystrophy10.6
12syne2-related emery-dreifuss muscular dystrophy10.6
13lmna-related emery-dreifuss muscular dystrophy, autosomal10.6
14emd-related emery-dreifuss muscular dystrophy, x-linked10.6
15fhl1-related emery-dreifuss muscular dystrophy, x-linked10.6
16emery-dreifuss muscular dystrophy 3, ar10.6
17emery-dreifuss muscular dystrophy 7, ad10.6
18emery-dreifuss muscular dystrophy 4, autosomal dominant10.6
19emery-dreifuss muscular dystrophy 5, autosomal dominant10.6
20emery-dreifuss muscular dystrophy 6, x-linked10.6
21dyskeratosis congenita10.5
22inclusion body myositis10.5
23congenital myasthenic syndrome10.5
24atrioventricular block10.5
25myositis10.5
26limb-girdle muscular dystrophy, type 1b10.5
27myh7-related scapuloperoneal myopathy10.5
28rigid spine syndrome10.5
29cardiac conduction defect10.5
30emerinopathy10.4
31familial partial lipodystrophy10.1LMNA, EMD
32progeria10.1EMD, LMNA
33sudden cardiac death multi-gene panels10.1LMNA, EMD
34neuromuscular disease10.0LMNA, EMD
35noonan syndrome10.0LMNA, EMD
36neuropathy9.9LMNA, EMD
37congenital heart disease9.8LMNA, EMD

Graphical network of the top 20 diseases related to Myopathy with Postural Muscle Atrophy, X-Linked:



Diseases related to myopathy with postural muscle atrophy, x-linked

Symptoms for Myopathy with Postural Muscle Atrophy, X-Linked

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Symptoms by clinical synopsis from OMIM:

300696

Clinical features from OMIM:

300696,310300,612998,612999,614302,181350

Symptoms:

48 (show all 21)
  • pectus excavatum
  • lordosis
  • abnormal gait
  • areflexia/hyporeflexia
  • myopathy
  • myotonia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • x-linked recessive inheritance
  • ptosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cardiomyopathy/hypertrophic/dilated
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • scoliosis
  • ichthyosis/ichthyosiform dermatitis
  • hypotonia
  • generalized obesity
  • stillbirth/neonatal death

HPO human phenotypes related to Myopathy with Postural Muscle Atrophy, X-Linked:

(show all 32)
id Description Frequency HPO Source Accession
1 pectus excavatum hallmark (90%) HP:0000767
2 gait disturbance hallmark (90%) HP:0001288
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 limitation of joint mobility hallmark (90%) HP:0001376
5 myotonia hallmark (90%) HP:0002486
6 myopathy hallmark (90%) HP:0003198
7 hyperlordosis hallmark (90%) HP:0003307
8 emg abnormality hallmark (90%) HP:0003457
9 ptosis typical (50%) HP:0000508
10 sprengel anomaly typical (50%) HP:0000912
11 hypertrophic cardiomyopathy typical (50%) HP:0001639
12 arrhythmia typical (50%) HP:0011675
13 cognitive impairment typical (50%) HP:0100543
14 muscular hypotonia occasional (7.5%) HP:0001252
15 obesity occasional (7.5%) HP:0001513
16 scoliosis occasional (7.5%) HP:0002650
17 kyphosis occasional (7.5%) HP:0002808
18 ichthyosis occasional (7.5%) HP:0008064
19 short neck HP:0000470
20 flexion contracture HP:0001371
21 x-linked recessive inheritance HP:0001419
22 hypertrophic cardiomyopathy HP:0001639
23 respiratory insufficiency HP:0002093
24 elevated serum creatine phosphokinase HP:0003236
25 spinal rigidity HP:0003306
26 back pain HP:0003418
27 progressive disorder HP:0003676
28 scapular winging HP:0003691
29 proximal muscle weakness HP:0003701
30 scapuloperoneal weakness HP:0003704
31 rimmed vacuoles HP:0003805
32 arrhythmia HP:0011675

Drugs & Therapeutics for Myopathy with Postural Muscle Atrophy, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Myopathy with Postural Muscle Atrophy, X-Linked

Search NIH Clinical Center for Myopathy with Postural Muscle Atrophy, X-Linked

Genetic Tests for Myopathy with Postural Muscle Atrophy, X-Linked

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Genetic tests related to Myopathy with Postural Muscle Atrophy, X-Linked:

id Genetic test Affiliating Genes
1 Myopathy with Postural Muscle Atrophy, X-Linked20 FHL1
2 X-Linked Myopathy with Postural Muscle Atrophy22

Anatomical Context for Myopathy with Postural Muscle Atrophy, X-Linked

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MalaCards organs/tissues related to Myopathy with Postural Muscle Atrophy, X-Linked:

32
Heart

Animal Models for Myopathy with Postural Muscle Atrophy, X-Linked or affiliated genes

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MGI Mouse Phenotypes related to Myopathy with Postural Muscle Atrophy, X-Linked:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5FHL1, SYNE1, LMNA, EMD
2MP:00053866.8FHL1, EMD, TMEM43, LMNA, ETHE1, SYNE1

Publications for Myopathy with Postural Muscle Atrophy, X-Linked

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Variations for Myopathy with Postural Muscle Atrophy, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy with Postural Muscle Atrophy, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605

Clinvar genetic disease variations for Myopathy with Postural Muscle Atrophy, X-Linked:

6 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic
3FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1FHL1, IVS4DS, G-A, +1single nucleotide variantPathogenic
5LMNANM_005572.3(LMNA): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs61046466GRCh37Chr 1, 156084725: 156084725
6LMNANM_005572.3(LMNA): c.1357C> T (p.Arg453Trp)single nucleotide variantPathogenicrs58932704GRCh37Chr 1, 156106204: 156106204
7LMNANM_005572.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
8LMNANM_005572.3(LMNA): c.1589T> C (p.Leu530Pro)single nucleotide variantPathogenicrs60934003GRCh37Chr 1, 156107004: 156107004
9LMNANM_005572.3(LMNA): c.959delT (p.Arg321Glufs)deletionPathogenicrs56771886GRCh37Chr 1, 156105714: 156105714
10LMNANM_005572.3(LMNA): c.664C> T (p.His222Tyr)single nucleotide variantPathogenicrs28928901GRCh37Chr 1, 156104620: 156104620
11LMNANM_005572.3(LMNA): c.398G> C (p.Arg133Pro)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
12LMNANM_005572.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
13NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met)single nucleotide variantPathogenicrs36215895GRCh37Chr 14, 64676751: 64676751
14SYNE1NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His)single nucleotide variantPathogenicrs119103246GRCh37Chr 6, 152473122: 152473122
15SYNE1NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys)single nucleotide variantPathogenicrs119103248GRCh37Chr 6, 152461162: 152461162
16SYNE1SYNE1, IVS136AS, A-G, -2single nucleotide variantPathogenic
17TMEM43NM_024334.2(TMEM43): c.253G> A (p.Glu85Lys)single nucleotide variantPathogenicrs397514044GRCh37Chr 3, 14172412: 14172412
18TMEM43NM_024334.2(TMEM43): c.271A> G (p.Ile91Val)single nucleotide variantPathogenicrs144811578GRCh37Chr 3, 14172430: 14172430
19LMNANM_005572.3(LMNA): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs199474724GRCh37Chr 1, 156104630: 156104630

Expression for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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Expression patterns in normal tissues for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

Search GEO for disease gene expression data for Myopathy with Postural Muscle Atrophy, X-Linked.

Pathways for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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Pathways related to Myopathy with Postural Muscle Atrophy, X-Linked according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4SYNE1, LMNA
2
Show member pathways
9.3EMD, LMNA
3
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.3LMNA, EMD
4
Show member pathways
9.3LMNA, EMD
5
Show member pathways
9.3LMNA, EMD
6
Show member pathways
8.9SYNE1, LMNA, EMD

Compounds for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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GO Terms for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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Cellular components related to Myopathy with Postural Muscle Atrophy, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear membraneGO:0319659.5SYNE1, EMD
2nuclear outer membraneGO:0056409.4SYNE1, EMD
3nuclear envelopeGO:0056358.9SYNE1, LMNA, EMD
4nuclear inner membraneGO:0056378.8TMEM43, EMD

Biological processes related to Myopathy with Postural Muscle Atrophy, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:0070779.3LMNA, EMD
2mitotic nuclear envelope reassemblyGO:0070849.0LMNA, EMD
3muscle organ developmentGO:0075178.8FHL1, LMNA, EMD

Molecular functions related to Myopathy with Postural Muscle Atrophy, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.6FHL1, SYNE1, LMNA, TMEM43, EMD

Products for genes affiliated with Myopathy with Postural Muscle Atrophy, X-Linked

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Sources for Myopathy with Postural Muscle Atrophy, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet