EDMD
MCID: MYP019
MIFTS: 45

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

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Myopathy with Postural Muscle Atrophy, X-Linked

About this section


OMIM:46 X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood.... (300696) more...

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, gait disturbance and reduced tendon reflexes. 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 Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart, and related mouse phenotypes are muscle and vision/eye.

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

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

About this section
Sources:
48Orphanet, 61UMLS, 21GeneTests, 23GTR, 46OMIM, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Myopathy with Postural Muscle Atrophy, X-Linked 21 23
X-Linked Emery-Dreifuss Muscular Dystrophy 48 61
Edmd1 48 61
Myopathy, X-Linked, with Postural Muscle Atrophy 46
X-Linked Myopathy with Postural Muscle Atrophy 48
 
Muscular Dystrophy, Emery-Dreifuss 61
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 Orphanet27 G71.0
UMLS via Orphanet62 C0410189, C0751337

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

About this section

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 dystrophy32.6EMD, LMNA
2muscular dystrophy32.4EMD, LMNA
3emery-dreifuss muscular dystrophy 2, ad31.5LMNA, EMD
4limb-girdle muscular dystrophy31.2LMNA, EMD
5lipodystrophy31.1LMNA, EMD
6dilated cardiomyopathy31.1LMNA, EMD
7myopathy30.7FHL1, EMD, LMNA
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 panels10.1EMD, LMNA
34neuromuscular disease10.0LMNA, EMD
35noonan syndrome10.0LMNA, EMD
36neuropathy9.9LMNA, EMD
37congenital heart disease9.8EMD, LMNA

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

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Myopathy with Postural Muscle Atrophy, X-Linked21 FHL1
2 X-Linked Myopathy with Postural Muscle Atrophy23

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

About this section

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

About this section

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8SYNE1, LMNA, EMD
2MP:00053918.6FHL1, SYNE1, LMNA
3MP:00053858.3EMD, LMNA, SYNE1, FHL1
4MP:00053867.5FHL1, SYNE1, LMNA, TMEM43, EMD

Publications for Myopathy with Postural Muscle Atrophy, X-Linked

About this section

Variations for Myopathy with Postural Muscle Atrophy, X-Linked

About this section

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

63
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605

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

7 (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

About this section
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

About this section

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
9.3LMNA, SYNE1
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.3EMD, LMNA
3
Show member pathways
9.3LMNA, EMD
4
Show member pathways
9.3LMNA, EMD
5
Show member pathways
9.3LMNA, EMD
69.3LMNA, EMD
7
Show member pathways
8.8SYNE1, LMNA, EMD

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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nuclear membraneGO:0319659.4SYNE1, EMD
2nuclear outer membraneGO:0056409.3SYNE1, EMD
3nuclear inner membraneGO:0056378.8TMEM43, EMD
4nuclear envelopeGO:0056358.8SYNE1, LMNA, 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:0055157.5FHL1, SYNE1, LMNA, TMEM43, EMD

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myopathy with Postural Muscle Atrophy, X-Linked

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet