EDMD3
MCID: EMR020
MIFTS: 27

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive (EDMD3)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

Name: Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 58 12 76 30 6
Edmd3 58 12 60 76
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 60 74
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive 41
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive 76
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3 12
Emery-Dreifuss Muscular Dystrophy 3 74

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive emery-dreifuss muscular dystrophy
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
variable age at onset, usually first or second decade
heterozygous mutation carriers may have late-onset cardiac arrhythmias
three unrelated families have been reported (last curated august 2015)


HPO:

33
emery-dreifuss muscular dystrophy 3, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Emery-Dreifuss muscular dystrophy 3, autosomal recessive: 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.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive, also known as edmd3, is related to emery-dreifuss muscular dystrophy and muscular dystrophy, and has symptoms including torticollis An important gene associated with Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive is LMNA (Lamin A/C). Related phenotypes are pectus excavatum and joint stiffness

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal recessive mutation of LMNA on chromosome 1q22.

OMIM : 58 Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012). For a discussion of genetic heterogeneity of EDMD, see 310300. (616516)

Related Diseases for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

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 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 10.7
2 muscular dystrophy 10.7

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486
4 limb-girdle muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006785
5 hyporeflexia of lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0002600
6 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
7 sudden cardiac death 60 33 frequent (33%) Frequent (79-30%) HP:0001645
8 atrioventricular block 60 33 frequent (33%) Frequent (79-30%) HP:0001678
9 hypertriglyceridemia 60 33 occasional (7.5%) Frequent (79-30%) HP:0002155
10 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
11 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
12 achilles tendon contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001771
13 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
14 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987
15 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
16 back pain 60 33 frequent (33%) Frequent (79-30%) HP:0003418
17 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
18 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
19 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
20 decreased cervical spine flexion due to contractures of posterior cervical muscles 60 33 frequent (33%) Frequent (79-30%) HP:0004631
21 proximal upper limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008948
22 proximal lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008956
23 proximal muscle weakness in lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008994
24 proximal muscle weakness in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008997
25 type 1 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0011807
26 absent muscle fiber emerin 60 33 frequent (33%) Frequent (79-30%) HP:0030117
27 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
28 supraventricular arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0005115
29 ventricular escape rhythm 60 33 frequent (33%) Frequent (79-30%) HP:0005155
30 increased ldl cholesterol concentration 33 occasional (7.5%) HP:0003141
31 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
32 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
33 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
34 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
35 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
36 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
37 lipodystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009125
38 gait disturbance 60 33 Frequent (79-30%) HP:0001288
39 intellectual disability 60 Excluded (0%)
40 muscle weakness 33 HP:0001324
41 myopathy 60 Very frequent (99-80%)
42 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
43 arrhythmia 33 HP:0011675
44 increased circulating low-density lipoprotein levels 60 Frequent (79-30%)
45 muscular dystrophy 33 HP:0003560

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis (in some patients)

Skeletal Limbs:
elbow contractures

Muscle Soft Tissue:
gait difficulties
muscle biopsy shows dystrophic changes
muscle weakness, proximal, upper and lower limbs
muscle atrophy, proximal, upper and lower limbs
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

Skeletal Feet:
heel cord contractures

Laboratory Abnormalities:
increased serum creatine kinase
increased triglycerides (1 family)
increased ldl cholesterol (1 family)

Cardiovascular Heart:
arrhythmias
premature supraventricular and ventricular contractions

Head And Neck Neck:
neck contractures

Neurologic Peripheral Nervous System:
loss of reflexes in the lower limbs

Clinical features from OMIM:

616516

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:


torticollis

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 30 LMNA

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Publications for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Articles related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

# Title Authors Year
1
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
2
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. ( 22431096 )
2012
3
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. ( 10739764 )
2000

Variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg225Gln VAR_067697 rs199474724
2 LMNA p.Thr24Ser VAR_076562

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
2 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
3 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh37 Chromosome 1, 156104620: 156104620
4 LMNA NM_005572.3(LMNA): c.664C> T (p.His222Tyr) single nucleotide variant Pathogenic rs28928901 GRCh38 Chromosome 1, 156134829: 156134829
5 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
6 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
7 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh37 Chromosome 1, 156104630: 156104630
8 LMNA NM_005572.3(LMNA): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs199474724 GRCh38 Chromosome 1, 156134839: 156134839
9 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
10 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
11 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
12 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
13 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
14 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027

Expression for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive.

Pathways for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

GO Terms for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Sources for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

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