EDMD3
MCID: EMR020
MIFTS: 29

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 57 12 75 29 6
Edmd3 57 12 59 75
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 59 73
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive 40
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive 75
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3 12
Emery-Dreifuss Muscular Dystrophy 3 73

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive emery-dreifuss muscular dystrophy
Inheritance: Autosomal recessive;

OMIM:

57
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:

32
emery-dreifuss muscular dystrophy 3, autosomal recessive:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include bone, and related phenotypes are pectus excavatum and obesity

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

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 gait disturbance 59 32 Frequent (79-30%) HP:0001288
5 sudden cardiac death 59 32 frequent (33%) Frequent (79-30%) HP:0001645
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
11 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
12 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
13 hypertriglyceridemia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002155
14 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
15 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
16 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785
17 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
18 achilles tendon contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001771
19 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
20 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
21 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
22 back pain 59 32 frequent (33%) Frequent (79-30%) HP:0003418
23 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
24 rimmed vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003805
25 decreased cervical spine flexion due to contractures of posterior cervical muscles 59 32 frequent (33%) Frequent (79-30%) HP:0004631
26 proximal upper limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008948
27 proximal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008956
28 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
29 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
30 type 1 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0011807
31 absent muscle fiber emerin 59 32 frequent (33%) Frequent (79-30%) HP:0030117
32 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
33 supraventricular arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0005115
34 lipodystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009125
35 ventricular escape rhythm 59 32 frequent (33%) Frequent (79-30%) HP:0005155
36 hyporeflexia of lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0002600
37 intellectual disability 59 Excluded (0%)
38 muscle weakness 32 HP:0001324
39 myopathy 59 Very frequent (99-80%)
40 arrhythmia 32 HP:0011675
41 increased circulating low-density lipoprotein levels 59 Frequent (79-30%)
42 emg: myopathic abnormalities 59 Frequent (79-30%)
43 muscular dystrophy 32 HP:0003560
44 emg 32 frequent (33%) HP:0003458
45 increased ldl cholesterol concentration 32 occasional (7.5%) HP:0003141

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 29 LMNA

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

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

41
Bone

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:

75
# 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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