MCID: EMR020
MIFTS: 24

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular 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 75 29 6
Edmd3 57 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
Emery-Dreifuss Muscular Dystrophy 3, Ar 57
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


External Ids:

OMIM 57 616516
Orphanet 59 ORPHA98855
UMLS via Orphanet 74 C2750035 C1450051
MESH via Orphanet 45 D020389
ICD10 via Orphanet 34 G71.0
MeSH 44 D020389

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). Related phenotypes are gait disturbance and scoliosis

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 10.6
2 muscular dystrophy 10.6

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 32 HP:0001288
2 scoliosis 32 occasional (7.5%) HP:0002650
3 elevated serum creatine phosphokinase 32 HP:0003236
4 arrhythmia 32 HP:0011675
5 hypertriglyceridemia 32 occasional (7.5%) HP:0002155
6 muscular dystrophy 32 HP:0003560
7 elbow flexion contracture 32 HP:0002987
8 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

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
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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