EDMD4
MCID: EMR014
MIFTS: 22

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 58 12 76 30 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 58 12 76
Edmd4 58 12 76
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 41
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12
Emery-Dreifuss Muscular Dystrophy 4 74
Emd4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

33
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Onset and clinical course phenotypic variability childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070249
OMIM 58 612998
MeSH 45 D020389
MedGen 43 C2751807
UMLS 74 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Emery-Dreifuss muscular dystrophy 4, autosomal dominant: 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 4, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 4 with variable features, is related to spinocerebellar ataxia, autosomal recessive 8. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Related phenotypes are proximal muscle weakness and muscular dystrophy

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.

Description from OMIM: 612998

Related Diseases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 9.6 SYNE1 SYNE1-AS1

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 33 HP:0003701
2 muscular dystrophy 33 HP:0003560
3 neck muscle weakness 33 HP:0000467
4 proximal amyotrophy 33 HP:0007126
5 elevated serum creatine kinase 33 HP:0003236
6 ventricular septal hypertrophy 33 HP:0005144

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
neck muscle weakness
neck muscle atrophy

Muscle Soft Tissue:
muscle biopsy shows dystrophic pattern
muscle weakness and atrophy, proximal

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
ventricular and septal hypertrophy
mild diastolic dysfunction

Clinical features from OMIM:

612998

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 30 SYNE1

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 SYNE1 p.Arg8095His VAR_062974 rs119103246
2 SYNE1 p.Val8387Leu VAR_062975 rs119103247
3 SYNE1 p.Glu8461Lys VAR_062976 rs119103248

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

6 (show top 50) (show all 930)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 NM_033071.3(SYNE1): c.883G> A (p.Ala295Thr) single nucleotide variant Uncertain significance rs770907182 GRCh37 Chromosome 6, 152823794: 152823794
2 SYNE1 NM_033071.3(SYNE1): c.883G> A (p.Ala295Thr) single nucleotide variant Uncertain significance rs770907182 GRCh38 Chromosome 6, 152502659: 152502659
3 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh37 Chromosome 6, 152570360: 152570360
4 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh38 Chromosome 6, 152249225: 152249225
5 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
6 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
7 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Benign/Likely benign rs146366996 GRCh37 Chromosome 6, 152806014: 152806014
8 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Benign/Likely benign rs146366996 GRCh38 Chromosome 6, 152484879: 152484879
9 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh37 Chromosome 6, 152472789: 152472789
10 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh38 Chromosome 6, 152151654: 152151654
11 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh37 Chromosome 6, 152469204: 152469204
12 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh38 Chromosome 6, 152148069: 152148069
13 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh37 Chromosome 6, 152469329: 152469329
14 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh38 Chromosome 6, 152148194: 152148194
15 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh37 Chromosome 6, 152469433: 152469433
16 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh38 Chromosome 6, 152148298: 152148298
17 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh37 Chromosome 6, 152457795: 152457795
18 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh38 Chromosome 6, 152136660: 152136660
19 SYNE1 NM_033071.3(SYNE1): c.25642A> G (p.Met8548Val) single nucleotide variant Uncertain significance rs746864807 GRCh37 Chromosome 6, 152456241: 152456241
20 SYNE1 NM_033071.3(SYNE1): c.25642A> G (p.Met8548Val) single nucleotide variant Uncertain significance rs746864807 GRCh38 Chromosome 6, 152135106: 152135106
21 SYNE1 NM_033071.3(SYNE1): c.25607A> C (p.Asp8536Ala) single nucleotide variant Uncertain significance rs41291047 GRCh37 Chromosome 6, 152456276: 152456276
22 SYNE1 NM_033071.3(SYNE1): c.25607A> C (p.Asp8536Ala) single nucleotide variant Uncertain significance rs41291047 GRCh38 Chromosome 6, 152135141: 152135141
23 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh37 Chromosome 6, 152786447: 152786447
24 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh38 Chromosome 6, 152465312: 152465312
25 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh37 Chromosome 6, 152784602: 152784602
26 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh38 Chromosome 6, 152463467: 152463467
27 SYNE1 NM_033071.3(SYNE1): c.23C> T (p.Ser8Phe) single nucleotide variant Uncertain significance rs139600654 GRCh37 Chromosome 6, 152949444: 152949444
28 SYNE1 NM_033071.3(SYNE1): c.23C> T (p.Ser8Phe) single nucleotide variant Uncertain significance rs139600654 GRCh38 Chromosome 6, 152628309: 152628309
29 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh37 Chromosome 6, 152776571: 152776571
30 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh38 Chromosome 6, 152455436: 152455436
31 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh37 Chromosome 6, 152772294: 152772294
32 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh38 Chromosome 6, 152451159: 152451159
33 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh37 Chromosome 6, 152771967: 152771967
34 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh38 Chromosome 6, 152450832: 152450832
35 SYNE1 NM_033071.3(SYNE1): c.3557A> C (p.Glu1186Ala) single nucleotide variant Uncertain significance rs117461489 GRCh37 Chromosome 6, 152768726: 152768726
36 SYNE1 NM_033071.3(SYNE1): c.3557A> C (p.Glu1186Ala) single nucleotide variant Uncertain significance rs117461489 GRCh38 Chromosome 6, 152447591: 152447591
37 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh38 Chromosome 6, 152441172: 152441172
38 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh37 Chromosome 6, 152762307: 152762307
39 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh37 Chromosome 6, 152749494: 152749494
40 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh38 Chromosome 6, 152428359: 152428359
41 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh37 Chromosome 6, 152746654: 152746654
42 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh38 Chromosome 6, 152425519: 152425519
43 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh37 Chromosome 6, 152746682: 152746682
44 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh38 Chromosome 6, 152425547: 152425547
45 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh37 Chromosome 6, 152737573: 152737573
46 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh38 Chromosome 6, 152416438: 152416438
47 SYNE1 NM_033071.3(SYNE1): c.6955T> C (p.Phe2319Leu) single nucleotide variant Likely benign rs138004884 GRCh37 Chromosome 6, 152722368: 152722368
48 SYNE1 NM_033071.3(SYNE1): c.6955T> C (p.Phe2319Leu) single nucleotide variant Likely benign rs138004884 GRCh38 Chromosome 6, 152401233: 152401233
49 SYNE1 NM_033071.3(SYNE1): c.7668C> T (p.His2556=) single nucleotide variant Conflicting interpretations of pathogenicity rs113163375 GRCh37 Chromosome 6, 152716716: 152716716
50 SYNE1 NM_033071.3(SYNE1): c.7668C> T (p.His2556=) single nucleotide variant Conflicting interpretations of pathogenicity rs113163375 GRCh38 Chromosome 6, 152395581: 152395581

Expression for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

GO Terms for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 ESR1 SYNE1

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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