MCID: EMR014
MIFTS: 20

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular 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 57 75 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 57 75
Edmd4 57 75
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 40
Emery-Dreifuss Muscular Dystrophy 4 73
Emd4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

32
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability childhood onset


Classifications:



External Ids:

OMIM 57 612998
MedGen 42 C2751807
MeSH 44 D020389
UMLS 73 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 neck muscle weakness and elevated serum creatine phosphokinase

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 9.0 SYNE1 SYNE1-AS1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
neck muscle weakness
neck muscle atrophy

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

Cardiovascular Heart:
ventricular and septal hypertrophy
mild diastolic dysfunction

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

612998

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 neck muscle weakness 32 HP:0000467
2 elevated serum creatine phosphokinase 32 HP:0003236
3 muscular dystrophy 32 HP:0003560
4 proximal muscle weakness 32 HP:0003701
5 left ventricular septal hypertrophy 32 HP:0005144
6 proximal amyotrophy 32 HP:0007126

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 29 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:

75
# 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 675)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh37 Chromosome 6, 152473122: 152473122
2 SYNE1 NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His) single nucleotide variant Pathogenic rs119103246 GRCh38 Chromosome 6, 152151987: 152151987
3 SYNE1 SYNE1, IVS136AS, A-G, -2 single nucleotide variant Pathogenic
4 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh37 Chromosome 6, 152570360: 152570360
5 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh38 Chromosome 6, 152249225: 152249225
6 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Likely benign rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
7 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Likely benign rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
8 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Likely benign rs146366996 GRCh37 Chromosome 6, 152806014: 152806014
9 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Likely benign rs146366996 GRCh38 Chromosome 6, 152484879: 152484879
10 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh37 Chromosome 6, 152472789: 152472789
11 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh38 Chromosome 6, 152151654: 152151654
12 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh37 Chromosome 6, 152469204: 152469204
13 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh38 Chromosome 6, 152148069: 152148069
14 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh37 Chromosome 6, 152469329: 152469329
15 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh38 Chromosome 6, 152148194: 152148194
16 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh37 Chromosome 6, 152469433: 152469433
17 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh38 Chromosome 6, 152148298: 152148298
18 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh37 Chromosome 6, 152457795: 152457795
19 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh38 Chromosome 6, 152136660: 152136660
20 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh37 Chromosome 6, 152786447: 152786447
21 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh38 Chromosome 6, 152465312: 152465312
22 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh37 Chromosome 6, 152784602: 152784602
23 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh38 Chromosome 6, 152463467: 152463467
24 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh37 Chromosome 6, 152776571: 152776571
25 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh38 Chromosome 6, 152455436: 152455436
26 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh37 Chromosome 6, 152772294: 152772294
27 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh38 Chromosome 6, 152451159: 152451159
28 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh37 Chromosome 6, 152771967: 152771967
29 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh38 Chromosome 6, 152450832: 152450832
30 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh37 Chromosome 6, 152762307: 152762307
31 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh38 Chromosome 6, 152441172: 152441172
32 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh37 Chromosome 6, 152749494: 152749494
33 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh38 Chromosome 6, 152428359: 152428359
34 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh37 Chromosome 6, 152746654: 152746654
35 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh38 Chromosome 6, 152425519: 152425519
36 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh37 Chromosome 6, 152746682: 152746682
37 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh38 Chromosome 6, 152425547: 152425547
38 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh37 Chromosome 6, 152737573: 152737573
39 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh38 Chromosome 6, 152416438: 152416438
40 SYNE1 NM_033071.3(SYNE1): c.6955T> C (p.Phe2319Leu) single nucleotide variant Likely benign rs138004884 GRCh37 Chromosome 6, 152722368: 152722368
41 SYNE1 NM_033071.3(SYNE1): c.6955T> C (p.Phe2319Leu) single nucleotide variant Likely benign rs138004884 GRCh38 Chromosome 6, 152401233: 152401233
42 SYNE1 NM_033071.3(SYNE1): c.7668C> T (p.His2556=) single nucleotide variant Conflicting interpretations of pathogenicity rs113163375 GRCh37 Chromosome 6, 152716716: 152716716
43 SYNE1 NM_033071.3(SYNE1): c.7668C> T (p.His2556=) single nucleotide variant Conflicting interpretations of pathogenicity rs113163375 GRCh38 Chromosome 6, 152395581: 152395581
44 SYNE1 NM_033071.3(SYNE1): c.7997C> A (p.Thr2666Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs117480635 GRCh37 Chromosome 6, 152712440: 152712440
45 SYNE1 NM_033071.3(SYNE1): c.7997C> A (p.Thr2666Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs117480635 GRCh38 Chromosome 6, 152391305: 152391305
46 SYNE1 NM_033071.3(SYNE1): c.8185G> A (p.Val2729Ile) single nucleotide variant Benign/Likely benign rs151091241 GRCh37 Chromosome 6, 152711428: 152711428
47 SYNE1 NM_033071.3(SYNE1): c.8185G> A (p.Val2729Ile) single nucleotide variant Benign/Likely benign rs151091241 GRCh38 Chromosome 6, 152390293: 152390293
48 SYNE1 NM_033071.3(SYNE1): c.9169C> G (p.Leu3057Val) single nucleotide variant Likely benign rs117360770 GRCh37 Chromosome 6, 152697692: 152697692
49 SYNE1 NM_033071.3(SYNE1): c.9169C> G (p.Leu3057Val) single nucleotide variant Likely benign rs117360770 GRCh38 Chromosome 6, 152376557: 152376557
50 SYNE1 NM_033071.3(SYNE1): c.10058C> A (p.Ser3353Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs150170988 GRCh37 Chromosome 6, 152686090: 152686090

Expression for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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Pathways for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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

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