LGMDR25
MCID: MSC191
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 (LGMDR25)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 58
Muscular Dystrophy, Limb-Girdle, Type 2x 58 76 30 6
Lgmd2x 58 60 76
Cardiac Arrhythmia with Increased Serum Creatine Kinase 58 76
Carick 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome 60
Cardiac Arrhythmia with Increased Serum Creatine Kinase; Carick 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 60
Muscular Dystrophy, Limb-Girdle, Type 2x; Lgmd2x 58
Limb-Girdle Muscular Dystrophy 2x 76
Muscular Dystrophies, Limb-Girdle 45
Dystrophy, Muscular, Limb-Girdle 41
Lgmdr25 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family with 3 affected individuals has been reported (last curated february 2016)
variable age at onset of arrhythmia (range 12 to 59 years)
onset of muscle weakness in late adulthood


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 25:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

OMIM : 58 Autosomal recessive limb-girdle muscular dystrophy-25 (LGMDR25) is characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life (summary by Schindler et al., 2016). For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMD2A (253600). (616812)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25, also known as muscular dystrophy, limb-girdle, type 2x, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 is BVES (Blood Vessel Epicardial Substance). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are atrioventricular block and proximal muscle weakness

UniProtKB/Swiss-Prot : 76 Cardiac arrhythmia with increased serum creatine kinase: An autosomal recessive disorder characterized by syncopal episodes and markedly increased serum creatine kinase, which can increase further after strenuous exercise. Some patients may develop late-onset proximal muscle weakness associated with dystrophic changes on muscle biopsy.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 13.0
2 muscular dystrophy, limb-girdle, autosomal recessive 1 12.9
3 muscular dystrophy, limb-girdle, autosomal dominant 1 12.9
4 muscular dystrophy, limb-girdle, autosomal dominant 2 12.8
5 muscular dystrophy, limb-girdle, autosomal recessive 8 12.8
6 muscular dystrophy, limb-girdle, autosomal recessive 6 12.8
7 muscular dystrophy, limb-girdle, autosomal recessive 7 12.8
8 muscular dystrophy, limb-girdle, autosomal recessive 3 12.8
9 muscular dystrophy, limb-girdle, autosomal recessive 10 12.8
10 muscular dystrophy, limb-girdle, autosomal recessive 12 12.8
11 muscular dystrophy, limb-girdle, autosomal recessive 17 12.8
12 muscular dystrophy, limb-girdle, autosomal recessive 5 12.8
13 muscular dystrophy, limb-girdle, autosomal recessive 4 12.8
14 muscular dystrophy, limb-girdle, autosomal dominant 3 12.8
15 muscular dystrophy, limb-girdle, autosomal recessive 21 12.8
16 muscular dystrophy, limb-girdle, autosomal dominant 4 12.8
17 muscular dystrophy, limb-girdle, autosomal recessive 18 12.8
18 muscular dystrophy, limb-girdle, autosomal recessive 23 12.7
19 muscular dystrophy, limb-girdle, type 1h 12.6
20 muscular dystrophy limb girdle type 2a, erb type 12.5
21 limb-girdle muscular dystrophy 12.2
22 emery-dreifuss muscular dystrophy 2, autosomal dominant 12.1
23 muscular dystrophy-dystroglycanopathy , type c, 5 11.9
24 myopathy, myofibrillar, 3 11.9
25 muscular dystrophy-dystroglycanopathy , type c, 1 11.9
26 muscular dystrophy-dystroglycanopathy , type c, 9 11.9
27 muscular dystrophy-dystroglycanopathy , type c, 14 11.9
28 muscular dystrophy-dystroglycanopathy , type c, 7 11.9
29 muscular dystrophy-dystroglycanopathy , type c, 4 11.8
30 myopathy, myofibrillar, 1 11.8
31 muscular dystrophy-dystroglycanopathy , type c, 3 11.8
32 muscular dystrophy-dystroglycanopathy , type c, 2 11.8
33 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.8
34 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.8
35 autosomal recessive limb-girdle muscular dystrophy type 2b 11.8
36 autosomal recessive limb-girdle muscular dystrophy type 2x 11.7
37 bethlem myopathy 1 11.7
38 ullrich congenital muscular dystrophy 1 11.7
39 rippling muscle disease 2 11.7
40 muscular dystrophy-dystroglycanopathy , type c, 8 11.7
41 autosomal recessive limb-girdle muscular dystrophy 11.6
42 limb-girdle muscular dystrophy type 1c 11.6
43 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 11.5
44 autosomal dominant limb-girdle muscular dystrophy 11.5
45 autosomal recessive limb-girdle muscular dystrophy type 2a 11.5
46 autosomal recessive limb-girdle muscular dystrophy type 2c 11.5
47 autosomal recessive limb-girdle muscular dystrophy type 2d 11.5
48 autosomal recessive limb-girdle muscular dystrophy type 2g 11.5
49 autosomal recessive limb-girdle muscular dystrophy type 2j 11.5
50 autosomal recessive limb-girdle muscular dystrophy type 2l 11.5

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 33 HP:0001678
2 proximal muscle weakness 33 HP:0003701
3 limb-girdle muscle weakness 33 HP:0003325
4 limb muscle weakness 33 HP:0003690
5 muscular dystrophy 33 HP:0003560
6 centrally nucleated skeletal muscle fibers 33 HP:0003687
7 syncope 33 HP:0001279
8 sinus bradycardia 33 HP:0001688
9 loss of ability to walk 33 HP:0006957
10 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
syncopal episodes
cardiac arrhythmias
second-degree atrioventricular block

Muscle Soft Tissue:
increased internal nuclei seen on muscle biopsy
muscular dystrophy (in 1 of 3 patients)
proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)
fiber type variation
plasma membrane discontinuities
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

616812

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Cochrane evidence based reviews: muscular dystrophies, limb-girdle

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2x 30 BVES

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

42
Skeletal Muscle, Tongue

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

# Title Authors Year
1
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. ( 26642364 )
2016

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

76
# Symbol AA change Variation ID SNP ID
1 BVES p.Ser201Phe VAR_075625 rs869025337

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BVES NM_001199563.1(BVES): c.602C> T (p.Ser201Phe) single nucleotide variant Pathogenic rs869025337 GRCh37 Chromosome 6, 105572468: 105572468
2 BVES NM_001199563.1(BVES): c.602C> T (p.Ser201Phe) single nucleotide variant Pathogenic rs869025337 GRCh38 Chromosome 6, 105124593: 105124593
3 BVES NM_001199563.2(BVES): c.816+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 6, 105564574: 105564574
4 BVES NM_001199563.2(BVES): c.816+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 6, 105116699: 105116699
5 BVES NM_001199563.2(BVES): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 105129468: 105129468
6 BVES NM_001199563.2(BVES): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 105577343: 105577343
7 BVES NM_001199563.2(BVES): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 105133577: 105133577
8 BVES NM_001199563.2(BVES): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 105581452: 105581452

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25

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