LGMDR25
MCID: MSC191
MIFTS: 26

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72
Muscular Dystrophy, Limb-Girdle, Type 2x 57 72 29 6
Lgmd2x 57 58 72
Cardiac Arrhythmia with Increased Serum Creatine Kinase 57 72
Limb-Girdle Muscular Dystrophy 2x 58 72
Lgmdr25 57 72
Carick 57 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome 58
Cardiac Arrhythmia with Increased Serum Creatine Kinase; Carick 57
Muscular Dystrophy, Limb-Girdle, Type 2x; Lgmd2x 57
Bves-Related Limb-Girdle Muscular Dystrophy 58
Bves-Related Lgmd 58
Lgmd Type 2x 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range 12 to 59 years)
some patients have only cardiac arrhythmia


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 25:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


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

OMIM® : 57 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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 25: An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise.

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2x 11.5
2 atrioventricular block 9.9
3 autosomal recessive limb-girdle muscular dystrophy 9.9
4 muscular dystrophy 9.9
5 limb-girdle muscular dystrophy 9.9

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 difficulty walking 31 very rare (1%) HP:0002355
2 skeletal muscle atrophy 31 HP:0003202
3 elevated serum creatine kinase 31 HP:0003236
4 atrioventricular block 31 HP:0001678
5 myalgia 31 HP:0003326
6 muscular dystrophy 31 HP:0003560
7 syncope 31 HP:0001279
8 limb muscle weakness 31 HP:0003690
9 loss of ability to walk 31 HP:0006957
10 proximal muscle weakness 31 HP:0003701
11 palpitations 31 HP:0001962
12 sinus bradycardia 31 HP:0001688
13 exercise intolerance 31 HP:0003546
14 centrally nucleated skeletal muscle fibers 31 HP:0003687
15 limb-girdle muscle weakness 31 HP:0003325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
myalgia
exercise intolerance
muscle atrophy
increased internal nuclei seen on muscle biopsy
muscular dystrophy (in some patients)
more
Laboratory Abnormalities:
increased serum creatine kinase

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

Clinical features from OMIM®:

616812 (Updated 20-May-2021)

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

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

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 29 BVES

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

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

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 6 57
26642364 2016
2
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. 57
31119192 2019
3
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES. 61
32684383 2020

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BVES NM_001199563.2(BVES):c.602C>T (p.Ser201Phe) SNV Pathogenic 222033 rs869025337 GRCh37: 6:105572468-105572468
GRCh38: 6:105124593-105124593
2 BVES NM_001199563.2(BVES):c.816+2T>C SNV Pathogenic 626313 rs1562133291 GRCh37: 6:105564574-105564574
GRCh38: 6:105116699-105116699
3 BVES NM_001199563.2(BVES):c.1A>G (p.Met1Val) SNV Pathogenic 626315 rs1332603843 GRCh37: 6:105581452-105581452
GRCh38: 6:105133577-105133577
4 BVES NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) SNV Pathogenic 626314 rs796206315 GRCh37: 6:105577343-105577343
GRCh38: 6:105129468-105129468
5 BVES NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) SNV Uncertain significance 624258 rs1562137622 GRCh37: 6:105573348-105573348
GRCh38: 6:105125473-105125473

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

72
# Symbol AA change Variation ID SNP ID
1 BVES p.Ser201Phe VAR_075625 rs869025337

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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