MCID: MSC140
MIFTS: 21

Muscular Dystrophy, Limb-Girdle, Type 2x

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2x

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2x:

Name: Muscular Dystrophy, Limb-Girdle, Type 2x 57 12 75 6
Lgmd2x 57 12 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 12 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy-Cardiac Arrhythmia Syndrome 59
Limb-Girdle Muscular Dystrophy 2x 75

Characteristics:

OMIM:

57
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:

32
muscular dystrophy, limb-girdle, type 2x:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616812
Disease Ontology 12 DOID:0110290
Orphanet 59 ORPHA476084
MeSH 44 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2x

OMIM : 57 Limb-girdle muscular dystrophy type 2X is an autosomal recessive muscle disorder 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, Type 2x, is also known as lgmd2x. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2x is BVES (Blood Vessel Epicardial Substance). Affiliated tissues include skeletal muscle, and related phenotypes are syncope and sinus bradycardia

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the BVES gene on chromosome 6q21.

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2X: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2x

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2x

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiac arrhythmias
second-degree atrioventricular block
syncopal episodes

Laboratory Abnormalities:
increased serum creatine kinase

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

Clinical features from OMIM:

616812

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2x:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sinus bradycardia 32 HP:0001688
3 elevated serum creatine phosphokinase 32 HP:0003236
4 limb-girdle muscle weakness 32 HP:0003325
5 muscular dystrophy 32 HP:0003560
6 centrally nucleated skeletal muscle fibers 32 HP:0003687
7 limb muscle weakness 32 HP:0003690
8 loss of ability to walk 32 HP:0006957

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2x

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2x

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2x

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2x

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2x:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2x

Variations for Muscular Dystrophy, Limb-Girdle, Type 2x

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2x:

75
# Symbol AA change Variation ID SNP ID
1 BVES p.Ser201Phe VAR_075625 rs869025337

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2x:

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

Expression for Muscular Dystrophy, Limb-Girdle, Type 2x

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2x.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2x

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2x

Sources for Muscular Dystrophy, Limb-Girdle, Type 2x

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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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