Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2X (DOID:0110290)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
atrial fibrillation +   
Atrial Flutter 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
autosomal recessive limb-girdle muscular dystrophy 23  
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 2E  
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 2I  
autosomal recessive limb-girdle muscular dystrophy type 2J  
autosomal recessive limb-girdle muscular dystrophy type 2K  
autosomal recessive limb-girdle muscular dystrophy type 2L  
autosomal recessive limb-girdle muscular dystrophy type 2M  
autosomal recessive limb-girdle muscular dystrophy type 2N  
autosomal recessive limb-girdle muscular dystrophy type 2O  
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive limb-girdle muscular dystrophy type 2Q  
autosomal recessive limb-girdle muscular dystrophy type 2S  
autosomal recessive limb-girdle muscular dystrophy type 2T  
autosomal recessive limb-girdle muscular dystrophy type 2U  
autosomal recessive limb-girdle muscular dystrophy type 2W  
autosomal recessive limb-girdle muscular dystrophy type 2X  
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. LGMD2X is caused by homozygous mutation in the BVES gene on chromosome 6q21. (OMIM)
autosomal recessive limb-girdle muscular dystrophy type 2Y  
Bradycardia +   
Brugada syndrome +   
Cardiac Arrhythmia, Ankyrin-B-Related  
Cardiac Complexes, Premature +   
Cardiac Conduction Defect, Nonprogressive  
Cardiac Conduction Disease with or without Dilated Cardiomyopathy  
chronic atrial and intestinal dysrhythmia  
Commotio Cordis 
Heart Block +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA  
long QT syndrome +   
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION  
myofibrillar myopathy 1  
Parasystole 
Pre-Excitation Syndromes +   
QT Interval, Variation In 
short QT syndrome +   
Simpson-Golabi-Behmel syndrome type 1  
Sinus Arrhythmia +   
Tachycardia +   
Ventricular Fibrillation +   
Ventricular Flutter 
Woodhouse Sakati Syndrome  

Synonyms
Exact Synonyms: CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE ;   CARICK ;   LGMD2X ;   LGMDR25 ;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 ;   muscular dystrophy, limb-girdle, type 2X
Primary IDs: OMIM:616812
Alternate IDs: RDO:9001160
Xrefs: ORDO:476084
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/26642364

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.