MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Parent Node:
expandautosomal recessive limb-girdle muscular dystrophy (MONDO:0015152)
Parent Node:
expandqualitative or quantitative defects of desmin (MONDO:0016187)
..Starting node
..expandautosomal recessive limb-girdle muscular dystrophy type 2R ()

       Child Nodes:



 Sister Nodes: 
..expandautosomal dominant limb-girdle muscular dystrophy type 1E (DES) ()
..expandautosomal recessive limb-girdle muscular dystrophy type 2R ()
..expandmyofibrillar myopathy 1 ()
..expandneurogenic scapuloperoneal syndrome, Kaeser type ()
..expandrigid spine syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:14129
Name:autosomal recessive limb-girdle muscular dystrophy type 2R
Definition:Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.
Alternative IDs:615325
ParentIDs:
TreeNumbers:
Synonyms:autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES; autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; DES autosomal recessive limb-girdle muscular dystrophy; LGMD2R; muscular dystrophy, limb-girdle, type 2R; muscular dystrophy, limb-girdle, type 2
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 615325;
MSeqDR LSDB:  
Genes: DES;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002987Elbow flexion contracture
3 HP:0010628Facial palsy
4 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
5 HP:0003676Progressive
6 HP:0003691Scapular winging
Disease Causing ClinVar Variants
MSeqDR Portal