MCID: MSC095
MIFTS: 23

Muscular Dystrophy, Limb-Girdle, Type 2r malady

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

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

About this section

Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2r:

Name: Muscular Dystrophy, Limb-Girdle, Type 2r 50 66
Limb-Girdle Muscular Dystrophy 2r 68 25
Lgmd2r 52 68
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 52

Characteristics:

Orphanet epidemiological data:

52
lgmd2r:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

62
muscular dystrophy, limb-girdle, type 2r:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 615325
Orphanet52 ORPHA363543
ICD10 via Orphanet29 G71.0
MeSH37 D049288

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

About this section
UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2R: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2r, also known as limb-girdle muscular dystrophy 2r, is related to muscular dystrophy, limb-girdle, type 2a, and has symptoms including elbow flexion contracture, muscular dystrophy and scapular winging. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin).

Description from OMIM:50 615325

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

About this section

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2r

About this section

Symptoms by clinical synopsis from OMIM:

615325

Clinical features from OMIM:

615325

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2r:

id Description Frequency HPO Source Accession
1 elbow flexion contracture HP:0002987
2 muscular dystrophy HP:0003560
3 scapular winging HP:0003691
4 facial palsy HP:0010628

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2r

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

About this section

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2r:

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2r25

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

About this section

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2r or affiliated genes

About this section

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

About this section

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

About this section

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2r:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1289-2A> Gsingle nucleotide variantPathogenicrs398122940GRCh37Chr 2, 220290383: 220290383

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2r

About this section
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2r.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2r

About this section

GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2r

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet