MCID: MSC095
MIFTS: 23

Muscular Dystrophy, Limb-Girdle, Type 2r malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases categories

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2r 49 24
Limb-Girdle Muscular Dystrophy 2r 67
 
Lgmd2r 67


Classifications:



External Ids:

OMIM49 615325
MeSH36 D049288

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

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UniProtKB/Swiss-Prot:67 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 autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency, and has symptoms including autosomal recessive inheritance, elbow flexion contracture and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin).

Description from OMIM:49 615325

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

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j muscular dystrophy, limb-girdle, type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2r via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.1
2autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency10.1

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

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Symptoms by clinical synopsis from OMIM:

615325

Clinical features from OMIM:

615325

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

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elbow flexion contracture HP:0002987
3 muscular dystrophy HP:0003560
4 progressive HP:0003676
5 scapular winging HP:0003691
6 facial palsy HP:0010628

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2r24

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

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

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

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

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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

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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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet