MCID: MSC095
MIFTS: 24

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2r 51 11 67
Lgmd2r 11 53 69
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 11 53
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 11 53
Limb-Girdle Muscular Dystrophy 2r 69 26

Characteristics:

Orphanet epidemiological data:

53
lgmd2r:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

63
muscular dystrophy, limb-girdle, type 2r:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM51 615325
Disease Ontology11 DOID:0110286
ICD1029 G71.0
Orphanet53 ORPHA363543
ICD10 via Orphanet30 G71.0
MeSH38 D049288

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

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UniProtKB/Swiss-Prot:69 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 lgmd2r, 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).

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the DES gene on chromosome 2q35.

Description from OMIM:51 615325

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

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

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Symptoms by clinical synopsis from OMIM:

615325

Clinical features from OMIM:

615325

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

 63
id Description HPO Frequency HPO Source Accession
1 elbow flexion contracture63 HP:0002987
2 muscular dystrophy63 HP:0003560
3 scapular winging63 HP:0003691
4 facial palsy63 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 2r26

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.373A> T (p.Lys125Ter)SNVPathogenicrs886043000GRCh37Chr 2, 220283557: 220283557
2DESNM_001927.3(DES): c.1289-2A> GSNVPathogenicrs398122940GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet