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 52 11 68
Lgmd2r 11 54 70
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 11 54
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 11 54
Limb-Girdle Muscular Dystrophy 2r 70 27

Characteristics:

Orphanet epidemiological data:

54
lgmd2r:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
muscular dystrophy, limb-girdle, type 2r:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 615325
Disease Ontology11 DOID:0110286
ICD1030 G71.0
Orphanet54 ORPHA363543
ICD10 via Orphanet31 G71.0
MeSH39 D049288

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

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UniProtKB/Swiss-Prot:70 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:52 615325

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

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Symptoms & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 elbow flexion contracture64 HP:0002987
2 muscular dystrophy64 HP:0003560
3 scapular winging64 HP:0003691
4 facial palsy64 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 2r27

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

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet