LGMD2R
MCID: MSC095
MIFTS: 30

Muscular Dystrophy, Limb-Girdle, Type 2r (LGMD2R) 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
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 11 54 13
Lgmd2r 11 54 70
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 11 54
Limb-Girdle Muscular Dystrophy 2r 70 27

Characteristics:

Orphanet epidemiological data:

54
autosomal recessive limb-girdle muscular dystrophy type 2r:
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 autosomal recessive limb-girdle muscular dystrophy type 2r, is related to muscular dystrophy, limb-girdle, type 2a and chronic atrial and intestinal dysrhythmia, 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). Related mouse phenotype Decreased HIV-1 infection.

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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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 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2chronic atrial and intestinal dysrhythmia9.9HNRNPDL, TNPO3
3mandibuloacral dysplasia9.9HNRNPDL, TNPO3
4nephronophthisis 2, infantile9.9HNRNPDL, TRAPPC11
5osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures9.8HNRNPDL, TNPO3
6dentinogenesis imperfecta, shields type iii9.8HNRNPDL, TNPO3, TRAPPC11
7cornelia de lange syndrome 49.8HNRNPDL, TNPO3, TRAPPC11
8hypospadias 3, autosomal9.7HNRNPDL, TNPO3, TRAPPC11
9hypertrophic cardiomyopathy 219.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
10muscular dystrophy-dystroglycanopathy , type b, 149.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
11rheumatoid arthritis, systemic juvenile9.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
12muscular dystrophy-dystroglycanopathy , type a, 99.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
13orofacial cleft 139.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
14epileptic encephalopathy, early infantile, 49.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
15dementia, frontotemporal9.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
16spinal muscular atrophy, distal, autosomal recessive, 59.3DES, GMPPB, HNRNPDL, TNPO3, TRAPPC11
17short-rib thoracic dysplasia 8 with or without polydactyly9.3DES, GMPPB, HNRNPDL, TNPO3, TRAPPC11

Graphical network of diseases related to Muscular Dystrophy, Limb-Girdle, Type 2r:



Diseases related to muscular dystrophy, limb-girdle, type 2r

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

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2r according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00226-A9.3HNRNPDL, TNPO3

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search 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