MCID: MSC095
MIFTS: 19

Muscular Dystrophy, Limb-Girdle, Type 2r malady

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

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

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MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2r, also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency, is related to calpainopathy, and has symptoms including autosomal recessive inheritance, elbow flexion contracture and progressive disorder. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (desmin).

Description from OMIM:46 615325

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

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Sources:
46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2r 46
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 48
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 48
Lgmd2r 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 615325
ICD10 via Orphanet27 G71.0

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

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

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elbow flexion contracture HP:0002987
3 progressive disorder HP:0003676
4 scapular winging HP:0003691
5 facial palsy HP:0010628

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

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Drug clinical trials:

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

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

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

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

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2r

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

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  • Antibodies
  • Proteins
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  • Antibodies
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  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet