MCID: MSC095
MIFTS: 18

Muscular Dystrophy, Limb-Girdle, Type 2r malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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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 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, 26ICD10 via Orphanet
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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 Orphanet26 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
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet