MCID: MSC095
MIFTS: 17

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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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy, Limb-Girdle, Type 2r, also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency, is related to calpainopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (desmin).

Description from OMIM:48 615325

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

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

muscular dystrophy, limb-girdle, type 2r 48
autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency 50
autosomal recessive limb-girdle muscular dystrophy type 2r 50
lgmd2r 50


External Ids:

ICD10 via Orphanet27 G71.0
OMIM48 615325

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

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18GeneCards, 19GeneDecks
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Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2r

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48OMIM
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Symptoms by clinical synopsis from OMIM:

615325

Clinical features from OMIM:

615325

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet