Muscular Dystrophy-Dystroglycanopathy , Type C, 3 (MDDGC3)

Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o
Mddgc3
Lgmd2o
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
Lgmdr15
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
Muscular Dystrophy-Dystroglycanopathy Type C3
Dystrophy, Muscular, Limb-Girdle, Type 2o
Muscular Dystrophy, Limb-Girdle, Type 2o
Limb-Girdle Muscular Dystrophy Type 2o
Pomgnt1-Related Lgmd R15
Lgmd Type 2o
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type C, 3, also known as autosomal recessive limb-girdle muscular dystrophy type 2o, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including fatigue An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include skeletal muscle and eye, and related phenotypes are motor delay and hyperlordosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
18
90
46

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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