Muscular Dystrophy-Dystroglycanopathy , Type C, 15 (MDDGC15)

Alias:
Congenital Disorder of Glycosylation, Type Io
Cdg1o
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related
Congenital Disorder of Glycosylation Type Io
Mddgc15
Cdg Io
Cdg-Io
Cdgio
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C15
Carbohydrate Deficient Glycoprotein Syndrome Type Io
Dystrophy, Muscular, Dystroglycanopathy , Type C15
Congenital Disorder of Glycosylation Type 1o
Dpm3-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 1o
Cdg Syndrome Type Io
Dpm3-Cdg
Cdg1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy-Dystroglycanopathy , Type C, 15, also known as congenital disorder of glycosylation, type io, is related to granulomatous disease, chronic, autosomal recessive, 1 and congenital disorder of glycosylation, type in. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 15 is DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory). Affiliated tissues include brain and liver, and related phenotypes are decreased sialylation of o-linked protein glycosylation and muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
2
6

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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