Muscular Dystrophy, Congenital Merosin-Deficient, 1a (MDC1A)

Alias:
Mdc1a
Congenital Merosin-Deficient Muscular Dystrophy 1a
Muscular Dystrophy Congenital, Merosin Negative
Muscular Dystrophy, Congenital Merosin-Deficient
Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy, Congenital, Merosin Deficient or Partially Deficient
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency
Dystrophy, Muscular, Congential, Merosin Deficient, Type 1a
Merosin-Deficient Congenital Muscular Dystrophy 1a
Merosin-Negative Congenital Muscular Dystrophy
Cardiomyopathy, Familial Idiopathic
Cmd1a
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital Merosin-Deficient, 1a, also known as mdc1a, is related to lama2-related muscular dystrophy and muscular dystrophy, congenital, lmna-related. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient, 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways are Extracellular matrix organization and Diseases of glycosylation. Affiliated tissues include brain and skeletal muscle, and related phenotypes are intellectual disability and ophthalmoplegia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
35
316
62

Medical Symptom

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

Gene & Mutation

#
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top