Facioscapulohumeral Muscular Dystrophy 2, Digenic (FSHD2)

Alias:
Facioscapulohumeral Muscular Dystrophy 2
Fshd2
Facioscapulohumeral Muscular Dystrophy 1b
Fshd1b
Fascioscapulohumeral Muscular Dystrophy 2, Digenic
Muscular Dystrophy, Facioscapulohumeral, Type 1b
Dystrophy, Muscular, Facioscapulohumeral, Type 2
Muscular Dystrophy, Facioscapulohumeral, Type 2
Digenic Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy Type 1b
Facioscapulohumeral Muscular Dystrophy Type 2
Fshd2, Digenic
Digenic Fshd2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Facioscapulohumeral Muscular Dystrophy 2, Digenic, also known as facioscapulohumeral muscular dystrophy 2, is related to muscular dystrophy and facioscapulohumeral muscular dystrophy 1. An important gene associated with Facioscapulohumeral Muscular Dystrophy 2, Digenic is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1), and among its related pathways/superpathways are Pre-implantation embryo and Pathophysiological roles of DUX4 in FSHD1. The drugs Benzocaine and Creatine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and lung, and related phenotypes are scapular winging and foot dorsiflexor weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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20
71
22

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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

References Literature

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