Amyotrophy, Monomelic

Alias:
Monomelic Amyotrophy
Juvenile Muscular Atrophy of the Distal Upper Limb
Hirayama Disease
Juvenile Muscular Atrophy of Distal Upper Extremity
Benign Focal Amyotrophy
Jmadue
Spinal Muscular Atrophy, Juvenile, Nonprogressive
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amyotrophy, Monomelic, also known as monomelic amyotrophy, is related to o'sullivan-mcleod syndrome and muscular atrophy. An important gene associated with Amyotrophy, Monomelic is CEP126 (Centrosomal Protein 126). The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are muscle weakness and emg abnormality
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Adolescent
--
4
19
12

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