Arthrogryposis Multiplex Congenita 3, Myogenic Type (AMC3)

Alias:
Arthrogryposis Multiplex Congenita, Myogenic Type
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Amc3
Amcm
Syne1-Related Arthrogryposis Multiplex Congenita
Autosomal Recessive Myogenic Amc
Syne1-Related Amc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis Multiplex Congenita 3, Myogenic Type, also known as arthrogryposis multiplex congenita, myogenic type, is related to rheumatoid arthritis and keratitis, hereditary. An important gene associated with Arthrogryposis Multiplex Congenita 3, Myogenic Type is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include skeletal muscle and lung, and related phenotypes are motor delay and decreased fetal movement
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
55
6

Medical Symptom

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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

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PMID
Journal
Year
IF
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