Uruguay Faciocardiomusculoskeletal Syndrome (FCMSU)

Alias:
Faciocardiomusculoskeletal Syndrome, Uruguay Type
Fcmsu
Fcms
Musculoskeletal Diseases
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Uruguay Faciocardiomusculoskeletal Syndrome, also known as faciocardiomusculoskeletal syndrome, uruguay type, is related to foix-chavany-marie syndrome and myopathy, myofibrillar, 1, and has symptoms including arthralgia, back pain and neck pain. An important gene associated with Uruguay Faciocardiomusculoskeletal Syndrome is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways is Neural crest differentiation. The drugs Rebamipide and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are everted lower lip vermilion and hallux valgus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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8
85
2

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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