Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Alias:
Fibrosis of Extraocular Muscles, Congenital, 3b
Congenital Fibrosis of Extraocular Muscles Type 1
Congenital Fibrosis of the Extraocular Muscles 1
Blepharoptosis with Absent Eye Movements
Cfeom1
Fibrosis, Extraocular Muscles, Congenital, Type 1
Congenital Fibrosis of the Extraocular Muscles
Ophthalmoplegia, Congenital
Congenital Ophthalmoplegia
Feom1 Locus
Fibrosis
Cfeom3b
Feom1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibrosis of Extraocular Muscles, Congenital, 1, also known as fibrosis of extraocular muscles, congenital, 3b, is related to fibrosis of extraocular muscles, congenital, 2 and moebius syndrome, and has symptoms including cachexia, cyanosis and dyspnea. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Amoxicillin and Magnesium oxide have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and kyphosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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8
55
23

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

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Name
MGI
Related Gene
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Publications
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References Literature

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IF
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