Marshall Syndrome (MRSHS)

Alias:
Mrshs
Deafness, Myopia, Cataract, Saddle Nose-Marshall Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Marshall Syndrome, also known as mrshs, is related to sensorineural hearing loss and stickler syndrome, type i. An important gene associated with Marshall Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include eye and bone, and related phenotypes are cataract and depressed nasal bridge
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Infant
<1/1000000
18
91
19

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

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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
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IF
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