Branchiootic Syndrome 1 (BOS1)

Alias:
Anterior Segment Anomalies with or Without Cataract
Bo Syndrome 1
Bos1
Branchiootic Syndrome, Type 1
Branchio-Otic Dysplasia 1
Branchio-Otic Syndrome 1
Branchiootic Dysplasia
Asa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Branchiootic Syndrome 1, also known as anterior segment anomalies with or without cataract, is related to branchiootic syndrome and branchiootorenal syndrome. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are Markers of kidney cell lineage and Development of ureteric collection system. Affiliated tissues include eye and lung, and related phenotypes are microtia and sensorineural hearing impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
28
18

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
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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