Duane-Radial Ray Syndrome (DRRS)

Alias:
Okihiro Syndrome
Drrs
Duane Anomaly with Radial Ray Abnormalities and Deafness
Dr Syndrome
Acro-Renal-Ocular Syndrome
Acrorenoocular Syndrome
Acrorenocular Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Duane-Radial Ray Syndrome, also known as okihiro syndrome, is related to ivic syndrome and duane retraction syndrome, and has symptoms including facial paresis An important gene associated with Duane-Radial Ray Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye and bone, and related phenotypes are horseshoe kidney and short thumb

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
18
134
25

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
No Data Found!
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