Ivic Syndrome (IVIC)

Alias:
Oculootoradial Syndrome
Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia
Oculo-Oto-Radial Syndrome
Ivic
Instituto Venezolano De Investigaciones Cientificas Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ivic Syndrome, also known as oculootoradial syndrome, is related to onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, and has symptoms including ophthalmoplegia An important gene associated with Ivic Syndrome is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include bone and eye, and related phenotypes are hearing impairment and joint stiffness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
10
66
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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