Vici Syndrome (VICIS)

Alias:
Absent Corpus Callosum Cataract Immunodeficiency
Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome
Dionisi-Vici-Sabetta-Gambarara Syndrome
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation, and Absent Corpus Callosum
Vicis
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation and Absent Corpus Callosum
Immunodeficiency with Cleft Lip/palate Cataract Hypopigmentation and Absent Corpus Callosum
Dionisi Vici Sabetta Gambarara Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Vici Syndrome, also known as absent corpus callosum cataract immunodeficiency, is related to amyotrophic lateral sclerosis 1 and dilution, pigmentary, and has symptoms including seizures An important gene associated with Vici Syndrome is EPG5 (Ectopic P-Granules 5 Autophagy Tethering Factor), and among its related pathways/superpathways are Autophagy pathway and Selective autophagy. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and agenesis of corpus callosum
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
27
168
26

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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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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