Vici syndrome
Information
- Disease name
- Vici syndrome
- Disease ID
- DOID:0060356
- Description
- "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3." [url:https\://en.wikipedia.org/wiki/Vici_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21965116, url:https\://www.ncbi.nlm.nih.gov/pubmed/23222957]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| EPG5 | 18 | 45,847,609 | 45,967,329 | 50 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:448
- Cross Reference ID (Disease Ontology)
- MESH:C535566
- Cross Reference ID (Disease Ontology)
- MIM:242840
- Cross Reference ID (Disease Ontology)
- NCI:C138174
- Cross Reference ID (Disease Ontology)
- ORDO:1493
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:719824001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1855772
- Exact Synonym (Disease Ontology)
- immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- OrphaNumber from OrphaNet (Orphanet)
- 1493