Information on VICIS
Basic details
Name: Vici syndrome | Acronym: VICIS
Alt. names:
Gene: EPG5 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Surveillance for cardiomyopathy (eg, including echocardiogram) may allow early management; Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development. Refs. PMIDs: 20186778; 23222957; 27343256; 28168853
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Agenesis of corpus callosum |
27 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Global developmental delay |
27 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Skin hypopigmentation |
27 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypopigmentation of hair |
26 (96.3%) | 0 (0.0%) | 1 (3.7%) |
| 5 | Cataract |
22 (81.5%) | 0 (0.0%) | 5 (18.5%) |
| 6 | Hypopigmentation of the fundus |
18 (66.7%) | 0 (0.0%) | 9 (33.3%) |
| 7 | Muscular hypotonia |
17 (63.0%) | 0 (0.0%) | 10 (37.0%) |
| 8 | Microcephaly |
14 (51.9%) | 0 (0.0%) | 13 (48.2%) |
| 9 | Seizures |
13 (48.2%) | 0 (0.0%) | 14 (51.9%) |
| 10 | Postnatal growth retardation |
12 (44.4%) | 0 (0.0%) | 15 (55.6%) |
| 11 | High palate |
10 (37.0%) | 0 (0.0%) | 17 (63.0%) |
| 12 | Micrognathia |
10 (37.0%) | 0 (0.0%) | 17 (63.0%) |
| 13 | Nystagmus |
10 (37.0%) | 0 (0.0%) | 17 (63.0%) |
| 14 | Myopathy |
9 (33.3%) | 0 (0.0%) | 18 (66.7%) |
| 15 | Elevated circulating creatine kinase concentration |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Decreased IgG levels |
5 (18.5%) | 0 (0.0%) | 22 (81.5%) |
| 17 | Dysphagia |
4 (14.8%) | 0 (0.0%) | 23 (85.2%) |
| 18 | Median cleft palate |
4 (14.8%) | 0 (0.0%) | 23 (85.2%) |
| 19 | Median cleft lip |
4 (14.8%) | 0 (0.0%) | 23 (85.2%) |
| 20 | Leukopenia |
3 (11.1%) | 0 (0.0%) | 24 (88.9%) |
| 21 | Lymphopenia |
3 (11.1%) | 0 (0.0%) | 24 (88.9%) |
| 22 | Reduced T cell count |
3 (11.1%) | 0 (0.0%) | 24 (88.9%) |
| 23 | Atrial septal defect |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 24 | Depressed nasal bridge |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 25 | Hypertelorism |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 26 | Low-set ears |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 27 | Macular hypoplasia |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 28 | Ptosis |
2 (7.4%) | 0 (0.0%) | 25 (92.6%) |
| 29 | Epicanthus |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 30 | Everted upper lip vermilion |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 31 | Hypotelorism |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 32 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 33 | Long philtrum |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 34 | Macular atrophy |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 35 | Narrow forehead |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 36 | Neutropenia |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 37 | Prominent forehead |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 38 | Thick vermilion border |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 39 | Triangular face |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
| 40 | Wide nose |
1 (3.7%) | 0 (0.0%) | 26 (96.3%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.