ORPHA:1493
Vici syndrome
Synonyms: Corpus callosum agenesis-cataract-immunodeficiency syndrome · Dionisi-Vici-Sabetta-Gambarara syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vici syndrome | Corpus callosum agenesis-cataract-immunodeficiency syndrome · Dionisi-Vici-Sabetta-Gambarara syndrome |
| fr | Syndrome de Vici | Syndrome d'immunodéficience-cataracte-agénésie du corps calleux · Syndrome de Vici-Sabetta-Gambarara |
| de | Vici-Syndrom | Corpus callosum-Agenesie-Katarakt-Immunfdefekt-Syndrom · Dionisis-Vici-Sabetta-Gambarara-Syndrom |
| es | Síndrome de Vici | Síndrome de Dionisi-Vici-Sabetta-Gambarara · Síndrome de agenesia de cuerpo calloso-catarata-inmunodeficiencia |
| it | Sindrome di Vici | Sindrome di Dionisi Vici-Sabetta-Gambarara |
| nl | Syndroom van Vici | Agenesie van corpus callosum - cataract - immuundeficiëntie-syndroom · Syndroom van Dionisi-Vici-Sabetta-Gambarara |
| pt | Síndrome Vici | Síndrome Dionisi-Vici-Sabetta-Gambarara · Síndrome de agenesia do corpo caloso-catarata-imunodeficiência |
| pl | Zespół Viciego | Zespół Dionisi, Viciego, Sabetta i Gambarara |
| cs | Viciho syndrom | Dionisi Viciho-Sabettaův-Gambararové syndrom · Dionisi-Vici-Sabetta-Gambararové syndrom |
| uk | Синдром Вічі | Синдром агенезії мозолистого тіла - катаракта-імунодефіцит · Синдром Діонізі-Вікі-Сабетта-Гамбарара |
| zh | Vici综合征 | 胼胝体发育不全-白内障-免疫缺陷综合征 |
| tr | Vici sendromu | Dionisi-Vici-Sabetta-Gambarara sendromu · Korpus kallozum agenezisi-katarakt-immün yetmezlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242840 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0009452 | E | validated | |
| MeSH | C535566 | E | validated | |
| UMLS | C1855772 | E | validated | |
| GARD | 448 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (14):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPG5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29331 | ENSG00000152223 | 615068 | 18q12.3-q21.1 | ectopic P-granules 5 autophagy tethering factor | 23222957[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 26917586[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26917586[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001638 | Cardiomyopathy | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0001522 | Death in infancy | |
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004322 | Short stature | |
| HP:0005999 | Ureteral atresia | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000437 | Depressed nasal tip | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000218 | High palate | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0008348 | Decreased circulating IgG2 level | |
| HP:0011968 | Feeding difficulties | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000316 | Hypertelorism | |
| HP:0000601 | Hypotelorism | |
| HP:0001387 | Joint stiffness | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1493
- This record as JSON: /data/d/1493.json