Vici syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: VICIS
Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Corpus callosum agenesis-cataract-immunodeficiency
Dionisi-Vici-Sabetta-Gambarara syndrome
Number of Symptoms 87
OrphanetNr: 1493
OMIM Id: 242840
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases - PMID: 26927810 [IBIS]
Inheritance: Autosomal recessive
- PMID: 26927810 [IBIS]
Age of onset: Antenatal
Neonatal
- PMID: 26927810 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Genetic hypopigmentation of the skin
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Comment:

Vici syndrome is a severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, a combined immunodeficiency and additional, more variable multisystem involvement. The condition is due to recessive mutations in the EPG5 gene on chromosome 18q (PMID:26927810).

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 23091746 IBIS 250 / 7739
2
 (HPO:0003244) Penile hypospadias 23091746 IBIS 4 / 7739
3
 (HPO:0000124) Renal tubular dysfunction Frequent [Orphanet] 17163544 IBIS 46 / 7739
4
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 26927810 IBIS 644 / 7739
5
 (HPO:0000347) Micrognathia 20583151 IBIS 426 / 7739
6
 (HPO:0000252) Microcephaly Frequent [IBIS] 26927810 IBIS 832 / 7739
7
 (HPO:0000175) Cleft palate 20583151 IBIS 349 / 7739
8
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 25331754 IBIS 83 / 7739
9
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 20583151 IBIS 394 / 7739
10
 (HPO:0000204) Cleft upper lip 26927810 IBIS 193 / 7739
11
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 26927810 IBIS 308 / 7739
12
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 26927810 IBIS 266 / 7739
13
 (HPO:0001107) Ocular albinism 26927810 IBIS 40 / 7739
14
 (HPO:0007894) Hypopigmentation of the fundus Very frequent [IBIS] 26927810 IBIS 14 / 7739
15
 (HPO:0000639) Nystagmus Frequent [Orphanet] 26927810 IBIS 555 / 7739
16
 (HPO:0000519) Congenital cataract Very frequent [IBIS] 26927810 IBIS 73 / 7739
17
 (HPO:0008059) Aplasia/Hypoplasia of the macula Occasional [Orphanet] 25331754 IBIS 21 / 7739
18
 (HPO:0000518) Cataract Very frequent [IBIS] 26927810 IBIS 454 / 7739
19
 (HPO:0008625) Severe sensorineural hearing impairment 20186778 IBIS 150 / 7739
20
 (HPO:0008527) Congenital sensorineural hearing impairment 20186778 IBIS 165 / 7739
21
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] rare [HPO:skoehler] 26927810 IBIS 524 / 7739
22
 (HPO:0000369) Low-set ears 21964879 IBIS 372 / 7739
23
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 17163544 IBIS 113 / 7739
24
 (HPO:0002533) Abnormal posturing 11932994 IBIS 6 / 7739
25
 (HPO:0001250) Seizures Frequent [Orphanet] 26927810 IBIS 1245 / 7739
26
 (HPO:0001270) Motor delay 23674064 IBIS 322 / 7739
27
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 26927810 IBIS 188 / 7739
28
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 25331754 IBIS 853 / 7739
29
 (HPO:0011344) Severe global developmental delay 21964879 IBIS 46 / 7739
30
 (HPO:0004322) Short stature Very frequent [Orphanet] 23091746 IBIS 1232 / 7739
31
 (HPO:0001508) Failure to thrive Very frequent [IBIS] 21965116 IBIS 454 / 7739
32
 (HPO:0001510) Growth delay 23674064 IBIS 295 / 7739
33
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 23091746 IBIS 492 / 7739
34
 (HPO:0001022) Albinism 26927810 IBIS 43 / 7739
35
 (HPO:0005599) Hypopigmentation of hair Very frequent [IBIS] 26927810 IBIS 38 / 7739
36
 (HPO:0002728) Chronic mucocutaneous candidiasis 26927810 IBIS 14 / 7739
37
 (HPO:0001010) Hypopigmentation of the skin Very frequent [IBIS] 26927810 IBIS 46 / 7739
38
 (HPO:0001635) Congestive heart failure 26927810 IBIS 232 / 7739
39
 (HPO:0001639) Hypertrophic cardiomyopathy Very frequent [IBIS] 26927810 IBIS 137 / 7739
40
 (HPO:0001644) Dilated cardiomyopathy Frequent [IBIS] 26927810 IBIS 141 / 7739
41
 (HPO:0001638) Cardiomyopathy Very frequent [IBIS] 26927810 IBIS 192 / 7739
42
 (HPO:0001712) Left ventricular hypertrophy Very frequent [IBIS] 26927810 IBIS 76 / 7739
43
 (HPO:0004315) IgG deficiency 3344762 IBIS 38 / 7739
44
 (HPO:0005407) Decreased number of CD4+ T cells 26482670 IBIS 6 / 7739
45
 (HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 21965116 IBIS 49 / 7739
46
 (HPO:0002965) Cutaneous anergy 3344762 IBIS 7 / 7739
47
 (HPO:0008348) Immunoglobulin IgG2 deficiency 3344762 IBIS 5 / 7739
48
 (HPO:0005419) Decreased T cell activation 21964879 IBIS 4 / 7739
49
 (HPO:0004313) Decreased antibody level in blood 21965116 IBIS 47 / 7739
50
 (HPO:0001941) Acidosis 26927810 IBIS 9 / 7739
51
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 26927810 IBIS 254 / 7739
52
 (HPO:0002718) Recurrent bacterial infections 23674064 IBIS 75 / 7739
53
 (HPO:0000777) Abnormality of the thymus 3344762 IBIS 9 / 7739
54
 (HPO:0002841) Recurrent fungal infections 23674064 IBIS 16 / 7739
55
 (HPO:0010978) Abnormality of immune system physiology Very frequent [IBIS] 21964879 IBIS 148 / 7739
56
 (HPO:0004429) Recurrent viral infections 23674064 IBIS 20 / 7739
57
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 26927810 IBIS 20 / 7739
58
 (HPO:0010547) Muscle flaccidity 21965116 IBIS 466 / 7739
59
 (HPO:0008947) Infantile muscular hypotonia 21965116 IBIS 482 / 7739
60
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 21965116 IBIS 990 / 7739
61
 (HPO:0001324) Muscle weakness 21965116 IBIS 859 / 7739
62
 (HPO:0003198) Myopathy 21965116 IBIS 151 / 7739
63
 (OMIM) Bilateral schizencephaly 23222957 IBIS 1 / 7739
64
 (OMIM) Variation in fiber size 20186778 IBIS 8 / 7739
65
 (OMIM) Cutaneous albinism 10405446 IBIS 1 / 7739
66
 (OMIM) Normal IgM levels 20583151 IBIS 1 / 7739
67
 (MedDRA:10071436) Systolic dysfunction 20583151 IBIS 13 / 7739
68
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 23091746 IBIS 72 / 7739
69
 (OMIM) Numerous vacuole-like areas 23222957 IBIS 1 / 7739
70
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 3344762 IBIS 137 / 7739
71
 (OMIM) Internal nuclei 20583151 IBIS 9 / 7739
72
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 26927810 IBIS 180 / 7739
73
 (OMIM) Abnormal mitochondria 26927810 IBIS 1 / 7739
74
 (HPO:0007314) White matter neuronal heterotopia 26927810 IBIS 1 / 7739
75
 (OMIM) Redundancy of basal lamina with accumulated debris 20186778 IBIS 1 / 7739
76
 (HPO:0001320) Cerebellar vermis hypoplasia 26917586 IBIS 57 / 7739
77
 (HPO:0010636) Schizencephaly 23222957 IBIS 5 / 7739
78
 (OMIM) Normal IgA levels 20583151 IBIS 1 / 7739
79
 (HPO:0001274) Agenesis of corpus callosum Very frequent [IBIS] 26927810 IBIS 142 / 7739
80
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 26917586 IBIS 949 / 7739
81
 (OMIM) Post natal growth retardation 10405446 IBIS 1 / 7739
82
 (OMIM) Reduced IgG levels, particularly IgG2 subclass 3344762 IBIS 1 / 7739
83
 (OMIM) Recurrent respiratory tract infections 3344762 IBIS 3 / 7739
84
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 26927810 IBIS 187 / 7739
85
 (OMIM) Defective humoral response 21965116 IBIS 1 / 7739
86
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 26927810 IBIS 187 / 7739
87
 (OMIM) Skin anergy to recall antigens 3344762 IBIS 1 / 7739

Associated genes:

EPG5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by ...
Clinical Description OMIM Dionisi Vici et al. (1988) described 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The sibs suffered from severe psychomotor retardation, seizures, ...
Molecular genetics OMIM In 16 patients from 13 unrelated families with Vici syndrome, Cullup et al. (2013) identified homozygous or compound heterozygous mutations in the EPG5 gene (see, e.g., 615068.0001-615068.0005). Nine of the patients had previously been reported, including the 2 ...