VICIS
MCID: VCS001
MIFTS: 57

Vici Syndrome (VICIS)

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vici Syndrome

MalaCards integrated aliases for Vici Syndrome:

Name: Vici Syndrome 57 12 20 43 58 73 36 29 13 6 15 39
Absent Corpus Callosum Cataract Immunodeficiency 20 43 44 71
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation, and Absent Corpus Callosum 57 12
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation and Absent Corpus Callosum 20 43
Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome 43 58
Dionisi Vici Sabetta Gambarara Syndrome 20 43
Dionisi-Vici-Sabetta-Gambarara Syndrome 43 58
Vicis 57 73
Immunodeficiency with Cleft Lip/palate Cataract Hypopigmentation and Absent Corpus Callosum 73

Characteristics:

Orphanet epidemiological data:

58
vici syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile,late childhood,stillbirth;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
early death often occurs from cardiac failure or infection
immunologic defects are variable


HPO:

31
vici syndrome:
Onset and clinical course death in infancy congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Vici Syndrome

MedlinePlus Genetics : 43 Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which the tissue that connects the left and right halves of the brain (the corpus callosum) fails to form normally during the early stages of development before birth. Other brain abnormalities can occur in Vici syndrome, including underdevelopment of a region of the brain known as the pons (pontine hypoplasia) and reduced myelin, which is a fatty substance that covers and protects nerve cells. In addition to problems with brain development, breakdown (degeneration) of brain tissue may occur over time, resulting in an unusually small head size (microcephaly).The brain problems contribute to profound developmental delay in individuals with Vici syndrome. Affected infants have weak muscle tone (hypotonia). Few are able to roll, and they may lose this skill when they get older. None are able to sit or walk. In addition, affected children cannot speak.Another characteristic feature of Vici syndrome is impaired immune function (immune deficiency), which leads to recurrent infections that can be life-threatening. Respiratory infections are most common, and gastrointestinal and urinary tract infections are frequent.A potentially life-threatening heart condition called cardiomyopathy is common in children with Vici syndrome. This condition, which worsens over time, makes it difficult for the heart to pump blood efficiently. Some affected children also have heart defects that are present from birth (congenital).Other key features of Vici syndrome include skin and hair that are lighter in color than that of family members and other people with the same ethnic background (hypopigmentation), and clouding of the lenses of the eyes (cataracts) or other eye abnormalities, which may reduce vision.Other, less-common signs and symptoms of Vici syndrome include seizures; hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss); an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) or other unusual facial features; and abnormal function of the thyroid, liver, or kidneys. Many affected infants grow and gain weight more slowly than expected.Due to the severity of the condition, most people with Vici syndrome do not survive beyond age 5.

MalaCards based summary : Vici Syndrome, also known as absent corpus callosum cataract immunodeficiency, is related to cataract and combined immunodeficiency, and has symptoms including seizures An important gene associated with Vici Syndrome is EPG5 (Ectopic P-Granules Autophagy Protein 5 Homolog), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Shigellosis. The drugs Durvalumab and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and agenesis of corpus callosum

Disease Ontology : 12 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.

GARD : 20 Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.

OMIM® : 57 Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012). (242840) (Updated 05-Mar-2021)

KEGG : 36 Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation. Profound developmental delay, progressive failure to thrive, and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver, and kidneys. A skeletal myopathy is consistently associated. Recent studies identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis.

UniProtKB/Swiss-Prot : 73 Vici syndrome: 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.

Wikipedia : 74 Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent... more...

Related Diseases for Vici Syndrome

Diseases related to Vici Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 cataract 10.6
2 combined immunodeficiency 10.4
3 microcephaly 10.3
4 myopathy 10.3
5 albinism 10.3
6 hypotonia 10.3
7 sensorineural hearing loss 10.2
8 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.2 RAB7B RAB7A
9 leukodystrophy, hypomyelinating, 12 10.2 RAB7B RAB7A
10 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
11 oculocutaneous albinism 10.2
12 neuropathy, hereditary sensory, type id 10.2 RAB7B RAB7A
13 charcot-marie-tooth disease, axonal, type 2l 10.2 RAB7B RAB7A
14 charcot-marie-tooth disease, dominant intermediate b 10.1 RAB7B RAB7A
15 alcohol-related neurodevelopmental disorder 10.1 WDR45 SNX14 EPG5
16 chediak-higashi syndrome 10.1
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 hereditary motor and sensory neuropathy, type iic 10.1 RAB7B RAB7A
19 charcot-marie-tooth disease, axonal, type 2b 10.1 RAB7B RAB7A
20 myopathy, x-linked, with excessive autophagy 10.1 EPG5 ATG5 ATG14
21 macular degeneration, age-related, 14 10.0 SQSTM1 ATG5
22 atrial standstill 1 10.0
23 laryngomalacia 10.0
24 thrombocytopenic purpura, autoimmune 10.0
25 corpus callosum, agenesis of 10.0
26 immune deficiency disease 10.0
27 autosomal recessive disease 10.0
28 purpura 10.0
29 cataract 8, multiple types 10.0 RAB7B RAB7A
30 spastic paraplegia 49, autosomal recessive 10.0 WDR45 TECPR2 SNX14 EPG5
31 neurodegeneration with brain iron accumulation 5 10.0 WDR45 TECPR2 SNX14 EPG5
32 neurodegeneration with brain iron accumulation 10.0 WDR45 TECPR2 SNX14 EPG5
33 charcot-marie-tooth disease, type 4j 9.9 RAB7B RAB7A
34 alzheimer disease 13 9.9 TECPR2 GABARAPL1
35 amyotrophic lateral sclerosis 1 9.9
36 optic nerve hypoplasia, bilateral 9.9
37 chromosome 2q35 duplication syndrome 9.9
38 mucolipidosis iv 9.9
39 retinitis pigmentosa 9.9
40 schizencephaly 9.9
41 severe cutaneous adverse reaction 9.9
42 alacrima, achalasia, and mental retardation syndrome 9.9
43 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
44 erythema multiforme 9.9
45 ocular albinism 9.9
46 sleep apnea 9.9
47 mucolipidosis 9.9
48 neuroretinitis 9.9
49 hypertrophic cardiomyopathy 9.9
50 dilated cardiomyopathy 9.9

Graphical network of the top 20 diseases related to Vici Syndrome:



Diseases related to Vici Syndrome

Symptoms & Phenotypes for Vici Syndrome

Human phenotypes related to Vici Syndrome:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
8 cellular immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005374
9 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
10 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
11 ureteral atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005999
12 hypotonia 31 hallmark (90%) HP:0001252
13 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
14 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
15 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
16 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
17 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
18 depressed nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000437
19 renal tubular acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001947
20 hypoplasia of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0012110
21 gray matter heterotopia 31 frequent (33%) HP:0002282
22 seizure 31 frequent (33%) HP:0001250
23 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
26 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
27 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
28 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
29 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
30 abnormal macular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001103
31 decreased circulating igg2 level 31 occasional (7.5%) HP:0008348
32 decreased circulating igg level 58 31 Occasional (29-5%) HP:0004315
33 seizures 58 Frequent (79-30%)
34 failure to thrive 31 HP:0001508
35 muscular hypotonia 58 Very frequent (99-80%)
36 microcephaly 31 HP:0000252
37 myopathy 31 HP:0003198
38 immunodeficiency 31 HP:0002721
39 cleft palate 31 HP:0000175
40 congestive heart failure 31 HP:0001635
41 growth delay 31 HP:0001510
42 micrognathia 31 HP:0000347
43 low-set ears 31 HP:0000369
44 dilated cardiomyopathy 31 HP:0001644
45 motor delay 31 HP:0001270
46 left ventricular hypertrophy 31 HP:0001712
47 hypopigmentation of hair 31 HP:0005599
48 cleft upper lip 31 HP:0000204
49 death in infancy 58 Very frequent (99-80%)
50 hypopigmentation of the fundus 31 HP:0007894

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
cerebellar vermis hypoplasia
white matter neuronal heterotopia
abnormal posturing
hypotonia
more
Head And Neck Eyes:
nystagmus
ocular albinism
bilateral cataracts
retinal hypopigmentation

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
micrognathia
cleft lip

Cardiovascular Heart:
left ventricular hypertrophy
heart failure
cardiomyopathy, dilated
systolic dysfunction

Immunology:
recurrent bacterial, viral, and fungal infections
thymic hypoplasia
skin anergy to recall antigens
profound depletion of t4+ lymphocytes
lack of delayed skin hypersensitivity reaction
more
Genitourinary External Genitalia Male:
hypospadias, penile

Skin Nails Hair Hair:
hair hypopigmentation

Growth Other:
failure to thrive
post natal growth retardation

Head And Neck Face:
hypertelorism

Muscle Soft Tissue:
myopathy
hypotonia
variation in fiber size
internal nuclei
abnormal mitochondria
more
Head And Neck Ears:
low-set ears
sensorineural hearing loss (in some patients)

Skin Nails Hair Skin:
chronic mucocutaneous candidiasis
skin hypopigmentation
cutaneous albinism

Respiratory Airways:
recurrent respiratory tract infections

Genitourinary Kidneys:
renal tubular acidosis (2 sibs)

Laboratory Abnormalities:
reduced igg levels, particularly igg2 subclass
normal iga levels
normal igm levels

Clinical features from OMIM®:

242840 (Updated 05-Mar-2021)

UMLS symptoms related to Vici Syndrome:


seizures

Drugs & Therapeutics for Vici Syndrome

Drugs for Vici Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Durvalumab Approved, Investigational Phase 2 1428935-60-7
2
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
3
Lenvatinib Approved, Investigational Phase 2 417716-92-8
4
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
5 Antineoplastic Agents, Immunological Phase 2
6 Protein Kinase Inhibitors Phase 2
7 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Open-label Trial Comparing Immune Checkpoint Therapy vs Target Therapy in Reducing Serum HBsAg Levels in Patients With HBeAg-positive Advanced Stage Hepatocellular Carcinoma (VICI-5) Recruiting NCT03899428 Phase 2 Durvalumab;Sorafenib;Lenvatinib;Regorafenib;Cabozantinib
2 VICIS - Vienna Cirrhosis Study Recruiting NCT03267615
3 VIRTUS Safety and Efficacy of the Veniti Vici™ Venous Stent System (Veniti, Inc.) When Used to Treat Clinically Significant Chronic Non-malignant Obstruction of the Iliofemoral Venous Segment Active, not recruiting NCT02112877

Search NIH Clinical Center for Vici Syndrome

Cochrane evidence based reviews: absent corpus callosum cataract immunodeficiency

Genetic Tests for Vici Syndrome

Genetic tests related to Vici Syndrome:

# Genetic test Affiliating Genes
1 Vici Syndrome 29 EPG5

Anatomical Context for Vici Syndrome

MalaCards organs/tissues related to Vici Syndrome:

40
Brain, Heart, Eye, Pons, Thymus, Liver, T Cells

Publications for Vici Syndrome

Articles related to Vici Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. 6 57 61
28168853 2017
2
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. 61 57 6
25331754 2014
3
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. 61 6 57
23222957 2013
4
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. 57 6
3344762 1988
5
Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. 61 57
25258354 2014
6
Role of Epg5 in selective neurodegeneration and Vici syndrome. 61 57
23674064 2013
7
Immunodeficiency in Vici syndrome: a heterogeneous phenotype. 57 61
21965116 2012
8
Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. 57 61
21964879 2012
9
Vici syndrome associated with unilateral lung hypoplasia and myopathy. 57 61
20583151 2010
10
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. 57 61
20186778 2010
11
Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. 57 61
17163544 2007
12
Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. 57 61
11932994 2002
13
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. 61 57
10405446 1999
14
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders. 61
33422100 2021
15
Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review. 61
33120733 2020
16
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. 61
31184778 2020
17
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. 61
32558422 2020
18
The RBG-1-RBG-2 complex modulates autophagy activity by regulating lysosomal biogenesis and function in C. elegans. 61
31444285 2019
19
The epg5 knockout zebrafish line: a model to study Vici syndrome. 61
30806141 2019
20
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. 61
31226715 2019
21
Vici Syndrome with a Novel Mutation in EPG5. 61
31333218 2019
22
Autophagosome maturation: An epic journey from the ER to lysosomes. 61
30578282 2019
23
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. 61
30152144 2018
24
Finding the Middle Ground for Autophagic Fusion Requirements. 61
30115558 2018
25
A rare mutation in the EPG5 gene causes Vici syndrome. 61
29944490 2018
26
A Saudi Infant with Vici Syndrome: Case Report and Literature Review. 61
29983806 2018
27
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. 61
29681093 2018
28
Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. 61
29227033 2018
29
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. 61
29112993 2018
30
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. 61
29159459 2018
31
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. 61
29130391 2018
32
Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration. 61
29174892 2017
33
Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice. 61
29021349 2017
34
Rapid Targeted Genomics in Critically Ill Newborns. 61
28939701 2017
35
Autopsy findings in EPG5-related Vici syndrome with antenatal onset. 61
28748650 2017
36
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature. 61
28624465 2017
37
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. 61
28615637 2017
38
Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa. 61
27715390 2016
39
The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes. 61
27588602 2016
40
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. 61
27343256 2016
41
Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. 61
27343258 2016
42
[Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy]. 61
27349080 2016
43
Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. 61
26854214 2016
44
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. 61
26917586 2016
45
Vici syndrome: a review. 61
26927810 2016
46
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. 61
26715604 2016
47
Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis. 61
26764600 2016
48
Vici syndrome in siblings born to consanguineous parents. 61
26395118 2016
49
Severe Central Sleep Apnea in Vici Syndrome. 61
26482670 2015
50
Ophthalmologic features of Vici syndrome. 61
24779424 2014

Variations for Vici Syndrome

ClinVar genetic disease variations for Vici Syndrome:

6 (show top 50) (show all 365)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPG5 NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) SNV Pathogenic 39980 rs587776939 18:43481019-43481019 18:45901054-45901054
2 EPG5 EPG5, 1-BP DUP, 5704T Duplication Pathogenic 39981
3 EPG5 NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) SNV Pathogenic 39982 rs587776940 18:43496075-43496075 18:45916110-45916110
4 EPG5 NM_020964.3(EPG5):c.2353dup (p.Ala785fs) Duplication Pathogenic 427732 rs1085308062 18:43510700-43510701 18:45930734-45930735
5 EPG5 NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) Duplication Pathogenic 466248 rs1555673890 18:43493697-43493698 18:45913732-45913733
6 EPG5 NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) SNV Pathogenic 488507 rs1203870830 18:43528539-43528539 18:45948573-45948573
7 EPG5 NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) SNV Pathogenic 488506 rs912986968 18:43523146-43523146 18:45943180-45943180
8 EPG5 NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) SNV Pathogenic 505026 rs1555673917 18:43493789-43493789 18:45913824-45913824
9 EPG5 NM_020964.3(EPG5):c.4108del (p.Leu1370fs) Deletion Pathogenic 267447 rs1135402731 18:43490583-43490583 18:45910618-45910618
10 EPG5 Variation Pathogenic 267450
11 EPG5 NM_020964.3(EPG5):c.5792del (p.Leu1931fs) Deletion Pathogenic 267444 rs1135402727 18:43459055-43459055 18:45879090-45879090
12 EPG5 NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter) SNV Pathogenic 267446 rs759625169 18:43508927-43508927 18:45928961-45928961
13 EPG5 NM_020964.3(EPG5):c.6766+1G>C SNV Pathogenic 267449 rs1135402735 18:43445579-43445579 18:45865614-45865614
14 EPG5 NM_020964.3(EPG5):c.2598A>G (p.Gln866=) SNV Pathogenic 267448 rs1135402733 18:43505824-43505824 18:45925858-45925858
15 EPG5 NM_020964.3(EPG5):c.4230G>A (p.Trp1410Ter) SNV Pathogenic 267445 rs1135402729 18:43488022-43488022 18:45908057-45908057
16 EPG5 NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) SNV Pathogenic 39984 rs587776942 18:43447707-43447707 18:45867742-45867742
17 EPG5 NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) SNV Pathogenic 39983 rs587776941 18:43505847-43505847 18:45925881-45925881
18 EPG5 NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) SNV Pathogenic 570219 rs190673127 18:43534944-43534944 18:45954978-45954978
19 EPG5 NM_020964.3(EPG5):c.3614del (p.Leu1205fs) Deletion Pathogenic 570260 rs1568150793 18:43495555-43495555 18:45915590-45915590
20 EPG5 NM_020964.3(EPG5):c.4286del (p.His1429fs) Deletion Pathogenic 580540 rs1568142333 18:43487966-43487966 18:45908001-45908001
21 EPG5 NM_020964.3(EPG5):c.1431_1434CTTC[1] (p.Phe478_Leu479insTer) Microsatellite Pathogenic 580542 rs762639913 18:43529509-43529512 18:45949543-45949546
22 EPG5 NM_020964.3(EPG5):c.1253-1G>A SNV Pathogenic 581923 rs1470797555 18:43531205-43531205 18:45951239-45951239
23 EPG5 NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) SNV Pathogenic 581925 rs763614919 18:43458345-43458345 18:45878380-45878380
24 EPG5 NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) Deletion Pathogenic 652177 rs1599447883 18:43447583-43447586 18:45867618-45867621
25 EPG5 NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) SNV Pathogenic 626237 rs767638289 18:43534473-43534473 18:45954507-45954507
26 EPG5 NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) Duplication Pathogenic 664487 rs1483969601 18:43535056-43535057 18:45955090-45955091
27 EPG5 NM_020964.3(EPG5):c.1252+1G>T SNV Pathogenic 803490 rs763788808 18:43532365-43532365 18:45952399-45952399
28 EPG5 NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) SNV Pathogenic 839415 18:43505706-43505706 18:45925740-45925740
29 EPG5 NM_020964.3(EPG5):c.1254del (p.Ser419fs) Deletion Pathogenic 844744 18:43531203-43531203 18:45951237-45951237
30 EPG5 NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter) SNV Pathogenic 848258 18:43438601-43438601 18:45858636-45858636
31 EPG5 NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter) SNV Pathogenic 856030 18:43440193-43440193 18:45860228-45860228
32 EPG5 NM_020964.3(EPG5):c.6577del (p.Val2193fs) Deletion Pathogenic 803488 rs1599445663 18:43446807-43446807 18:45866842-45866842
33 EPG5 NM_020964.3(EPG5):c.5870-2A>G SNV Pathogenic 803489 rs1599474108 18:43458415-43458415 18:45878450-45878450
34 EPG5 NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs) Microsatellite Pathogenic 939909 18:43532600-43532601 18:45952634-45952635
35 EPG5 NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter) SNV Pathogenic 939910 18:43514796-43514796 18:45934830-45934830
36 EPG5 NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) SNV Pathogenic 869404 18:43487925-43487925 18:45907960-45907960
37 EPG5 NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs) Deletion Pathogenic 984930 18:43460047-43460048 18:45880082-45880083
38 EPG5 NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer) Deletion Pathogenic 986342 18:43519599-43519599 18:45939633-45939633
39 EPG5 NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) SNV Pathogenic/Likely pathogenic 570218 rs780889226 18:43437927-43437927 18:45857962-45857962
40 EPG5 NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) SNV Pathogenic/Likely pathogenic 623301 rs1568107449 18:43450673-43450673 18:45870708-45870708
41 EPG5 NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) SNV Pathogenic/Likely pathogenic 217320 rs863225064 18:43435648-43435648 18:45855683-45855683
42 EPG5 NM_020964.3(EPG5):c.4665del (p.Glu1555fs) Deletion Likely pathogenic 375296 rs1057519318 18:43479513-43479513 18:45899548-45899548
43 EPG5 NM_020964.3(EPG5):c.1678-1G>A SNV Likely pathogenic 466238 rs755928939 18:43524086-43524086 18:45944120-45944120
44 EPG5 NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) SNV Likely pathogenic 192333 rs201757275 18:43534361-43534361 18:45954395-45954395
45 EPG5 NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) SNV Likely pathogenic 626231 rs1568112516 18:43456257-43456257 18:45876292-45876292
46 EPG5 NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) SNV Likely pathogenic 626232 rs961245497 18:43532369-43532369 18:45952403-45952403
47 EPG5 NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) SNV Likely pathogenic 626233 rs1568112543 18:43456284-43456284 18:45876319-45876319
48 EPG5 NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) SNV Likely pathogenic 626234 rs866435487 18:43535232-43535232 18:45955266-45955266
49 EPG5 NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) SNV Likely pathogenic 626245 rs1568133760 18:43479427-43479427 18:45899462-45899462
50 EPG5 NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) SNV Likely pathogenic 626246 rs1568133724 18:43479395-43479395 18:45899430-45899430

UniProtKB/Swiss-Prot genetic disease variations for Vici Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 EPG5 p.Gln336Arg VAR_069224 rs201757275
2 EPG5 p.Pro1827Ala VAR_081380 rs156811877

Expression for Vici Syndrome

Search GEO for disease gene expression data for Vici Syndrome.

Pathways for Vici Syndrome

GO Terms for Vici Syndrome

Cellular components related to Vici Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 WDR45 TECPR2 STX17 SQSTM1 SNAP29 RAN
2 cytosol GO:0005829 10.31 WDR45 STX17 SQSTM1 SNX14 SNAP29 RAN
3 lysosome GO:0005764 9.91 SQSTM1 SNX14 RAB7B RAB7A NBR1 EPG5
4 cytoplasmic vesicle GO:0031410 9.81 STX17 SQSTM1 SNAP29 RAB7B RAB7A NBR1
5 axoneme GO:0005930 9.78 ATG7 ATG5 ATG14 AMBRA1
6 late endosome GO:0005770 9.72 SQSTM1 SNX14 RAB7B RAB7A NBR1
7 late endosome membrane GO:0031902 9.71 SNX14 RAB7B RAB7A
8 phagocytic vesicle GO:0045335 9.71 RAB7B RAB7A ATG14 AMBRA1
9 phagocytic vesicle membrane GO:0030670 9.7 RAB7B RAB7A ATG5
10 Mitochondria-associated ER Membrane GO:0044233 9.63 STX17 ATG5 ATG14
11 phagophore assembly site GO:0000407 9.56 WDR45 SQSTM1 NBR1 ATG7
12 phagophore assembly site membrane GO:0034045 9.54 WDR45 ATG5 ATG14
13 autophagosome membrane GO:0000421 9.35 STX17 SNAP29 RAB7A GABARAPL1 ATG14
14 autophagosome GO:0005776 9.23 STX17 SQSTM1 SNAP29 NBR1 GABARAPL1 ATG5

Biological processes related to Vici Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.99 SNX14 SNAP29 RAN RAB7B RAB7A ATG7
2 macroautophagy GO:0016236 9.8 SQSTM1 NBR1 GABARAPL1 ATG7 ATG5 ATG14
3 endosome to lysosome transport GO:0008333 9.78 RAB7B RAB7A EPG5 ATG14
4 cellular response to starvation GO:0009267 9.77 WDR45 ATG7 ATG5 ATG14 AMBRA1
5 autophagosome maturation GO:0097352 9.72 STX17 SNX14 SNAP29 GABARAPL1 EPG5
6 cellular response to nitrogen starvation GO:0006995 9.67 GABARAPL1 ATG7 ATG5
7 mitophagy GO:0000423 9.63 SQSTM1 ATG14 AMBRA1
8 autophagy of mitochondrion GO:0000422 9.63 WDR45 SQSTM1 GABARAPL1 ATG7 ATG5 AMBRA1
9 response to mitochondrial depolarisation GO:0098780 9.61 SQSTM1 ATG14 AMBRA1
10 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.6 ATG14 AMBRA1
11 protein localization to phagophore assembly site GO:0034497 9.59 WDR45 STX17
12 protein lipidation GO:0006497 9.58 WDR45 ATG7
13 regulation of protein complex stability GO:0061635 9.58 SQSTM1 ATG14
14 autophagosome membrane docking GO:0016240 9.58 STX17 SNAP29 ATG14
15 phagosome-lysosome fusion GO:0090385 9.57 RAB7B RAB7A
16 autophagy of nucleus GO:0044804 9.56 WDR45 ATG5
17 aggrephagy GO:0035973 9.55 SQSTM1 ATG5
18 autophagy of host cells involved in interaction with symbiont GO:0075044 9.54 ATG7 ATG5
19 C-terminal protein lipidation GO:0006501 9.52 ATG7 ATG5
20 autophagosome assembly GO:0000045 9.5 WDR45 RAB7A GABARAPL1 ATG7 ATG5 ATG14
21 autophagy GO:0006914 9.4 WDR45 TECPR2 STX17 SQSTM1 SNAP29 RAB7A

Molecular functions related to Vici Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.62 WDR45 SNX14

Sources for Vici Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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