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VICIS
MCID: VCS001
MIFTS: 47

Vici Syndrome (VICIS)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Vici Syndrome

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MalaCards integrated aliases for Vici Syndrome:

Name: Vici Syndrome 57 12 53 25 59 75 37 29 13 6 15 40
Absent Corpus Callosum Cataract Immunodeficiency 53 25 44 73
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation, and Absent Corpus Callosum 57 12
Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation and Absent Corpus Callosum 53 25
Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome 25 59
Dionisi Vici Sabetta Gambarara Syndrome 53 25
Dionisi-Vici-Sabetta-Gambarara Syndrome 25 59
Vicis 57 75
Immunodeficiency with Cleft Lip/palate Cataract Hypopigmentation and Absent Corpus Callosum 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
vici syndrome:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases Immune diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Sources

Summaries for Vici Syndrome

About this section
NIH Rare Diseases : 53 Vici syndromeis 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.

MalaCards based summary : Vici Syndrome, also known as absent corpus callosum cataract immunodeficiency, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss, 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 Tuberculosis and Autophagy - animal. Affiliated tissues include eye, skin and heart, and related phenotypes are hypertelorism and agenesis of corpus callosum

Disease Ontology : 12 An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3.

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent... more...

Sources

Related Diseases for Vici Syndrome

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 sensorineural hearing loss 10.1
3 albinism 10.1
4 diaphragmatic hernia, congenital 10.1
5 laryngomalacia 9.9
6 thrombocytopenic purpura, autoimmune 9.9
7 retinitis pigmentosa 9.9
8 leber congenital amaurosis 4 9.9
9 alacrima, achalasia, and mental retardation syndrome 9.9
10 renal tubular acidosis 9.9
11 sleep apnea 9.9
12 purpura 9.9
13 retinitis 9.9
14 myopathy 9.9
15 influenza 9.9
16 central sleep apnea 9.9
17 mitochondrial disorders 9.9
18 central serous chorioretinopathy 9.9
19 neurodegeneration with brain iron accumulation 5 9.6 SNX14 TECPR2
20 spastic paraplegia 49, autosomal recessive 9.6 EPG5 SNX14 TECPR2

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



Diseases related to Vici Syndrome
Sources

Symptoms & Phenotypes for Vici Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
hypertelorism

Head And Neck Eyes:
nystagmus
ocular albinism
bilateral cataracts
retinal hypopigmentation

Growth Other:
failure to thrive
post natal growth retardation

Muscle Soft Tissue:
myopathy
hypotonia
variation in fiber size
internal nuclei
abnormal mitochondria
more
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

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

Head And Neck Ears:
low-set ears
sensorineural hearing loss (in some patients)

Neurologic Central Nervous System:
seizures
cerebellar vermis hypoplasia
white matter neuronal heterotopia
abnormal posturing
hypotonia
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
micrognathia
cleft lip

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

Respiratory Airways:
recurrent respiratory tract infections

Skin Nails Hair Hair:
hair hypopigmentation


Clinical features from OMIM:

242840

Human phenotypes related to Vici Syndrome:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
9 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
10 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
13 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
14 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
16 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
17 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
18 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
19 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
20 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
21 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
22 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
23 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
24 depressed nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000437
25 igg deficiency 59 32 Occasional (29-5%) HP:0004315
26 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
27 renal tubular acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001947
28 ureteral atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005999
29 white matter neuronal heterotopia 59 32 frequent (33%) Frequent (79-30%) HP:0007314
30 immunoglobulin igg2 deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008348
31 hypoplasia of the pons 59 32 frequent (33%) Frequent (79-30%) HP:0012110
32 low-set ears 32 HP:0000369
33 failure to thrive 32 HP:0001508
34 microcephaly 32 HP:0000252
35 myopathy 32 HP:0003198
36 immunodeficiency 32 HP:0002721
37 cleft palate 32 HP:0000175
38 micrognathia 32 HP:0000347
39 feeding difficulties 59 Occasional (29-5%)
40 death in infancy 59 Very frequent (99-80%)
41 congestive heart failure 32 HP:0001635
42 growth delay 32 HP:0001510
43 dilated cardiomyopathy 32 HP:0001644
44 abnormality of the macula 59 Occasional (29-5%)
45 motor delay 32 HP:0001270
46 hypopigmentation of hair 32 HP:0005599
47 left ventricular hypertrophy 32 HP:0001712
48 recurrent infections 59 Very frequent (99-80%)
49 hypopigmentation of the fundus 32 HP:0007894
50 cleft upper lip 32 HP:0000204

UMLS symptoms related to Vici Syndrome:


seizures
Sources

Drugs & Therapeutics for Vici Syndrome

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Search Clinical Trials , NIH Clinical Center for Vici Syndrome

Cochrane evidence based reviews: absent corpus callosum cataract immunodeficiency

Sources

Genetic Tests for Vici Syndrome

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Genetic tests related to Vici Syndrome:

# Genetic test Affiliating Genes
1 Vici Syndrome 29 EPG5
Sources

Anatomical Context for Vici Syndrome

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MalaCards organs/tissues related to Vici Syndrome:

41
Eye, Skin, Heart, Brain, T Cells, Thymus, Pons
Sources

Publications for Vici Syndrome

About this section

Articles related to Vici Syndrome:

(show all 35)
# Title Authors Year
1
A rare mutation in the EPG5 gene causes Vici syndrome. ( 29944490 )
2018
2
Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. ( 29227033 )
2018
3
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. ( 29681093 )
2018
4
A Saudi Infant with Vici Syndrome: Case Report and Literature Review. ( 29983806 )
2018
5
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. ( 30152144 )
2018
6
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature. ( 28624465 )
2017
7
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. ( 29159459 )
2017
8
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. ( 28615637 )
2017
9
Autopsy findings in EPG5-related Vici syndrome with antenatal onset. ( 28748650 )
2017
10
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. ( 29130391 )
2017
11
Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. ( 27343258 )
2016
12
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. ( 26917586 )
2016
13
Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa. ( 27715390 )
2016
14
The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes. ( 27588602 )
2016
15
Vici syndrome: a review. ( 26927810 )
2016
16
Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis. ( 26764600 )
2016
17
Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. ( 26854214 )
2016
18
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. ( 27343256 )
2016
19
Vici syndrome in siblings born to consanguineous parents. ( 26395118 )
2015
20
Severe Central Sleep Apnea in Vici Syndrome. ( 26482670 )
2015
21
Ophthalmologic features of Vici syndrome. ( 24779424 )
2014
22
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. ( 25331754 )
2014
23
Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome. ( 25258354 )
2014
24
Clinical utility gene card for: Vici syndrome. ( 23838600 )
2013
25
Role of Epg5 in selective neurodegeneration and Vici syndrome. ( 23674064 )
2013
26
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. ( 23222957 )
2013
27
Vici syndrome associated with sensorineural hearing loss and laryngomalacia. ( 23044023 )
2012
28
Immunodeficiency in Vici syndrome: a heterogeneous phenotype. ( 21965116 )
2012
29
Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. ( 21964879 )
2012
30
Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. ( 23091746 )
2011
31
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. ( 20186778 )
2010
32
Vici syndrome associated with unilateral lung hypoplasia and myopathy. ( 20583151 )
2010
33
Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. ( 17163544 )
2007
34
Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. ( 11932994 )
2002
35
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. ( 10405446 )
1999
Sources

Variations for Vici Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 EPG5 p.Gln336Arg VAR_069224 rs201757275

ClinVar genetic disease variations for Vici Syndrome:

6 (show top 50) (show all 240)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPG5 NM_020964.2(EPG5): c.4588C> T (p.Gln1530Ter) single nucleotide variant Pathogenic rs587776939 GRCh37 Chromosome 18, 43481019: 43481019
2 EPG5 NM_020964.2(EPG5): c.4588C> T (p.Gln1530Ter) single nucleotide variant Pathogenic rs587776939 GRCh38 Chromosome 18, 45901054: 45901054
3 EPG5 EPG5, 1-BP DUP, 5704T duplication Pathogenic
4 EPG5 NM_020964.2(EPG5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs587776940 GRCh37 Chromosome 18, 43496075: 43496075
5 EPG5 NM_020964.2(EPG5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs587776940 GRCh38 Chromosome 18, 45916110: 45916110
6 EPG5 NM_020964.2(EPG5): c.2575G> T (p.Glu859Ter) single nucleotide variant Pathogenic rs587776941 GRCh37 Chromosome 18, 43505847: 43505847
7 EPG5 NM_020964.2(EPG5): c.2575G> T (p.Glu859Ter) single nucleotide variant Pathogenic rs587776941 GRCh38 Chromosome 18, 45925881: 45925881
8 EPG5 NM_020964.2(EPG5): c.6232C> T (p.Arg2078Ter) single nucleotide variant Pathogenic rs587776942 GRCh37 Chromosome 18, 43447707: 43447707
9 EPG5 NM_020964.2(EPG5): c.6232C> T (p.Arg2078Ter) single nucleotide variant Pathogenic rs587776942 GRCh38 Chromosome 18, 45867742: 45867742
10 EPG5 NM_020964.2(EPG5): c.1007A> G (p.Gln336Arg) single nucleotide variant Likely pathogenic rs201757275 GRCh37 Chromosome 18, 43534361: 43534361
11 EPG5 NM_020964.2(EPG5): c.1007A> G (p.Gln336Arg) single nucleotide variant Likely pathogenic rs201757275 GRCh38 Chromosome 18, 45954395: 45954395
12 EPG5 NM_020964.2(EPG5): c.7447C> T (p.Arg2483Ter) single nucleotide variant Pathogenic rs863225064 GRCh38 Chromosome 18, 45855683: 45855683
13 EPG5 NM_020964.2(EPG5): c.7447C> T (p.Arg2483Ter) single nucleotide variant Pathogenic rs863225064 GRCh37 Chromosome 18, 43435648: 43435648
14 EPG5 NM_020964.2(EPG5): c.4039A> C (p.Asn1347His) single nucleotide variant Conflicting interpretations of pathogenicity rs144860976 GRCh37 Chromosome 18, 43490652: 43490652
15 EPG5 NM_020964.2(EPG5): c.4039A> C (p.Asn1347His) single nucleotide variant Conflicting interpretations of pathogenicity rs144860976 GRCh38 Chromosome 18, 45910687: 45910687
16 EPG5 NM_020964.2(EPG5): c.299C> T (p.Thr100Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200530606 GRCh37 Chromosome 18, 43535069: 43535069
17 EPG5 NM_020964.2(EPG5): c.299C> T (p.Thr100Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200530606 GRCh38 Chromosome 18, 45955103: 45955103
18 EPG5 NM_020964.2(EPG5): c.2063T> C (p.Phe688Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61978576 GRCh37 Chromosome 18, 43519602: 43519602
19 EPG5 NM_020964.2(EPG5): c.2063T> C (p.Phe688Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61978576 GRCh38 Chromosome 18, 45939636: 45939636
20 EPG5 NM_020964.2(EPG5): c.6766+1G> C single nucleotide variant no interpretation for the single variant rs1135402735 GRCh37 Chromosome 18, 43445579: 43445579
21 EPG5 NM_020964.2(EPG5): c.6766+1G> C single nucleotide variant no interpretation for the single variant rs1135402735 GRCh38 Chromosome 18, 45865614: 45865614
22 EPG5 NM_020964.2(EPG5): c.5792delT (p.Leu1931Trpfs) deletion no interpretation for the single variant rs1135402727 GRCh37 Chromosome 18, 43459055: 43459055
23 EPG5 NM_020964.2(EPG5): c.5792delT (p.Leu1931Trpfs) deletion no interpretation for the single variant rs1135402727 GRCh38 Chromosome 18, 45879090: 45879090
24 EPG5 NM_020964.2(EPG5): c.4230G> A (p.Trp1410Ter) single nucleotide variant no interpretation for the single variant rs1135402729 GRCh38 Chromosome 18, 45908057: 45908057
25 EPG5 NM_020964.2(EPG5): c.4230G> A (p.Trp1410Ter) single nucleotide variant no interpretation for the single variant rs1135402729 GRCh37 Chromosome 18, 43488022: 43488022
26 EPG5 NM_020964.2(EPG5): c.4108delC (p.Leu1370Serfs) deletion no interpretation for the single variant rs1135402731 GRCh38 Chromosome 18, 45910618: 45910618
27 EPG5 NM_020964.2(EPG5): c.4108delC (p.Leu1370Serfs) deletion no interpretation for the single variant rs1135402731 GRCh37 Chromosome 18, 43490583: 43490583
28 EPG5 NM_020964.2(EPG5): c.3152C> G (p.Ser1051Ter) single nucleotide variant no interpretation for the single variant rs746885334 GRCh38 Chromosome 18, 45917766: 45917766
29 EPG5 NM_020964.2(EPG5): c.3152C> G (p.Ser1051Ter) single nucleotide variant no interpretation for the single variant rs746885334 GRCh37 Chromosome 18, 43497731: 43497731
30 EPG5 NM_020964.2(EPG5): c.3044C> T (p.Ala1015Val) single nucleotide variant no interpretation for the single variant rs1135402736 GRCh37 Chromosome 18, 43502361: 43502361
31 EPG5 NM_020964.2(EPG5): c.3044C> T (p.Ala1015Val) single nucleotide variant no interpretation for the single variant rs1135402736 GRCh38 Chromosome 18, 45922395: 45922395
32 EPG5 NM_020964.2(EPG5): c.2598A> G (p.Gln866=) single nucleotide variant no interpretation for the single variant rs1135402733 GRCh37 Chromosome 18, 43505824: 43505824
33 EPG5 NM_020964.2(EPG5): c.2598A> G (p.Gln866=) single nucleotide variant no interpretation for the single variant rs1135402733 GRCh38 Chromosome 18, 45925858: 45925858
34 EPG5 NM_020964.2(EPG5): c.1188delC (p.Tyr396Terfs) deletion no interpretation for the single variant rs1135402734 GRCh38 Chromosome 18, 45952464: 45952464
35 EPG5 NM_020964.2(EPG5): c.1188delC (p.Tyr396Terfs) deletion no interpretation for the single variant rs1135402734 GRCh37 Chromosome 18, 43532430: 43532430
36 EPG5 NM_020964.2(EPG5): c.2T> C (p.Met1Thr) single nucleotide variant no interpretation for the single variant rs1135402728 GRCh38 Chromosome 18, 45967238: 45967238
37 EPG5 NM_020964.2(EPG5): c.2T> C (p.Met1Thr) single nucleotide variant no interpretation for the single variant rs1135402728 GRCh37 Chromosome 18, 43547204: 43547204
38 EPG5 NM_020964.2(EPG5): c.2461C> T (p.Arg821Ter) single nucleotide variant no interpretation for the single variant rs759625169 GRCh37 Chromosome 18, 43508927: 43508927
39 EPG5 NM_020964.2(EPG5): c.2461C> T (p.Arg821Ter) single nucleotide variant no interpretation for the single variant rs759625169 GRCh38 Chromosome 18, 45928961: 45928961
40 EPG5 NM_020964.2(EPG5): c.3582G> A (p.Lys1194=) single nucleotide variant no interpretation for the single variant rs1135402730 GRCh37 Chromosome 18, 43495974: 43495974
41 EPG5 NM_020964.2(EPG5): c.3582G> A (p.Lys1194=) single nucleotide variant no interpretation for the single variant rs1135402730 GRCh38 Chromosome 18, 45916009: 45916009
42 EPG5 NM_020964.2(EPG5): c.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs1135402732 GRCh38 Chromosome 18, 45967239: 45967239
43 EPG5 NM_020964.2(EPG5): c.1A> G (p.Met1Val) single nucleotide variant no interpretation for the single variant rs1135402732 GRCh37 Chromosome 18, 43547205: 43547205
44 EPG5 undetermined variant Pathogenic
45 EPG5 NM_020964.2(EPG5): c.1497+1G> T single nucleotide variant Pathogenic rs886043244 GRCh37 Chromosome 18, 43529449: 43529449
46 EPG5 NM_020964.2(EPG5): c.1497+1G> T single nucleotide variant Pathogenic rs886043244 GRCh38 Chromosome 18, 45949483: 45949483
47 EPG5 NM_020964.2(EPG5): c.6752delT (p.Val2251Alafs) deletion Uncertain significance rs1057516194 GRCh37 Chromosome 18, 43445594: 43445594
48 EPG5 NM_020964.2(EPG5): c.6752delT (p.Val2251Alafs) deletion Uncertain significance rs1057516194 GRCh38 Chromosome 18, 45865629: 45865629
49 EPG5 NM_020964.2(EPG5): c.4665delA (p.Glu1555Aspfs) deletion Likely pathogenic rs1057519318 GRCh38 Chromosome 18, 45899548: 45899548
50 EPG5 NM_020964.2(EPG5): c.4665delA (p.Glu1555Aspfs) deletion Likely pathogenic rs1057519318 GRCh37 Chromosome 18, 43479513: 43479513
Sources

Expression for Vici Syndrome

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Search GEO for disease gene expression data for Vici Syndrome.
Sources

Pathways for Vici Syndrome

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Pathways related to Vici Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Tuberculosis 37
11.21 RAB7A TLR9
2
Autophagy - animal 37
10.73 RAB7A SNAP29
Sources

GO Terms for Vici Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.54 RAB7A SNAP29 TLR9
2 endosome membrane GO:0010008 9.43 RAB7A TLR9
3 endosome GO:0005768 9.43 RAB7A SNX14 TLR9
4 late endosome GO:0005770 9.4 RAB7A SNX14
5 late endosome membrane GO:0031902 9.32 RAB7A SNX14
6 phagocytic vesicle GO:0045335 9.16 RAB7A TLR9
7 lysosome GO:0005764 9.13 RAB7A SNX14 TLR9
8 autophagosome membrane GO:0000421 8.62 RAB7A SNAP29

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 RAB7A SNAP29 SNX14
2 autophagosome maturation GO:0097352 9.13 EPG5 SNAP29 SNX14
3 autophagy GO:0006914 8.92 EPG5 RAB7A SNAP29 TECPR2
Sources

Sources for Vici Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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