VSVS
MCID: VLT001
MIFTS: 34

Vulto-Van Silfhout-De Vries Syndrome (VSVS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Vulto-Van Silfhout-De Vries Syndrome

MalaCards integrated aliases for Vulto-Van Silfhout-De Vries Syndrome:

Name: Vulto-Van Silfhout-De Vries Syndrome 56
Mental Retardation, Autosomal Dominant 24 56 73 29 6
Mrd24 56 73
Intellectual Developmental Disorder with Impaired Expressive Speech and Behavioral Abnormalities, with or Without Seizures; Iddisbas 56
Intellectual Developmental Disorder with Impaired Expressive Speech and Behavioral Abnormalities, with or Without Seizures 56
Mental Retardation, Autosomal Dominant 24; Mrd24 56
Mental Retardation, Autosomal Dominant, Type 24 39
Vulto-Van Silfout-De Vries Syndrome 56
Iddisbas 56
Vsvs 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

31
vulto-van silfhout-de vries syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vulto-Van Silfhout-De Vries Syndrome

OMIM : 56 Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by Nabais Sa et al., 2019). (615828)

MalaCards based summary : Vulto-Van Silfhout-De Vries Syndrome, also known as mental retardation, autosomal dominant 24, is related to autosomal dominant non-syndromic intellectual disability 24 and stomatitis. An important gene associated with Vulto-Van Silfhout-De Vries Syndrome is DEAF1 (DEAF1 Transcription Factor). Affiliated tissues include eye, brain and skin, and related phenotypes are sacral dimple and intellectual disability

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 24: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Vulto-Van Silfhout-De Vries Syndrome

Diseases related to Vulto-Van Silfhout-De Vries Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 24 11.3
2 stomatitis 11.1
3 vaccinia 10.3
4 encephalitis 10.3
5 rabies 10.2
6 lymphocytic choriomeningitis 10.2
7 glioblastoma multiforme 10.2
8 neuroblastoma 10.2
9 herpes simplex 10.2
10 cytokine deficiency 10.2
11 human immunodeficiency virus type 1 10.2
12 melanoma, cutaneous malignant 10 10.2
13 melanoma 10.2
14 severe acute respiratory syndrome 10.2
15 ebola hemorrhagic fever 10.2
16 severe combined immunodeficiency 10.2
17 hepatocellular carcinoma 10.1
18 leukemia, chronic lymphocytic 10.1
19 polykaryocytosis inducer 10.1
20 paragangliomas 3 10.1
21 middle east respiratory syndrome 10.1
22 squamous cell papilloma 10.1
23 cholera 10.1
24 papilloma 10.1
25 mouth disease 10.1
26 b-cell lymphoma 10.1
27 measles 10.1
28 ovarian epithelial cancer 10.1
29 encephalopathy 10.1
30 colorectal cancer 9.9
31 ovarian cancer 9.9
32 papillomatosis, confluent and reticulated 9.9
33 prostate cancer 9.9
34 cystic fibrosis 9.9
35 multiple pterygium syndrome, lethal type 9.9
36 myeloma, multiple 9.9
37 squamous cell carcinoma, head and neck 9.9
38 hemophilia a 9.9
39 leukemia, acute myeloid 9.9
40 endometrial cancer 9.9
41 lung cancer susceptibility 3 9.9
42 pulmonary hypertension 9.9
43 bone resorption disease 9.9
44 coronavirus infectious disease 9.9
45 meningoencephalitis 9.9
46 japanese encephalitis 9.9
47 microcephaly 9.9
48 leukemia 9.9
49 guillain-barre syndrome 9.9
50 diarrhea 9.9

Graphical network of the top 20 diseases related to Vulto-Van Silfhout-De Vries Syndrome:



Diseases related to Vulto-Van Silfhout-De Vries Syndrome

Symptoms & Phenotypes for Vulto-Van Silfhout-De Vries Syndrome

Human phenotypes related to Vulto-Van Silfhout-De Vries Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sacral dimple 31 occasional (7.5%) HP:0000960
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 mandibular prognathia 31 HP:0000303
5 gait disturbance 31 HP:0001288
6 thick lower lip vermilion 31 HP:0000179
7 tented upper lip vermilion 31 HP:0010804
8 poor eye contact 31 HP:0000817
9 recurrent infections 31 HP:0002719
10 aggressive behavior 31 HP:0000718
11 horizontal eyebrow 31 HP:0011228
12 mood swings 31 HP:0000720

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
developmental regression
difficulty walking
sleep disturbances
hypotonia
developmental delay
more
Head And Neck Face:
prominent forehead
prominent chin
dysmorphic features, nonspecific, mild

Head And Neck Eyes:
poor eye contact
straight eyebrows

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
mood swings
autism spectrum disorder
happy disposition
compulsive behavior
more
Head And Neck Head:
large head

Head And Neck Nose:
full nasal tip

Skin Nails Hair Skin:
sacral dimple (2 patients)

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
constipation
diarrhea

Skeletal:
joint hypermobility

Immunology:
recurrent infections

Skeletal Hands:
prominent fingertip pads

Head And Neck Mouth:
tented upper lip
full lower lip

Skeletal Feet:
skin syndactyly, 2-3

Clinical features from OMIM:

615828

Drugs & Therapeutics for Vulto-Van Silfhout-De Vries Syndrome

Search Clinical Trials , NIH Clinical Center for Vulto-Van Silfhout-De Vries Syndrome

Genetic Tests for Vulto-Van Silfhout-De Vries Syndrome

Genetic tests related to Vulto-Van Silfhout-De Vries Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 24 29 DEAF1

Anatomical Context for Vulto-Van Silfhout-De Vries Syndrome

MalaCards organs/tissues related to Vulto-Van Silfhout-De Vries Syndrome:

40
Eye, Brain, Skin, T Cells, Liver, Testes, B Cells

Publications for Vulto-Van Silfhout-De Vries Syndrome

Articles related to Vulto-Van Silfhout-De Vries Syndrome:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 56 6
24726472 2014
2
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 56
23020937 2012
3
A de novo paradigm for mental retardation. 56 6
21076407 2010
4
De novo and biallelic DEAF1 variants cause a phenotypic spectrum. 56
30923367 2019
5
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. 56
30451703 2019
6
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 56
28940898 2017
7
Management Strategies for Reducing the Risk of Equines Contracting Vesicular Stomatitis Virus (VSV) in the Western United States. 61
32534788 2020
8
Mucin-Like Domain of Ebola Virus Glycoprotein Enhances Selective Oncolytic Actions against Brain Tumors. 61
32051271 2020
9
Experimental Evolution Generates Novel Oncolytic Vesicular Stomatitis Viruses with Improved Replication in Virus-Resistant Pancreatic Cancer Cells. 61
31694943 2020
10
O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity. 61
30543776 2018
11
Secretome Screening Reveals Fibroblast Growth Factors as Novel Inhibitors of Viral Replication. 61
29899088 2018
12
Whole-Body Voxel-Based Personalized Dosimetry: The Multiple Voxel S-Value Approach for Heterogeneous Media with Nonuniform Activity Distributions. 61
29242397 2018
13
Porcine monocyte-derived dendritic cells can be differentially activated by vesicular stomatitis virus and its matrix protein mutants. 61
29778202 2018
14
Oncotargeting by Vesicular Stomatitis Virus (VSV): Advances in Cancer Therapy. 61
29473868 2018
15
Development of an Acute Method to Deliver Transgenes Into the Brains of Adult Xenopus laevis. 61
30416430 2018
16
Development of a micro-neutralization assay for ebolaviruses using a replication-competent vesicular stomatitis hybrid virus and a quantitative PCR readout. 61
28427845 2017
17
Chikungunya, Influenza, Nipah, and Semliki Forest Chimeric Viruses with Vesicular Stomatitis Virus: Actions in the Brain. 61
28077641 2017
18
Robust Oncolytic Virotherapy Induces Tumor Lysis Syndrome and Associated Toxicities in the MPC-11 Plasmacytoma Model. 61
27669655 2016
19
Characterization of the glycoproteins of bat-derived influenza viruses. 61
26605499 2016
20
Differences in 3D dose distributions due to calculation method of voxel S-values and the influence of image blurring in SPECT. 61
25668639 2015
21
Recoding of the vesicular stomatitis virus L gene by computer-aided design provides a live, attenuated vaccine candidate. 61
25827413 2015
22
Induction of apoptosis in pancreatic cancer cells by vesicular stomatitis virus. 61
25463614 2015
23
Heat shock protein 70 enhances mucosal immunity against human norovirus when coexpressed from a vesicular stomatitis virus vector. 61
24574391 2014
24
mRNA cap methylation influences pathogenesis of vesicular stomatitis virus in vivo. 61
24371058 2014
25
Characteristics of oncolytic vesicular stomatitis virus displaying tumor-targeting ligands. 61
24089573 2013
26
Meningeal myeloma deposits adversely impact the therapeutic index of an oncolytic VSV. 61
24176894 2013
27
A fast method for rescaling voxel S values for arbitrary voxel sizes in targeted radionuclide therapy from a single Monte Carlo calculation. 61
23927347 2013
28
Nonreplicating vaccines can protect african green monkeys from the memphis 37 strain of respiratory syncytial virus. 61
23596321 2013
29
Vesicular stomatitis virus variants selectively infect and kill human melanomas but not normal melanocytes. 61
23552414 2013
30
PEGylation of vesicular stomatitis virus extends virus persistence in blood circulation of passively immunized mice. 61
23325695 2013
31
Neuroattenuation of vesicular stomatitis virus through picornaviral internal ribosome entry sites. 61
23283963 2013
32
Highly attenuated recombinant vesicular stomatitis virus VSV-12'GFP displays immunogenic and oncolytic activity. 61
23135719 2013
33
Genetically modified VSV(NJ) vector is capable of accommodating a large foreign gene insert and allows high level gene expression. 61
23207069 2013
34
An analytical method for computing voxel S values for electrons and photons. 61
23127074 2012
35
Hemotherapy bedside biovigilance involving vital sign values and characteristics of patients with suspected transfusion reactions associated with fluid challenges: can some cases of transfusion-associated circulatory overload have proinflammatory aspects? 61
23216230 2012
36
Current ebola vaccines. 61
22559078 2012
37
Baculovirus GP64-mediated entry into mammalian cells. 61
22190715 2012
38
Evaluation of attenuated VSVs with mutated M or/and G proteins as vaccine vectors. 61
22222871 2012
39
Clinical feasibility of fast 3-dimensional dosimetry of the liver for treatment planning of hepatocellular carcinoma with 90Y-microspheres. 61
22068894 2011
40
Vesicular stomatitis virus expressing tumor suppressor p53 is a highly attenuated, potent oncolytic agent. 61
21813611 2011
41
Vesicular stomatitis virus-simian retrovirus type 2 vaccine protects macaques from detectable infection and B-cell destruction. 61
21490096 2011
42
Development and Applications of VSV Vectors Based on Cell Tropism. 61
22279443 2011
43
Stimulation of human dendritic cells by wild-type and M protein mutant vesicular stomatitis viruses engineered to express bacterial flagellin. 61
20844045 2010
44
Fine-resolution voxel S values for constructing absorbed dose distributions at variable voxel size. 61
20847175 2010
45
Acquisition of complement resistance through incorporation of CD55/decay-accelerating factor into viral particles bearing baculovirus GP64. 61
20071581 2010
46
Protection against lethal vaccinia virus challenge by using an attenuated matrix protein mutant vesicular stomatitis virus vaccine vector expressing poxvirus antigens. 61
20089648 2010
47
Attenuation of vesicular stomatitis virus encephalitis through microRNA targeting. 61
19906911 2010
48
Peripheral immunization blocks lethal actions of vesicular stomatitis virus within the brain. 61
19726512 2009
49
Viral strategies for studying the brain, including a replication-restricted self-amplifying delta-G vesicular stomatis virus that rapidly expresses transgenes in brain and can generate a multicolor golgi-like expression. 61
19672982 2009
50
Recombinant vesicular stomatitis virus-based west Nile vaccine elicits strong humoral and cellular immune responses and protects mice against lethal challenge with the virulent west Nile virus strain LSU-AR01. 61
19070640 2009

Variations for Vulto-Van Silfhout-De Vries Syndrome

ClinVar genetic disease variations for Vulto-Van Silfhout-De Vries Syndrome:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DEAF1 NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)duplication Pathogenic 802647 11:695012-695013 11:695012-695013
2 DEAF1 NM_021008.4(DEAF1):c.640C>G (p.Leu214Val)SNV Pathogenic 915949 11:687935-687935 11:687935-687935
3 DEAF1 NM_021008.4(DEAF1):c.826G>C (p.Ala276Pro)SNV Pathogenic 915950 11:684942-684942 11:684942-684942
4 DEAF1 NM_021008.4(DEAF1):c.664+1G>TSNV Pathogenic 915951 11:687910-687910 11:687910-687910
5 DEAF1 NM_021008.4(DEAF1):c.815_817delinsG (p.Leu272_Asn273delinsTer)indel Pathogenic 915952 11:684951-684953 11:684951-684953
6 DEAF1 NM_001293634.1(DEAF1):c.664+932T>GSNV Pathogenic 133291 rs587777406 11:686979-686979 11:686979-686979
7 DEAF1 NM_001293634.1(DEAF1):c.664+919C>TSNV Pathogenic 133293 rs587777408 11:686992-686992 11:686992-686992
8 DEAF1 NM_001293634.1(DEAF1):c.664+1011A>CSNV Pathogenic 133294 rs587777409 11:686900-686900 11:686900-686900
9 DEAF1 NM_021008.3(DEAF1):c.997+4A>CSNV Pathogenic 267316 rs886040972 11:680959-680959 11:680959-680959
10 DEAF1 NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser)SNV Pathogenic/Likely pathogenic 375554 rs1057519565 11:687941-687941 11:687941-687941
11 DEAF1 NM_001293634.1(DEAF1):c.664+986G>CSNV Likely pathogenic 437396 rs1554944271 11:686925-686925 11:686925-686925
12 DEAF1 NM_021008.4(DEAF1):c.910_912AAG[1] (p.Lys305del)short repeat Likely pathogenic 437397 rs1554943158 11:681045-681047 11:681045-681047
13 DEAF1 NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)SNV Likely pathogenic 437398 rs1057524157 11:686962-686962 11:686962-686962
14 DEAF1 NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)SNV Likely pathogenic 802645 11:681080-681080 11:681080-681080
15 DEAF1 NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del)deletion Uncertain significance 802646 11:694950-694964 11:694950-694964
16 DEAF1 NM_021008.3(DEAF1):c.716A>G (p.Glu239Gly)SNV Uncertain significance 422488 rs1064795812 11:686946-686946 11:686946-686946
17 DEAF1 NM_021008.3(DEAF1):c.1123A>G (p.Thr375Ala)SNV Uncertain significance 431373 rs1135401947 11:679691-679691 11:679691-679691
18 DEAF1 NM_021008.3(DEAF1):c.1621G>A (p.Gly541Ser)SNV Uncertain significance 585775 rs771661969 11:644627-644627 11:644627-644627
19 DEAF1 NM_021008.3(DEAF1):c.776C>T (p.Ala259Val)SNV Uncertain significance 592120 rs1564949612 11:686886-686886 11:686886-686886
20 DEAF1 NM_021008.3(DEAF1):c.791A>C (p.Gln264Pro)SNV Uncertain significance 133292 rs587777407 11:686871-686871 11:686871-686871

UniProtKB/Swiss-Prot genetic disease variations for Vulto-Van Silfhout-De Vries Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 DEAF1 p.Ile228Ser VAR_065089 rs587777406
2 DEAF1 p.Arg224Trp VAR_071371 rs587777408
3 DEAF1 p.Arg254Ser VAR_071373 rs587777409
4 DEAF1 p.Gln264Pro VAR_071374 rs587777407

Expression for Vulto-Van Silfhout-De Vries Syndrome

Search GEO for disease gene expression data for Vulto-Van Silfhout-De Vries Syndrome.

Pathways for Vulto-Van Silfhout-De Vries Syndrome

GO Terms for Vulto-Van Silfhout-De Vries Syndrome

Sources for Vulto-Van Silfhout-De Vries Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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