Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
VCFS
MCID: VLC001
MIFTS: 56

Velocardiofacial Syndrome (VCFS)

Categories: Cardiovascular diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Velocardiofacial Syndrome

About this section

MalaCards integrated aliases for Velocardiofacial Syndrome:

Name: Velocardiofacial Syndrome 57 12 76 75 37 13 55 15 40
Shprintzen Syndrome 12 76 29 6 73
Chromosome 22q11.2 Deletion Syndrome 57 75
Shprintzen Vcf Syndrome 57 75
22q11 Deletion Syndrome 12 73
Vcf Syndrome 57 75
Vcfs 57 75
Conotruncal Anomaly Face Syndrome 73
Vcf-Velocardiofacial Syndrome 12
Velo-Cardio-Facial Syndrome 75
Deletion 22q11.2 Syndrome 12
Vcf Syndrome; Vcfs 57
Digeorge Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
overlapping features of digeorge syndrome
incidence is estimated to be between 1 in 2,000 to 1 in 7,000 live births


HPO:

32
velocardiofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Velocardiofacial Syndrome

About this section
UniProtKB/Swiss-Prot : 75 Velocardiofacial syndrome: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.

MalaCards based summary : Velocardiofacial Syndrome, also known as shprintzen syndrome, is related to digeorge syndrome and thrombocytopenia. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box 1), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thymus, and related phenotypes are intellectual disability and muscular hypotonia

Disease Ontology : 12 A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.

Wikipedia : 76 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a... more...

Description from OMIM: 192430
Sources

Related Diseases for Velocardiofacial Syndrome

About this section

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 31.8 UFD1 TBX1 SLC25A1 PRODH MRPL40 HIRA
2 thrombocytopenia 30.5 GP9 GP1BB GP1BA
3 hyperprolinemia 30.0 PRODH COMT
4 bernard-soulier syndrome 30.0 GP9 GP1BB GP1BA
5 schizophrenia 30.0 TBX1 PRODH DGCR6 COMT ARVCF
6 tetralogy of fallot 29.9 UFD1 TBX1 HIRA DGCR
7 goldberg-shprintzen syndrome 12.6
8 chromosome 22q11.2 deletion syndrome, distal 12.5
9 digeorge syndrome/velocardiofacial syndrome complex 2 12.2
10 opitz gbbb syndrome, type ii 11.5
11 mowat-wilson syndrome 11.2
12 oligomeganephronia 11.2
13 chromosome 8p23.1 deletion 11.1
14 major affective disorder 1 10.2
15 prader-willi syndrome 10.2
16 oculocerebral syndrome with hypopigmentation 10.2
17 cognitive function 1, social 10.2
18 major affective disorder 8 10.2
19 major affective disorder 7 10.2
20 major affective disorder 9 10.2
21 supernumerary der(22)t(8 10.2
22 holoprosencephaly 10.2
23 pemphigus foliaceus 10.2
24 myelomeningocele 10.2
25 polyhydramnios 10.2
26 learning disability 10.2
27 pemphigus 10.2
28 fetal and neonatal alloimmune thrombocytopenia 10.2 GP1BB GP1BA
29 hirschsprung disease 1 10.2
30 pseudo-von willebrand disease 10.2 GP9 GP1BB GP1BA
31 inherited blood coagulation disease 10.2 GP9 GP1BB GP1BA
32 blood coagulation disease 10.2 GP9 GP1BB GP1BA
33 palatopharyngeal incompetence 10.2
34 autosomal dominant macrothrombocytopenia 10.2 GP1BB GP1BA
35 blood platelet disease 10.1 GP9 GP1BB GP1BA
36 evans' syndrome 10.1
37 attention deficit-hyperactivity disorder 10.1
38 heart disease 10.1
39 lung agenesis 10.1
40 psychotic disorder 10.1
41 microcephaly 10.0
42 immunoglobulin alpha deficiency 10.0
43 thrombasthenia 10.0 GP9 GP1BA
44 autism 10.0
45 arthritis 10.0
46 anemia, autoimmune hemolytic 9.9
47 alacrima, achalasia, and mental retardation syndrome 9.9
48 diabetes mellitus 9.9
49 hemolytic anemia 9.9
50 autism spectrum disorder 9.9

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



Diseases related to Velocardiofacial Syndrome
Sources

Symptoms & Phenotypes for Velocardiofacial Syndrome

About this section

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Head And Neck Face:
retrognathia
long
pierre robin syndrome

Head And Neck Eyes:
posterior embryotoxon
narrow palpebral fissures
small optic discs
tortuous retinal vessels

Cardiovascular Vascular:
right aortic arch
aberrant left subclavian
internal carotid artery abnormalities

Head And Neck Nose:
bulbous nasal tip
square nasal root
decreased nasopharyngeal lymphoid tissue
prominent tubular nose
hypoplastic nasal alae

Head And Neck Ears:
minor auricular anomalies

Skeletal Hands:
slender hands and digits

Immunology:
frequent infections t-lymphocyte dysfunction, rare

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
velopharyngeal insufficiency
small open mouth
pharyngeal hypotonia

Neurologic Behavioral Psychiatric Manifestations:
paranoia
autistic features
aggression
blunt or inappropriate affect
psychotic illness
more
Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
congenital abnormality in 85%

Neurologic Central Nervous System:
mental retardation
learning disability

Voice:
nasal voice

Respiratory Lung:
primary pulmonary dysgenesis, unilateral (reported in 2 unrelated patients)

Endocrine Features:
neonatal hypocalcemia, rare

Laboratory Abnormalities:
monosomy for 22q11


Clinical features from OMIM:

192430

Human phenotypes related to Velocardiofacial Syndrome:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 inguinal hernia 32 HP:0000023
4 delayed speech and language development 32 HP:0000750
5 umbilical hernia 32 HP:0001537
6 microcephaly 32 HP:0000252
7 short stature 32 HP:0004322
8 cleft palate 32 HP:0000175
9 retrognathia 32 HP:0000278
10 specific learning disability 32 HP:0001328
11 underdeveloped nasal alae 32 HP:0000430
12 abnormality of the endocrine system 32 HP:0000818
13 paranoia 32 HP:0011999
14 aggressive behavior 32 HP:0000718
15 open mouth 32 HP:0000194
16 posterior embryotoxon 32 HP:0000627
17 tetralogy of fallot 32 HP:0001636
18 bulbous nose 32 HP:0000414
19 nasal speech 32 HP:0001611
20 ventricular septal defect 32 HP:0001629
21 hypocalcemia 32 HP:0002901
22 impaired t cell function 32 occasional (7.5%) HP:0005435
23 recurrent infections 32 HP:0002719
24 abnormality of the hand 32 HP:0001155
25 blepharophimosis 32 HP:0000581
26 retinal vascular tortuosity 32 HP:0012841
27 decrease in t cell count 32 HP:0005403
28 pierre-robin sequence 32 HP:0000201
29 abnormal heart morphology 32 HP:0001627
30 velopharyngeal insufficiency 32 HP:0000220
31 abnormality of the ear 32 HP:0000598
32 narrow palpebral fissure 32 HP:0045025
33 mood swings 32 HP:0000720
34 right aortic arch with mirror image branching 32 HP:0002627
35 unilateral primary pulmonary dysgenesis 32 HP:0006549
Sources

Drugs & Therapeutics for Velocardiofacial Syndrome

About this section

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Central Nervous System Stimulants Phase 4
5 Psychotropic Drugs Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Antagonists Phase 4
8 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
9 Antipsychotic Agents Phase 4
10 Serotonin Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
12 Serotonin Antagonists Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Dopamine Uptake Inhibitors Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
23
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
24
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
25
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
28
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
29
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
30
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
31
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
32
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
33
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
34
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
35 Hormones Phase 1, Phase 2
36 Immunosuppressive Agents Phase 2,Phase 1
37 Antimetabolites Phase 2
38 Immunologic Factors Phase 2,Phase 1
39 Antimetabolites, Antineoplastic Phase 2
40 Alkylating Agents Phase 2
41 Antineoplastic Agents, Alkylating Phase 2
42 Anesthetics Phase 2,Phase 1
43 Hormone Antagonists Phase 1, Phase 2
44 Immunoglobulins Phase 1, Phase 2,Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
48 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
49 Histamine Antagonists Phase 1, Phase 2
50 Methylprednisolone acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
5 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
6 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
7 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
8 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
9 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
10 This Study Tests BI 685509 in Healthy Chinese and Japanese Men; the Study Tests How Different Doses of BI 685509 Are Taken up in the Body and How Well They Are Tolerated Completed NCT03259464 Phase 1 BI 685509;Placebo
11 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
12 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
13 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
14 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
15 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
16 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
17 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Unknown status NCT02890472
18 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
19 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
20 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
21 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
22 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
23 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
24 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
25 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
26 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
27 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
28 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
29 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
30 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
31 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
32 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
33 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
34 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
35 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
36 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

Search NIH Clinical Center for Velocardiofacial Syndrome

Sources

Genetic Tests for Velocardiofacial Syndrome

About this section

Genetic tests related to Velocardiofacial Syndrome:

# Genetic test Affiliating Genes
1 Shprintzen Syndrome 29 DGCR2 DGCR6 DGCR8 ESS2 TBX1
Sources

Anatomical Context for Velocardiofacial Syndrome

About this section

MalaCards organs/tissues related to Velocardiofacial Syndrome:

41
Heart, Kidney, Thymus, T Cells, Brain, Eye, Myeloid
Sources

Publications for Velocardiofacial Syndrome

About this section

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 219)
# Title Authors Year
1
Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients: Implications in Velopharyngeal Incompetence and Pharyngeal Flap Surgery. ( 29554449 )
2018
2
Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty. ( 29863556 )
2018
3
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. ( 30410196 )
2018
4
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. ( 28059126 )
2017
5
Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis. ( 26864886 )
2016
6
Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty. ( 27732116 )
2016
7
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease. ( 26409294 )
2015
8
Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging. ( 26031215 )
2015
9
Extensive pneumatization of the ethmoid sinus in a case of velocardiofacial syndrome. ( 24366697 )
2013
10
Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit/hyperactivity disorder: A pilot study. ( 24377834 )
2013
11
Internal carotid artery variations in velocardiofacial syndrome patients and its implications for surgery. ( 23969952 )
2013
12
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. ( 23342150 )
2013
13
Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. ( 23000736 )
2012
14
Cognitive phenotype of velocardiofacial syndrome: a review. ( 21764255 )
2011
15
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 21200182 )
2011
16
Discussion. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532432 )
2011
17
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. ( 22149470 )
2011
18
Dental development and tooth agenesis in children with velocardiofacial syndrome. ( 21689177 )
2011
19
A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). ( 21863400 )
2011
20
Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. ( 21820188 )
2011
21
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532431 )
2011
22
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. ( 21602040 )
2011
23
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. ( 21305558 )
2011
24
Speech outcomes and velopharyngeal function after surgical treatment of velopharyngeal insufficiency in individuals with signs of velocardiofacial syndrome. ( 21959422 )
2011
25
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. ( 21195387 )
2011
26
An algorithm for application of furlow palatoplasty to the treatment of velocardiofacial syndrome-associated velopharyngeal insufficiency. ( 21451369 )
2011
27
Velocardiofacial syndrome presenting as chronic mania. ( 21105957 )
2010
28
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. ( 20503320 )
2010
29
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). ( 20125192 )
2010
30
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 20472505 )
2010
31
Quality of life among children with velocardiofacial syndrome. ( 20426676 )
2010
32
Craniofacial morphology in patients with velocardiofacial syndrome. ( 20426673 )
2010
33
Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. ( 20410726 )
2010
34
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. ( 19307682 )
2009
35
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? ( 19695908 )
2009
36
Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. ( 19299897 )
2009
37
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ( 19819113 )
2009
38
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. ( 20030804 )
2009
39
Stranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology. ( 19855217 )
2009
40
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. ( 19816377 )
2009
41
Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. ( 19720406 )
2009
42
Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. ( 19881378 )
2009
43
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. ( 19376197 )
2009
44
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). ( 19302762 )
2009
45
Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. ( 18333642 )
2008
46
Clicks produced as compensatory articulations in two adolescents with velocardiofacial syndrome. ( 18616363 )
2008
47
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. ( 18424337 )
2008
48
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. ( 18162840 )
2008
49
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. ( 18788013 )
2008
50
Through-and-through dissection of the soft palate for high pharyngeal flap inset: a new technique for the treatment of velopharyngeal incompetence in velocardiofacial syndrome. ( 18766049 )
2008
Sources

Variations for Velocardiofacial Syndrome

About this section

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

75
# Symbol AA change Variation ID SNP ID
1 TBX1 p.Phe148Tyr VAR_035025 rs28939675
2 TBX1 p.His194Gln VAR_035026 rs74315522

ClinVar genetic disease variations for Velocardiofacial Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 TBX1, 23-BP DEL, NT1320 deletion Pathogenic
2 TBX1 NM_080647.1(TBX1): c.582C> G (p.His194Gln) single nucleotide variant Pathogenic rs74315522 GRCh37 Chromosome 22, 19751747: 19751747
3 TBX1 NM_080647.1(TBX1): c.582C> G (p.His194Gln) single nucleotide variant Pathogenic rs74315522 GRCh38 Chromosome 22, 19764224: 19764224

Copy number variations for Velocardiofacial Syndrome from CNVD:

7 (show all 36)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17383 1 142600000 147000000 Deletion Velocardiofacial syndrome
2 39937 10 12200000 17300000 Deletion Velocardiofacial syndrome
3 81487 14 103000000 106368585 Deletion 22q11 deletion syndrome
4 91520 15 31200000 33600000 Deletion Velocardiofacial syndrome
5 160191 22 1 49691432 Microdeletion COMT Velocardiofacial syndrome
6 160192 22 1 49691432 Microdeletion PRODH Velocardiofacial syndrome
7 160193 22 1 49691432 Microdeletion TBX1 Velocardiofacial syndrome
8 160194 22 1 49691432 Microdeletion ZDHHC8 Velocardiofacial syndrome
9 160212 22 11800000 24300000 Deletion 22q11 deletion syndrome
10 160213 22 11800000 24300000 Deletion 22q11 deletion syndrome
11 160214 22 11800000 24300000 Deletion 22q11 deletion syndrome
12 160232 22 11800000 24300000 Deletion CF798466 22q11 deletion syndrome
13 160234 22 11800000 24300000 Deletion COMT 22q11 deletion syndrome
14 160239 22 11800000 24300000 Deletion D22S936 22q11 deletion syndrome
15 160246 22 11800000 24300000 Deletion HIC2 22q11 deletion syndrome
16 160247 22 11800000 24300000 Deletion PRODH 22q11 deletion syndrome
17 160252 22 11800000 24300000 Deletion SLC7A4 22q11 deletion syndrome
18 160253 22 11800000 24300000 Deletion TBX1 22q11 deletion syndrome
19 160256 22 11800000 24300000 Deletion USP18 22q11 deletion syndrome
20 160269 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
21 160270 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
22 160280 22 11800000 24300000 Microdeletions 22q11 deletion syndrome
23 160321 22 14433273 18691904 Deletion 22q11 deletion syndrome
24 160799 22 16300000 24300000 Deletion Velocardiofacial syndrome
25 160800 22 16300000 24300000 Deletion Velocardiofacial syndrome
26 160801 22 16300000 24300000 Deletion Velocardiofacial syndrome
27 160845 22 16300000 24300000 Microdeletion Velocardiofacial syndrome
28 160856 17 56832038 56841609 Microdeletion TBX2 Velocardiofacial syndrome
29 161248 22 17900000 25900000 Deletion Velocardiofacial syndrome
30 240296 8 48489083 49598587 Microdeletion AK095778 22q11 deletion syndrome
31 240297 8 48489083 49598587 Microdeletion CEBPD 22q11 deletion syndrome
32 240298 8 48489083 49598587 Microdeletion KIAA0146 22q11 deletion syndrome
33 240299 8 48489083 49598587 Microdeletion MCM4 22q11 deletion syndrome
34 240300 8 48489083 49598587 Microdeletion PRKDC 22q11 deletion syndrome
35 240301 8 48489083 49598587 Microdeletion UBE2V2 22q11 deletion syndrome
36 240537 8 51277581 52080057 Microdeletion SNTG1 22q11 deletion syndrome
Sources

Expression for Velocardiofacial Syndrome

About this section
Search GEO for disease gene expression data for Velocardiofacial Syndrome.
Sources

Pathways for Velocardiofacial Syndrome

About this section

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

# Super pathways Score Top Affiliating Genes
1
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.78 GP1BA GP1BB GP9
2
ECM-receptor interaction 37
Show member pathways
 11.72 GP1BA GP1BB GP9
3
Platelet activation 37
11.59 GP1BA GP1BB GP9
4
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.42 GP1BA GP1BB GP9
5
Hematopoietic cell lineage 37
11.32 GP1BA GP1BB GP9
6
Platelet Adhesion to exposed collagen 66
10.25 GP1BA GP1BB GP9
7
GP1b-IX-V activation signalling 66
9.8 GP1BA GP1BB GP9
Sources

GO Terms for Velocardiofacial Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.58 GP1BA GP1BB GP9
2 anatomical structure morphogenesis GO:0009653 9.5 GSC2 HIRA MRPL40
3 platelet activation GO:0030168 9.43 GP1BA GP1BB GP9
4 cell adhesion GO:0007155 9.43 ARVCF DGCR2 DGCR6 GP1BA GP1BB GP9
5 face morphogenesis GO:0060325 9.37 CLDN5 TBX1
6 hemostasis GO:0007599 9.33 GP1BA GP1BB GP9
7 blood coagulation, intrinsic pathway GO:0007597 8.8 GP1BA GP1BB GP9
Sources

Sources for Velocardiofacial 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
Content
Loading form....