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VCFS
MCID: VLC001
MIFTS: 56

Velocardiofacial Syndrome (VCFS)

Categories: Cardiovascular diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Velocardiofacial Syndrome

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MalaCards integrated aliases for Velocardiofacial Syndrome:

Name: Velocardiofacial Syndrome 58 12 77 76 38 13 56 15 41
Shprintzen Syndrome 12 77 30 6 74
Chromosome 22q11.2 Deletion Syndrome 58 76
Shprintzen Vcf Syndrome 58 76
22q11 Deletion Syndrome 12 74
Vcf Syndrome 58 76
Vcfs 58 76
Conotruncal Anomaly Face Syndrome 74
Vcf-Velocardiofacial Syndrome 12
Velo-Cardio-Facial Syndrome 76
Deletion 22q11.2 Syndrome 12
Vcf Syndrome; Vcfs 58
Digeorge Syndrome 74

Characteristics:

OMIM:

58
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:

33
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 : 76 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 Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include thymus, kidney and t cells, 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 : 77 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

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 31.0 ARVCF COMT DGCR DGCR2 DGCR5 DGCR6
2 thrombocytopenia 30.5 GP1BA GP1BB GP9
3 bernard-soulier syndrome 30.0 GP1BA GP1BB GP9
4 hyperprolinemia 30.0 COMT PRODH
5 tetralogy of fallot 29.9 DGCR HIRA TBX1 UFD1
6 goldberg-shprintzen syndrome 12.6
7 chromosome 22q11.2 deletion syndrome, distal 12.6
8 digeorge syndrome/velocardiofacial syndrome complex 2 12.3
9 opitz gbbb syndrome, type ii 11.5
10 mowat-wilson syndrome 11.3
11 oligomeganephronia 11.2
12 chromosome 8p23.1 deletion 11.1
13 learning disability 10.4
14 fetal and neonatal alloimmune thrombocytopenia 10.3 GP1BA GP1BB
15 major affective disorder 1 10.3
16 prader-willi syndrome 10.3
17 oculocerebral syndrome with hypopigmentation 10.3
18 cognitive function 1, social 10.3
19 major affective disorder 8 10.3
20 major affective disorder 7 10.3
21 major affective disorder 9 10.3
22 supernumerary der(22)t(8 10.3
23 holoprosencephaly 10.3
24 pemphigus foliaceus 10.3
25 myelomeningocele 10.3
26 ventricular septal defect 10.3
27 mood disorder 10.3
28 polyhydramnios 10.3
29 pemphigus 10.3
30 pseudo-von willebrand disease 10.2 GP1BA GP1BB GP9
31 inherited blood coagulation disease 10.2 GP1BA GP1BB GP9
32 hirschsprung disease 1 10.2
33 blood coagulation disease 10.2 GP1BA GP1BB GP9
34 blood platelet disease 10.2 GP1BA GP1BB GP9
35 palatopharyngeal incompetence 10.2
36 schizophrenia 10.2
37 xp22.3 microdeletion syndrome 10.2
38 autosomal dominant macrothrombocytopenia 10.2 GP1BA GP1BB
39 attention deficit-hyperactivity disorder 10.1
40 pol iii-related leukodystrophies 10.1
41 heart disease 10.1
42 evans' syndrome 10.1
43 lung agenesis 10.1
44 microcephaly 10.1
45 immunoglobulin alpha deficiency 10.0
46 autism 10.0
47 disorganization, mouse, homolog of 10.0
48 arthritis 10.0
49 thrombasthenia 10.0 GP1BA GP9
50 coloboma of macula 9.9

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



Diseases related to Velocardiofacial Syndrome
Sources

Symptoms & Phenotypes for Velocardiofacial Syndrome

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Human phenotypes related to Velocardiofacial Syndrome:

33 (show all 40)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 muscular hypotonia 33 very rare (1%) HP:0001252
3 inguinal hernia 33 very rare (1%) HP:0000023
4 umbilical hernia 33 very rare (1%) HP:0001537
5 short stature 33 very rare (1%) HP:0004322
6 cryptorchidism 33 very rare (1%) HP:0000028
7 hypoparathyroidism 33 very rare (1%) HP:0000829
8 tetralogy of fallot 33 very rare (1%) HP:0001636
9 hypocalcemia 33 very rare (1%) HP:0002901
10 impaired t cell function 33 very rare (1%) HP:0005435
11 talipes 33 very rare (1%) HP:0001883
12 interrupted aortic arch 33 very rare (1%) HP:0011611
13 submucous cleft hard palate 33 very rare (1%) HP:0000176
14 pulmonary artery atresia 33 very rare (1%) HP:0004935
15 velopharyngeal insufficiency 33 very rare (1%) HP:0000220
16 double aortic arch 33 very rare (1%) HP:0011590
17 delayed speech and language development 33 HP:0000750
18 microcephaly 33 HP:0000252
19 retrognathia 33 HP:0000278
20 specific learning disability 33 HP:0001328
21 underdeveloped nasal alae 33 HP:0000430
22 paranoia 33 HP:0011999
23 aggressive behavior 33 HP:0000718
24 open mouth 33 HP:0000194
25 posterior embryotoxon 33 HP:0000627
26 bulbous nose 33 HP:0000414
27 nasal speech 33 HP:0001611
28 ventricular septal defect 33 HP:0001629
29 recurrent infections 33 HP:0002719
30 abnormality of the hand 33 HP:0001155
31 blepharophimosis 33 HP:0000581
32 retinal vascular tortuosity 33 HP:0012841
33 decrease in t cell count 33 HP:0005403
34 pierre-robin sequence 33 HP:0000201
35 abnormal heart morphology 33 HP:0001627
36 narrow palpebral fissure 33 HP:0045025
37 abnormality of the ear 33 HP:0000598
38 mood swings 33 HP:0000720
39 right aortic arch with mirror image branching 33 HP:0002627
40 unilateral primary pulmonary dysgenesis 33 HP:0006549

Symptoms via clinical synopsis from OMIM:

58
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
mood swings
autistic features
aggression
blunt or inappropriate affect
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
Sources

Drugs & Therapeutics for Velocardiofacial Syndrome

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Early Phase 1 62-31-7, 51-61-6 681
2
Risperidone Approved, Investigational Phase 4,Early Phase 1 106266-06-2 5073
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Dopamine Uptake Inhibitors Phase 4
5 Psychotropic Drugs Phase 4,Early Phase 1
6 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
7 Dopamine Antagonists Phase 4,Early Phase 1
8 Serotonin Antagonists Phase 4,Early Phase 1
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Agents Phase 4,Early Phase 1
12 Tranquilizing Agents Phase 4,Early Phase 1
13 Antipsychotic Agents Phase 4,Early Phase 1
14 Serotonin Agents Phase 4,Early Phase 1
15 Central Nervous System Depressants Phase 4,Phase 1,Phase 2,Early Phase 1
16
Serotonin Investigational, Nutraceutical Phase 4,Early Phase 1 50-67-9 5202
17
Parathyroid hormone Approved, Investigational Phase 3,Phase 2,Phase 1 9002-64-6
18
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1 7440-70-2 271
19 Calcium, Dietary Phase 3,Phase 2,Phase 1
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Melphalan Approved Phase 2 148-82-3 460612 4053
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
25
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
26
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
27
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
28
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
29
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
31
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
32
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
33
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
34
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Hormones Phase 2,Phase 1
38 Immunosuppressive Agents Phase 2,Phase 1
39 Antineoplastic Agents, Alkylating Phase 2
40 Antineoplastic Agents, Immunological Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Immunologic Factors Phase 2,Phase 1
44 Alkylating Agents Phase 2
45 Peripheral Nervous System Agents Phase 1, Phase 2,Early Phase 1
46 Analgesics Phase 1, Phase 2,Early Phase 1
47 Anesthetics Phase 2,Phase 1
48 Antineoplastic Agents, Hormonal Phase 1, Phase 2
49 Protective Agents Phase 1, Phase 2
50 Cyclosporins Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show all 37)
# 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 Reducing the Abuse of Opioids in Drug Users Recruiting NCT03837860 Early Phase 1 Oxycodone/Placebo;Oxycodone/Risperidone;Oxycodone/Ziprasidone
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 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457
36 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
37 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 30 DGCR2 DGCR6 DGCR8 ESS2 TBX1
Sources

Anatomical Context for Velocardiofacial Syndrome

About this section

MalaCards organs/tissues related to Velocardiofacial Syndrome:

42
Thymus, Kidney, T Cells, Testes, Brain, Myeloid, Whole Blood
Sources

Publications for Velocardiofacial Syndrome

About this section

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 234)
# Title Authors Year
1
A Case of Velocardiofacial Syndrome With Bilateral Inferior Punctum and Canalicular Agenesis. ( 30908465 )
2019
2
Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients: Implications in Velopharyngeal Incompetence and Pharyngeal Flap Surgery. ( 29554449 )
2018
3
Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty. ( 29863556 )
2018
4
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. ( 30410196 )
2018
5
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. ( 28277559 )
2017
6
Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis. ( 26864886 )
2017
7
Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty. ( 27732116 )
2017
8
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. ( 28059126 )
2017
9
Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging. ( 26031215 )
2015
10
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease. ( 26409294 )
2015
11
Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit/hyperactivity disorder: a pilot study. ( 24377834 )
2014
12
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. ( 23427148 )
2013
13
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. ( 23342150 )
2013
14
Internal carotid artery variations in velocardiofacial syndrome patients and its implications for surgery. ( 23969952 )
2013
15
Extensive pneumatization of the ethmoid sinus in a case of velocardiofacial syndrome. ( 24366697 )
2013
16
Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. ( 23000736 )
2012
17
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 21200182 )
2011
18
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
19
Dental development and tooth agenesis in children with velocardiofacial syndrome. ( 21689177 )
2011
20
An algorithm for application of furlow palatoplasty to the treatment of velocardiofacial syndrome-associated velopharyngeal insufficiency. ( 21451369 )
2011
21
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532431 )
2011
22
Discussion. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532432 )
2011
23
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. ( 21602040 )
2011
24
Cognitive phenotype of velocardiofacial syndrome: a review. ( 21764255 )
2011
25
Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. ( 21820188 )
2011
26
Speech outcomes and velopharyngeal function after surgical treatment of velopharyngeal insufficiency in individuals with signs of velocardiofacial syndrome. ( 21959422 )
2011
27
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. ( 22149470 )
2011
28
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. ( 21195387 )
2011
29
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. ( 21305558 )
2011
30
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 20472505 )
2010
31
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). ( 20125192 )
2010
32
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. ( 20621975 )
2010
33
Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. ( 20410726 )
2010
34
Craniofacial morphology in patients with velocardiofacial syndrome. ( 20426673 )
2010
35
Quality of life among children with velocardiofacial syndrome. ( 20426676 )
2010
36
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. ( 20503320 )
2010
37
Velocardiofacial syndrome presenting as chronic mania. ( 21105957 )
2010
38
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. ( 19376197 )
2009
39
Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. ( 19299897 )
2009
40
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). ( 19302762 )
2009
41
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. ( 19307682 )
2009
42
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? ( 19695908 )
2009
43
Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. ( 19720406 )
2009
44
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. ( 19816377 )
2009
45
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ( 19819113 )
2009
46
Stranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology. ( 19855217 )
2009
47
Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. ( 19881378 )
2009
48
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. ( 20030804 )
2009
49
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. ( 18179902 )
2008
50
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. ( 18424337 )
2008
Sources

Variations for Velocardiofacial Syndrome

About this section

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

76
# 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
4 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh38 Chromosome 22, 19766428: 19766428
5 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh37 Chromosome 22, 19753951: 19753951
6 TBX1 NM_080647.1(TBX1): c.324C> T (p.Ala108=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19748717: 19748717
7 TBX1 NM_080647.1(TBX1): c.324C> T (p.Ala108=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19761194: 19761194

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

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

Pathways for Velocardiofacial Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.78 GP1BA GP1BB GP9
2
ECM-receptor interaction 38
Show member pathways
 11.73 GP1BA GP1BB GP9
3
Platelet activation 38
11.59 GP1BA GP1BB GP9
4
Integrin alphaIIb beta3 signaling 67
Show member pathways
 11.42 GP1BA GP1BB GP9
5
Hematopoietic cell lineage 38
11.32 GP1BA GP1BB GP9
6
Platelet Adhesion to exposed collagen 67
10.25 GP1BA GP1BB GP9
7
GP1b-IX-V activation signalling 67
9.8 GP1BA GP1BB GP9
Sources

GO Terms for Velocardiofacial Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.43 GP1BA GP1BB GP9
2 cell adhesion GO:0007155 9.43 ARVCF DGCR2 DGCR6 GP1BA GP1BB GP9
3 hemostasis GO:0007599 9.33 GP1BA GP1BB GP9
4 face morphogenesis GO:0060325 9.32 CLDN5 TBX1
5 blood coagulation, intrinsic pathway GO:0007597 8.8 GP1BA GP1BB GP9
Sources

Sources for Velocardiofacial Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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