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VCFS
MCID: VLC001
MIFTS: 57

Velocardiofacial Syndrome (VCFS)

Categories: Cardiovascular diseases, Genetic diseases, Immune 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 57 12 73 72 36 13 54 15 39
Shprintzen Syndrome 12 73 29 6 70
22q11 Deletion Syndrome 12 6 70
Chromosome 22q11.2 Deletion Syndrome 57 72
Shprintzen Vcf Syndrome 57 72
Vcf Syndrome 57 72
Vcfs 57 72
Conotruncal Anomaly Face Syndrome 70
Vcf-Velocardiofacial Syndrome 12
Velo-Cardio-Facial Syndrome 72
Deletion 22q11.2 Syndrome 12
Digeorge Syndrome 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
velocardiofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Sources

Summaries for Velocardiofacial Syndrome

About this section
UniProtKB/Swiss-Prot : 72 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 heart septal defect. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways are Platelet Adhesion to exposed collagen and GP1b-IX-V activation signalling. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and brain, and related phenotypes are intellectual disability and inguinal hernia

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

KEGG : 36 Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia.

Wikipedia : 73 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a... more...

More information 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 292)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 32.6 UFD1 TBX1 SLC25A1 PRODH MRPL40 HIRA
2 heart septal defect 31.0 TBX1 PRODH HIRA DGCR5
3 hyperprolinemia 30.9 PRODH DGCR5 COMT
4 atrial heart septal defect 30.9 TBX1 PRODH HIRA
5 tetralogy of fallot 30.8 UFD1 TBX1 PRODH HIRA GP1BB DGCR2
6 bernard-soulier syndrome 30.7 PRODH GP9 GP1BB
7 hyperprolinemia, type i 30.6 PRODH DGCR5 DGCR2
8 chromosomal deletion syndrome 30.6 UFD1 TBX1 PRODH HIRA DGCR8 DGCR5
9 schizophreniform disorder 30.5 PRODH COMT
10 phobia, specific 30.4 PRODH COMT
11 chromosome 22q11.2 duplication syndrome 30.4 UFD1 TBX1 PRODH HIRA DGCR5
12 schizotypal personality disorder 30.3 PRODH COMT
13 goldberg-shprintzen syndrome 11.6
14 opitz gbbb syndrome, type ii 11.5
15 digeorge syndrome/velocardiofacial syndrome complex 2 11.4
16 mowat-wilson syndrome 11.2
17 oligomeganephronia 11.1
18 chromosome 22q11.2 deletion syndrome, distal 11.0
19 chromosome 8p23.1 deletion 11.0
20 cleft palate, isolated 10.6
21 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.5 TBX1 PRODH GP1BB
22 acrokeratoderma, hereditary papulotranslucent 10.5 GP9 GP1BB
23 ichthyosis, congenital, autosomal recessive 9 10.5 TBX1 HIRA COMT
24 van den ende-gupta syndrome 10.5 PRODH GP1BB DGCR2
25 chromosome 6q24-q25 deletion syndrome 10.5 SLC25A1 PRODH MRPL40
26 myh-9 related disease 10.5 GP9 GP1BB
27 opitz-gbbb syndrome 10.5 TBX1 PRODH GP1BB
28 thymic dysplasia 10.5 PRODH HIRA
29 tricuspid atresia 10.5 TBX1 PRODH
30 pseudo-von willebrand disease 10.5 GP9 GP1BB
31 learning disability 10.5
32 patent ductus arteriosus 1 10.4 TBX1 PRODH HIRA
33 t-cell immunodeficiency with thymic aplasia 10.4 TBX1 PRODH HIRA DGCR5
34 orofacial cleft 10.4 TBX1 PRODH HIRA DGCR5
35 specific developmental disorder 10.4 PRODH DGCR5 COMT
36 cannabis abuse 10.4 PRODH COMT
37 blood platelet disease 10.4 PRODH GP9 GP1BB
38 heparin cofactor ii deficiency 10.4 SLC7A4 PRODH
39 attention deficit-hyperactivity disorder 10.4
40 chromosomal disease 10.4 TBX1 PRODH HIRA DGCR8 DGCR5 COMT
41 blood coagulation disease 10.4 PRODH GP9 GP1BB
42 dysthymic disorder 10.3 PRODH COMT
43 hirschsprung disease 1 10.3
44 thrombocytopenia 10.3
45 combined d-2- and l-2-hydroxyglutaric aciduria 10.3 SLC25A1 PRODH
46 major affective disorder 1 10.3
47 laryngeal web, familial 10.3
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
49 polymicrogyria 10.3
50 hypoparathyroidism 10.3

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Voice:
nasal voice

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

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
congenital abnormality in 85%

Neurologic Behavioral Psychiatric Manifestations:
paranoia
mood swings
autistic features
aggression
blunt or inappropriate affect
more
Neurologic Central Nervous System:
mental retardation
learning disability

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

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 (Updated 05-Apr-2021)

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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5 Central Nervous System Stimulants Phase 4
6 Psychotropic Drugs Phase 4
7 Dopamine Agents Phase 4
8 Neurotransmitter Agents Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Antipsychotic Agents Phase 4
11 Dopamine Antagonists Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
14
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
15
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
17 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
18 Omega 3 Fatty Acid Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3
20 Tocopherols Phase 2, Phase 3
21 Tocotrienols Phase 2, Phase 3
22 Calcium, Dietary Phase 3
23
Calcium Nutraceutical Phase 3 7440-70-2 271
24
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
25
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
26
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
27
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
28
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
29
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
30
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
31
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
32
Melphalan Approved Phase 2 148-82-3 4053 460612
33
alemtuzumab Approved, Investigational Phase 2 216503-57-0
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
36 Hormones Phase 1, Phase 2
37 Immunosuppressive Agents Phase 1, Phase 2
38 Immunologic Factors Phase 1, Phase 2
39 Antibiotics, Antitubercular Phase 1, Phase 2
40 Neuroprotective Agents Phase 1, Phase 2
41 Gastrointestinal Agents Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Hormone Antagonists Phase 1, Phase 2
44 Antiemetics Phase 1, Phase 2
45 Antirheumatic Agents Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Anti-Bacterial Agents Phase 1, Phase 2
48 glucocorticoids Phase 1, Phase 2
49 Antitubercular Agents Phase 1, Phase 2
50 Dermatologic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Study of Curette Use for Obtaining Restoration of Vertebral Body Anatomy in Balloon Kyphoplasty Completed NCT00810043 Phase 4
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Prospective Randomized Investigation of Radiofrequency Targeted Vertebral Augmentation (The PRIORi-T Trial) Withdrawn NCT01480167 Phase 4
4 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome Genetically at High Risk for Psychosis: A Randomised, Double Blind, Placebo-controlled Treatment Trial. Unknown status NCT02070211 Phase 2, Phase 3
5 VertebrOpLasty Versus Conservative Treatment in Acute Non Osteoporotic Vertebral Fractures Completed NCT01643395 Phase 3
6 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
7 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
8 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
9 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
10 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
11 A Double-Blind, Placebo-Controlled, Multi-Center, Randomized Trial of the Safety and Efficacy of Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velo-Cardio-Facial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
12 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
13 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
14 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
15 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
16 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
17 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
18 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
19 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
20 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
21 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
22 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
23 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
24 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
25 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
26 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
27 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Completed NCT04141540
28 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
29 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
30 A Multicenter, Prospective, Randomized, Controlled Study to Compare Balloon Kyphoplasty to Non-surgical Fracture Management in the Treatment of Painful, Acute Vertebral Body Compression Fractures in Cancer Patients Completed NCT00211237
31 A Prospective, Multicenter, Randomized, Comparative Clinical Study to Compare the Safety and Effectiveness of Two Vertebral Compression Fracture (VCF) Reduction Techniques: the SpineJack® and the KyphX Xpander® Inflatable Bone Tamp Completed NCT02461810
32 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
33 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
34 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04639960 Risperdal;Placebo
35 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
36 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04647500 Concerta
37 Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities? Recruiting NCT04470739
38 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
39 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
40 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
41 Motor Impairments in Children With Autism Spectrum Disorder: a Multimodal Approach Recruiting NCT04769011
42 Whole Blood Specimen Collection From Pregnant Subjects Active, not recruiting NCT02430584
43 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
44 A Prospective Multi-Center Study of the AGN1 Local Osteo-Enhancement Procedure (LOEP) SV Kit in Patients With Vertebral Compression Fractures (VCFs) Not yet recruiting NCT04821739
45 Evaluation of the Technical Success of Intravascular Ultrasound (IVUS) Guided Vena Cava Filter (VCF) Placement Using the LUMIFIâ„¢ With Crux® VCF System (LUMIFI Clinical Study) Terminated NCT02394912
46 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
47 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060
48 Multiple Myeloma Spinal Disease Study; A Multi-centre, Prospective, Single Blinded, Randomized, Controlled Study to Compare Conservative Management Alone Vs. Balloon Kyphoplasty With the Treatment of VCFs in Patients With Multiple Myeloma Terminated NCT02732925
49 A Multicenter, Randomized, Prospective Clinical Trial to Compare the Short- and Long-term Safety and Effectiveness of Balloon Kyphoplasty to Vertebroplasty in the Treatment of Painful, Acute Osteoporosis-related Vertebral Body Compression Fractures (VCFs). Terminated NCT00323609
50 A Pilot Study of Vertebral Augmentation With Kyphoplasty Versus Nonsurgical Management in Multiple Myeloma Patients With Mildly Symptomatic Vertebral Body Compression Fractures Withdrawn NCT01175278

Search NIH Clinical Center for Velocardiofacial Syndrome

Sources

Genetic Tests for Velocardiofacial Syndrome

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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:

40
Thymus, Heart, Brain, Bone, Whole Blood, Thyroid, Eye
Sources

Publications for Velocardiofacial Syndrome

About this section

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 645)
# Title Authors PMID Year
1
Role of TBX1 in human del22q11.2 syndrome. 6 61 57
14585638 2003
2
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 6 57
16684884 2006
3
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 61 57
20503320 2010
4
Genetic compensation in a human genomic disorder. 57 61
19297573 2009
5
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 6 61
17273972 2007
6
The velocardiofacial syndrome in older age: dementia and autistic features. 61 57
17100202 2006
7
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. 61 57
15048657 2004
8
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. 61 57
15048660 2004
9
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. 61 57
14681306 2004
10
Kousseff syndrome: a causally heterogeneous disorder. 57 61
14708106 2004
11
Primary pulmonary dysgenesis in velocardiofacial syndrome: a second patient. 57 61
12910501 2003
12
Pulmonary agenesis: expansion of the VCFS phenotype. 61 57
12400071 2002
13
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. 61 57
12081724 2002
14
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 61 57
11713452 2001
15
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 57 61
11242110 2001
16
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 57 61
11242111 2001
17
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). 61 57
11339374 2001
18
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! 57 61
11339373 2001
19
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. 57 61
10051168 1999
20
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. 61 57
9773854 1998
21
Chromosome 22q11 deletion presenting as the Potter sequence. 57 61
9152843 1997
22
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? 61 57
9032655 1997
23
Velocardiofacial syndrome: learning difficulties and intervention. 57 61
7473652 1995
24
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. 61 57
7644464 1995
25
Cerebellar atrophy in a patient with velocardiofacial syndrome. 61 57
7562973 1995
26
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. 57 61
1349369 1992
27
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. 61 57
1956057 1991
28
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. 57 61
3816857 1986
29
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
30
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
31
Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome. 57
26087175 2016
32
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. 6
25516202 2014
33
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 6
25205790 2014
34
Rare de novo copy number variants in patients with congenital pulmonary atresia. 6
24826987 2014
35
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 57
23453669 2013
36
Functional outcomes of adults with 22q11.2 deletion syndrome. 57
22744446 2012
37
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
38
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
39
Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. 57
20360742 2010
40
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. 57
19181681 2009
41
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
42
The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. 57
20162865 2009
43
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. 57
17676598 2007
44
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 57
16513880 2006
45
Clinical features of 78 adults with 22q11 Deletion Syndrome. 57
16208694 2005
46
COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. 57
15935994 2005
47
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 57
15190012 2004
48
Dermatoglyphic profile in 22q deletion syndrome. 57
15211630 2004
49
No justification of routine screening for 22q11 deletions in patients with overt cleft palate. 57
12919136 2003
50
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? 57
12539040 2003
Sources

Variations for Velocardiofacial Syndrome

About this section

ClinVar genetic disease variations for Velocardiofacial Syndrome:

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX1 TBX1, 23-BP DEL, NT1320 Deletion Pathogenic 7566 GRCh37:
GRCh38:
2 TBX1 NM_080647.1(TBX1):c.582C>G (p.His194Gln) SNV Pathogenic 7567 rs74315522 GRCh37: 22:19751747-19751747
GRCh38: 22:19764224-19764224
3 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19770565_?)del Deletion Pathogenic 455788 GRCh37: 22:18900668-19770565
GRCh38:
4 TBX1 NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) SNV Pathogenic 526036 rs1555895466 GRCh37: 22:19748685-19748685
GRCh38: 22:19761162-19761162
5 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18901004-21408430) copy number loss Pathogenic 625586 GRCh37: 22:18901004-21408430
GRCh38:
6 overlap with 28 genes GRCh37/hg19 22q11.21(chr22:18918741-20311922) copy number loss Pathogenic 625620 GRCh37: 22:18918741-20311922
GRCh38:
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss Pathogenic 625621 GRCh37: 22:18912403-21431174
GRCh38:
8 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss Pathogenic 625625 GRCh37: 22:18912870-21431174
GRCh38:
9 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss Pathogenic 625679 GRCh37: 22:18892575-21460220
GRCh38:
10 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss Pathogenic 625684 GRCh37: 22:18892575-21460220
GRCh38:
11 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss Pathogenic 625739 GRCh37: 22:18900755-21800277
GRCh38:
12 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Pathogenic 636280 GRCh37: 22:18912231-21465672
GRCh38:
13 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Pathogenic 636281 GRCh37: 22:18631364-21800471
GRCh38:
14 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Pathogenic 636282 GRCh37: 22:18922151-21449911
GRCh38:
15 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Pathogenic 636283 GRCh37: 22:18636749-21800471
GRCh38:
16 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Pathogenic 636284 GRCh37: 22:18919477-21800471
GRCh38:
17 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)del Deletion Pathogenic 640457 GRCh37: 22:19743473-19747220
GRCh38: 22:19755950-19759697
18 overlap with 16 genes NC_000022.10:g.(?_18910310)_(19770565_?)del Deletion Pathogenic 526039 GRCh37: 22:18910310-19770565
GRCh38:
19 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19783042_?)del Deletion Pathogenic 583599 GRCh37: 22:19743424-19770565
GRCh38: 22:19755901-19783042
20 overlap with 13 genes NC_000022.11:g.(?_19722428)_(19975757_?)del Deletion Pathogenic 584158 GRCh37: 22:19709951-19963280
GRCh38: 22:19722428-19975757
21 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19766877_?)del Deletion Pathogenic 660156 GRCh37: 22:19743424-19754400
GRCh38: 22:19755901-19766877
22 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Pathogenic 666443 GRCh37: 22:18661724-21505417
GRCh38:
23 overlap with 78 genes Deletion Pathogenic 812919 GRCh37: 22:18475385-23764120
GRCh38:
24 overlap with 11 genes NC_000022.10:g.(?_19163623)_(19770565_?)del Deletion Pathogenic 831644 GRCh37: 22:19163623-19770565
GRCh38:
25 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)del Deletion Pathogenic 831941 GRCh37: 22:19743424-19747210
GRCh38:
26 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss Pathogenic 915966 GRCh37: 22:18912403-21431174
GRCh38:
27 TBX1 NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) Deletion Pathogenic 949172 GRCh37: 22:19748554-19748579
GRCh38: 22:19761031-19761056
28 TBX1 NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) Insertion Pathogenic 1031062 GRCh37: 22:19754053-19754054
GRCh38: 22:19766530-19766531
29 TBX1 NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) Deletion Pathogenic 971780 GRCh37: 22:19748451-19748646
GRCh38: 22:19760928-19761123
30 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely pathogenic 973222 GRCh37: 22:19750829-19750829
GRCh38: 22:19763306-19763306
31 TBX1 NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) SNV Uncertain significance 992543 GRCh37: 22:19753948-19753948
GRCh38: 22:19766425-19766425
32 TBX1 NM_080647.1(TBX1):c.1457C>A (p.Pro486Gln) SNV Uncertain significance 586784 rs762076391 GRCh37: 22:19754359-19754359
GRCh38: 22:19766836-19766836
33 TBX1 NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser) SNV Uncertain significance 1034542 GRCh37: 22:19754220-19754220
GRCh38: 22:19766697-19766697
34 TBX1 NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 1035113 GRCh37: 22:19748584-19748584
GRCh38: 22:19761061-19761061
35 TBX1 NM_001379200.1(TBX1):c.437+3C>T SNV Uncertain significance 1036398 GRCh37: 22:19748806-19748806
GRCh38: 22:19761283-19761283
36 TBX1 NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val) SNV Uncertain significance 1037870 GRCh37: 22:19754347-19754347
GRCh38: 22:19766824-19766824
37 TBX1 NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg) SNV Uncertain significance 1040156 GRCh37: 22:19754146-19754146
GRCh38: 22:19766623-19766623
38 TBX1 NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser) SNV Uncertain significance 1042452 GRCh37: 22:19754092-19754092
GRCh38: 22:19766569-19766569
39 TBX1 NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) SNV Uncertain significance 1042720 GRCh37: 22:19754148-19754148
GRCh38: 22:19766625-19766625
40 TBX1 NC_000022.10:g.(?_19743226)_(19755855_?)dup Duplication Uncertain significance 1042800 GRCh37: 22:19743226-19755855
GRCh38:
41 TBX1 NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys) SNV Uncertain significance 1043558 GRCh37: 22:19754179-19754179
GRCh38: 22:19766656-19766656
42 TBX1 NM_080647.1(TBX1):c.125_205del (p.Glu42_His68del) Deletion Uncertain significance 636939 rs1601282938 GRCh37: 22:19748516-19748596
GRCh38: 22:19760993-19761073
43 TBX1 NM_001379200.1(TBX1):c.328G>T (p.Val110Leu) SNV Uncertain significance 1045436 GRCh37: 22:19748694-19748694
GRCh38: 22:19761171-19761171
44 TBX1 NM_080647.1(TBX1):c.1406C>T (p.Ala469Val) SNV Uncertain significance 424609 rs757867291 GRCh37: 22:19754308-19754308
GRCh38: 22:19766785-19766785
45 TBX1 NM_001379200.1(TBX1):c.538C>A (p.Arg180=) SNV Uncertain significance 1047683 GRCh37: 22:19750864-19750864
GRCh38: 22:19763341-19763341
46 TBX1 NM_001379200.1(TBX1):c.646A>G (p.Met216Val) SNV Uncertain significance 949596 GRCh37: 22:19751784-19751784
GRCh38: 22:19764261-19764261
47 TBX1 NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) SNV Uncertain significance 953719 GRCh37: 22:19754080-19754080
GRCh38: 22:19766557-19766557
48 TBX1 NM_001379200.1(TBX1):c.922G>C (p.Asp308His) SNV Uncertain significance 954595 GRCh37: 22:19753335-19753335
GRCh38: 22:19765812-19765812
49 TBX1 NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 954963 GRCh37: 22:19748676-19748676
GRCh38: 22:19761153-19761153
50 TBX1 NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) SNV Uncertain significance 955371 GRCh37: 22:19751682-19751682
GRCh38: 22:19764159-19764159

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

72
# Symbol AA change Variation ID SNP ID
1 TBX1 p.Phe148Tyr VAR_035025 rs28939675
2 TBX1 p.His194Gln VAR_035026 rs74315522

Copy number variations for Velocardiofacial Syndrome from CNVD:

7 (show all 39)
# CNVD ID Chromosome 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 160226 22 11800000 24300000 Deletion Shprintzen syndrome
13 160232 22 11800000 24300000 Deletion 22q11 deletion syndrome
14 160234 22 11800000 24300000 Deletion COMT 22q11 deletion syndrome
15 160239 22 11800000 24300000 Deletion 22q11 deletion syndrome
16 160246 22 11800000 24300000 Deletion HIC2 22q11 deletion syndrome
17 160247 22 11800000 24300000 Deletion PRODH 22q11 deletion syndrome
18 160252 22 11800000 24300000 Deletion SLC7A4 22q11 deletion syndrome
19 160253 22 11800000 24300000 Deletion TBX1 22q11 deletion syndrome
20 160256 22 11800000 24300000 Deletion USP18 22q11 deletion syndrome
21 160267 22 11800000 24300000 Microdeletion Shprintzen syndrome
22 160269 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
23 160270 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
24 160280 22 11800000 24300000 Microdeletions 22q11 deletion syndrome
25 160321 22 14433273 18691904 Deletion 22q11 deletion syndrome
26 160799 22 16300000 24300000 Deletion Velocardiofacial syndrome
27 160800 22 16300000 24300000 Deletion Velocardiofacial syndrome
28 160801 22 16300000 24300000 Deletion Velocardiofacial syndrome
29 160841 22 16300000 24300000 Microdeletion Shprintzen syndrome
30 160845 22 16300000 24300000 Microdeletion Velocardiofacial syndrome
31 160856 17 56832038 56841609 Microdeletion TBX2 Velocardiofacial syndrome
32 161248 22 17900000 25900000 Deletion Velocardiofacial syndrome
33 240296 8 48489083 49598587 Microdeletion 22q11 deletion syndrome
34 240297 8 48489083 49598587 Microdeletion CEBPD 22q11 deletion syndrome
35 240298 8 48489083 49598587 Microdeletion SPIDR 22q11 deletion syndrome
36 240299 8 48489083 49598587 Microdeletion MCM4 22q11 deletion syndrome
37 240300 8 48489083 49598587 Microdeletion PRKDC 22q11 deletion syndrome
38 240301 8 48489083 49598587 Microdeletion UBE2V2 22q11 deletion syndrome
39 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.
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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
Platelet Adhesion to exposed collagen 65
10.07 GP9 GP1BB
2
GP1b-IX-V activation signalling 65
9.62 GP9 GP1BB
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 anatomical structure morphogenesis GO:0009653 9.33 MRPL40 HIRA GSC2
2 face morphogenesis GO:0060325 9.26 TBX1 CLDN5
3 cell adhesion GO:0007155 9.1 GP9 GP1BB DGCR6 DGCR2 CLDN5 ARVCF
4 blood coagulation, intrinsic pathway GO:0007597 8.96 GP9 GP1BB
Sources

Sources for Velocardiofacial Syndrome

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