VCFS
MCID: VLC001
MIFTS: 52

Velocardiofacial Syndrome (VCFS)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Mental diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Velocardiofacial Syndrome

MalaCards integrated aliases for Velocardiofacial Syndrome:

Name: Velocardiofacial Syndrome 57 11 75 73 28 12 53 5 14 38
Shprintzen Syndrome 11 75 71
Chromosome 22q11.2 Deletion Syndrome 57 73
Shprintzen Vcf Syndrome 57 73
Vcf Syndrome 57 73
Vcfs 57 73
Conotruncal Anomaly Face Syndrome 71
Vcf-Velocardiofacial Syndrome 11
Velo-Cardio-Facial Syndrome 73
22q11 Deletion Syndrome 71
Digeorge Syndrome 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
overlapping features of digeorge syndrome
incidence is estimated to be between 1 in 2,000 to 1 in 7,000 live births


Classifications:



Summaries for Velocardiofacial Syndrome

UniProtKB/Swiss-Prot: 73 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 chromosome 22q11.2 deletion syndrome, distal and digeorge syndrome/velocardiofacial syndrome complex 2. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Fluoxetine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and kidney, and related phenotypes are intellectual disability and hypotonia

Disease Ontology: 11 A chromosomal deletion disease that has material basis in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.

Wikipedia: 75 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on... more...

More information from OMIM: 192430

Related Diseases for Velocardiofacial Syndrome

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 chromosome 22q11.2 deletion syndrome, distal 32.8 UFD1 TBX1 PRODH MRPL40 MIR185 HIRA
2 digeorge syndrome/velocardiofacial syndrome complex 2 32.7 DGS2 DGCR2
3 digeorge syndrome 32.0 UFD1 TBX1 PRODH MRPL40 MIR185 HIRA
4 heart septal defect 30.9 TBX1 PRODH HIRA
5 schizophreniform disorder 30.9 PRODH DGCR2 COMT
6 ventricular septal defect 30.8 TBX1 PRODH HIRA
7 atrial heart septal defect 30.8 TBX1 PRODH HIRA
8 schizophrenia 30.8 TBX1 PRODH DGCR8 DGCR6 DGCR2 COMT
9 tetralogy of fallot 30.7 UFD1 TBX1 PRODH HIRA DGCR5 DGCR2
10 t-cell immunodeficiency with thymic aplasia 30.6 TBX1 PRODH HIRA GP1BB
11 schizoaffective disorder 30.6 PRODH MIR4761 COMT
12 chromosome 22q11.2 duplication syndrome 30.4 UFD1 TBX1 PRODH HIRA DGCR5
13 schizotypal personality disorder 30.3 PRODH COMT
14 phobia, specific 30.3 PRODH COMT
15 chromosomal disease 30.3 TBX1 PRODH MIR185 HIRA DGCR8 DGCR5
16 paranoid schizophrenia 30.2 PRODH COMT
17 goldberg-shprintzen syndrome 11.7
18 mowat-wilson syndrome 11.2
19 cleft palate, isolated 10.7
20 palatopharyngeal incompetence 10.6
21 learning disability 10.5
22 attention deficit-hyperactivity disorder 10.5
23 van den ende-gupta syndrome 10.4 PRODH GP1BB DGCR2
24 ichthyosis, congenital, autosomal recessive 9 10.4 TBX1 HIRA COMT
25 drug psychosis 10.4 PRODH COMT
26 chromosome 6q24-q25 deletion syndrome 10.4 PRODH MRPL40
27 drug-induced mental disorder 10.4 PRODH COMT
28 psychotic disorder 10.4
29 hyperprolinemia 10.4 PRODH DGCR5 COMT
30 heparin cofactor ii deficiency 10.4 SLC7A4 PRODH
31 tic disorder 10.4 PRODH MIR4761 COMT
32 patent ductus arteriosus 1 10.4 TBX1 PRODH HIRA
33 substance-induced psychosis 10.4 PRODH COMT
34 hirschsprung disease 1 10.4
35 delusional disorder 10.4 PRODH COMT
36 hyperprolinemia, type i 10.4 PRODH DGCR5
37 cannabis abuse 10.4 PRODH COMT
38 orofacial cleft 10.4 TBX1 PRODH HIRA DGCR5
39 bipolar i disorder 10.4 PRODH COMT
40 thrombocytopenia 10.4
41 lymphopenia 10.4
42 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.4 PRODH GP1BB
43 physical disorder 10.4 TBX1 PRODH DGCR5
44 tricuspid atresia 10.4 TBX1 PRODH
45 conotruncal heart malformations 10.3
46 thrombocytopenia due to platelet alloimmunization 10.3
47 dysthymic disorder 10.3 PRODH COMT
48 major affective disorder 1 10.3
49 laryngeal web, familial 10.3
50 major affective disorder 2 10.3

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



Diseases related to Velocardiofacial Syndrome

Symptoms & Phenotypes for Velocardiofacial Syndrome

Human phenotypes related to Velocardiofacial Syndrome:

30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 hypotonia 30 Very rare (1%) HP:0001252
3 inguinal hernia 30 Very rare (1%) HP:0000023
4 umbilical hernia 30 Very rare (1%) HP:0001537
5 short stature 30 Very rare (1%) HP:0004322
6 cryptorchidism 30 Very rare (1%) HP:0000028
7 tetralogy of fallot 30 Very rare (1%) HP:0001636
8 interrupted aortic arch 30 Very rare (1%) HP:0011611
9 talipes 30 Very rare (1%) HP:0001883
10 hypoparathyroidism 30 Very rare (1%) HP:0000829
11 hypocalcemia 30 Very rare (1%) HP:0002901
12 impaired t cell function 30 Very rare (1%) HP:0005435
13 submucous cleft hard palate 30 Very rare (1%) HP:0000176
14 pulmonary artery atresia 30 Very rare (1%) HP:0004935
15 velopharyngeal insufficiency 30 Very rare (1%) HP:0000220
16 double aortic arch 30 Very rare (1%) HP:0011590
17 emotional lability 30 HP:0000712
18 delayed speech and language development 30 HP:0000750
19 microcephaly 30 HP:0000252
20 retrognathia 30 HP:0000278
21 specific learning disability 30 HP:0001328
22 open mouth 30 HP:0000194
23 posterior embryotoxon 30 HP:0000627
24 bulbous nose 30 HP:0000414
25 nasal speech 30 HP:0001611
26 ventricular septal defect 30 HP:0001629
27 blepharophimosis 30 HP:0000581
28 underdeveloped nasal alae 30 HP:0000430
29 recurrent infections 30 HP:0002719
30 abnormal heart morphology 30 HP:0001627
31 aggressive behavior 30 HP:0000718
32 abnormality of the hand 30 HP:0001155
33 pierre-robin sequence 30 HP:0000201
34 abnormality of the ear 30 HP:0000598
35 narrow palpebral fissure 30 HP:0045025
36 paranoia 30 HP:0011999
37 retinal vascular tortuosity 30 HP:0012841
38 t lymphocytopenia 30 HP:0005403
39 right aortic arch with mirror image branching 30 HP:0002627
40 unilateral primary pulmonary dysgenesis 30 HP:0006549

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Drugs & Therapeutics for Velocardiofacial Syndrome

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Central Nervous System Stimulants Phase 4
4 Dopamine Uptake Inhibitors Phase 4
5
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
6
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
7
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
8
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9, 10191-41-0 2116 14985
9
Tocotrienol Investigational Phase 2, Phase 3 6829-55-6 9929901
10 Vitamins Phase 2, Phase 3
11 Omega 3 Fatty Acid Phase 2, Phase 3
12 Tocotrienols Phase 2, Phase 3
13 Tocopherols Phase 2, Phase 3
14 Calcium, Dietary Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
17
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
18
Mycophenolic acid Approved, Investigational Phase 1, Phase 2 24280-93-1 446541
19
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
22
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
23
Melphalan Approved Phase 2 148-82-3 4053 460612
24
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
25
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
27
Cannabidiol Approved, Investigational Phase 1, Phase 2 13956-29-1 521372 644019
28
Metyrosine Approved Phase 2 672-87-7 441350
29
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
30
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
31 Antirheumatic Agents Phase 1, Phase 2
32 Antineoplastic Agents, Hormonal Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Neuroprotective Agents Phase 1, Phase 2
36 Calcineurin Inhibitors Phase 1, Phase 2
37 Hormones Phase 1, Phase 2
38 Hormone Antagonists Phase 1, Phase 2
39 Antifungal Agents Phase 1, Phase 2
40 Antiemetics Phase 1, Phase 2
41 Anti-Inflammatory Agents Phase 1, Phase 2
42 glucocorticoids Phase 1, Phase 2
43 Antitubercular Agents Phase 1, Phase 2
44 Antibiotics, Antitubercular Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Dermatologic Agents Phase 1, Phase 2
47 Protective Agents Phase 1, Phase 2
48 5-((2-(6-Amino-9H-purin-9-yl) ethyl) amino)-1-pentanol Phase 2
49 Immunosuppressive Agents Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
4 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
5 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
6 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
7 A Randomized, Placebo-Controlled Crossover Trial to Assess the Safety and Efficacy of NB-001 in Children and Adolescents With 22q11 Deletion Syndrome Recruiting NCT05290493 Phase 2 NB-001
8 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
9 Open-Label, Tolerability and Efficacy Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome Active, not recruiting NCT05149898 Phase 1, Phase 2 ZYN002
10 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
11 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
12 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
13 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
14 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
15 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
16 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
17 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
18 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Approved for marketing NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Mycophenolate mofetil
19 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
20 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
21 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
22 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
23 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
24 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
25 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
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 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Completed NCT04647500 Concerta
29 Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction,Clinician Communication, and Quality of Care Completed NCT01658644
30 Genetic Modifiers for 22q11.2 Syndrome Completed NCT00916955
31 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
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 Congenital Athymia Patient Registry of RETHYMIC Recruiting NCT05329935
35 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
36 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
37 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
38 Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders Enrolling by invitation NCT03836300
39 Pilot Study: Self-Face Recognition After Face Transplantation Enrolling by invitation NCT03027141
40 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
41 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060
42 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Terminated NCT04639960 Risperdal;Placebo
43 Prevalence and Clincial Spectrum of the 22q11 Deletion: A Population Based Study of Children and Congenital Heart Defects Terminated NCT00267397

Search NIH Clinical Center for Velocardiofacial Syndrome

Genetic Tests for Velocardiofacial Syndrome

Genetic tests related to Velocardiofacial Syndrome:

# Genetic test Affiliating Genes
1 Velocardiofacial Syndrome 28 DGCR2 DGCR6 DGCR8 ESS2 TBX1

Anatomical Context for Velocardiofacial Syndrome

Organs/tissues related to Velocardiofacial Syndrome:

MalaCards : Thymus, Heart, Kidney, Whole Blood, Bone, Lung, Bone Marrow
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Velocardiofacial Syndrome

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 1642)
# Title Authors PMID Year
1
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 57 5
16684884 2006
2
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 62 57
20503320 2010
3
Genetic compensation in a human genomic disorder. 62 57
19297573 2009
4
The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. 62 57
20162865 2009
5
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 62 5
17273972 2007
6
The velocardiofacial syndrome in older age: dementia and autistic features. 62 57
17100202 2006
7
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 62 57
15190012 2004
8
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. 62 57
15048660 2004
9
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. 62 57
15048657 2004
10
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. 62 57
14681306 2004
11
Kousseff syndrome: a causally heterogeneous disorder. 62 57
14708106 2004
12
Role of TBX1 in human del22q11.2 syndrome. 62 57
14585638 2003
13
No justification of routine screening for 22q11 deletions in patients with overt cleft palate. 62 57
12919136 2003
14
Primary pulmonary dysgenesis in velocardiofacial syndrome: a second patient. 62 57
12910501 2003
15
Pulmonary agenesis: expansion of the VCFS phenotype. 62 57
12400071 2002
16
Kousseff syndrome caused by deletion of chromosome 22q11-13. 62 57
12376934 2002
17
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. 62 57
12081724 2002
18
Association of tetralogy of Fallot with a distinct region of del22q11.2. 62 57
11840485 2002
19
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 62 57
11713452 2001
20
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. 62 57
11709542 2001
21
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 62 57
11242111 2001
22
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 62 57
11242110 2001
23
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 62 57
11239417 2001
24
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). 62 57
11339374 2001
25
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! 62 57
11339373 2001
26
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. 62 57
10699172 2000
27
High rates of schizophrenia in adults with velo-cardio-facial syndrome. 62 57
10530637 1999
28
A common molecular basis for rearrangement disorders on chromosome 22q11. 62 57
10369860 1999
29
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. 62 57
10051168 1999
30
22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. 62 57
10191428 1999
31
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. 62 57
9773854 1998
32
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. 62 57
9326327 1997
33
Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. 62 57
9192844 1997
34
Chromosome 22q11 deletion presenting as the Potter sequence. 62 57
9152843 1997
35
Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. 62 57
9106531 1997
36
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? 62 57
9032655 1997
37
Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. 62 57
8733128 1996
38
Velocardiofacial syndrome: learning difficulties and intervention. 62 57
7473652 1995
39
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. 62 57
7644464 1995
40
Cerebellar atrophy in a patient with velocardiofacial syndrome. 62 57
7562973 1995
41
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. 62 57
7762562 1995
42
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. 62 57
7747762 1994
43
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. 62 57
7747757 1994
44
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. 62 57
8040660 1994
45
Velo-cardio-facial syndrome: a review of 120 patients. 62 57
8434617 1993
46
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. 62 57
8434616 1993
47
Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. 62 57
1360084 1992
48
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. 62 57
1360769 1992
49
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. 62 57
1349369 1992
50
Late-onset psychosis in the velo-cardio-facial syndrome. 62 57
1308357 1992

Variations for Velocardiofacial Syndrome

ClinVar genetic disease variations for Velocardiofacial Syndrome:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX1 NM_001379200.1(TBX1):c.609C>G (p.His203Gln) SNV Pathogenic
7567 rs74315522 GRCh37: 22:19751747-19751747
GRCh38: 22:19764224-19764224
2 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 CN LOSS Pathogenic
666443 GRCh37: 22:18661724-21505417
GRCh38:
3 overlap with 77 genes DEL Pathogenic
1684639 GRCh37:
GRCh38: 22:18948676-21110520
4 overlap with 77 genes DEL Pathogenic
1684640 GRCh37:
GRCh38: 22:18948677-21110520
5 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 CN LOSS Pathogenic
636280 GRCh37: 22:18912231-21465672
GRCh38:
6 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 CN LOSS Pathogenic
636281 GRCh37: 22:18631364-21800471
GRCh38:
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 CN LOSS Pathogenic
636282 GRCh37: 22:18922151-21449911
GRCh38:
8 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 CN LOSS Pathogenic
636283 GRCh37: 22:18636749-21800471
GRCh38:
9 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 CN LOSS Pathogenic
636284 GRCh37: 22:18919477-21800471
GRCh38:
10 TBX1 NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs) DEL Pathogenic
7566 GRCh37: 22:19754195-19754217
GRCh38: 22:19766672-19766694
11 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely Pathogenic
973222 rs1936727304 GRCh37: 22:19750829-19750829
GRCh38: 22:19763306-19763306
12 TBX1 NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) SNV Uncertain Significance
992543 rs1452987245 GRCh37: 22:19753948-19753948
GRCh38: 22:19766425-19766425
13 TBX1 NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) SNV Uncertain Significance
934486 rs144848597 GRCh37: 22:19752592-19752592
GRCh38: 22:19765069-19765069
14 TBX1 NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) INSERT Uncertain Significance
858922 rs1192078635 GRCh37: 22:19754023-19754024
GRCh38: 22:19766500-19766501
15 TBX1 NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp) SNV Uncertain Significance
1709975 GRCh37: 22:19750799-19750799
GRCh38: 22:19763276-19763276
16 TBX1 NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) SNV Uncertain Significance
518715 rs781731042 GRCh37: 22:19753951-19753951
GRCh38: 22:19766428-19766428
17 TBX1 NM_001379200.1(TBX1):c.351C>T (p.Ala117=) SNV Uncertain Significance
626178 rs757290764 GRCh37: 22:19748717-19748717
GRCh38: 22:19761194-19761194

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

73
# 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:

6 (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

Expression for Velocardiofacial Syndrome

Search GEO for disease gene expression data for Velocardiofacial Syndrome.

Pathways for Velocardiofacial Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.62 UFD1 TBX1 SLC7A4 PRODH MRPL40 HIRA

GO Terms for Velocardiofacial Syndrome

Sources for Velocardiofacial Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....