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VCFS
MCID: VLC001
MIFTS: 55

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 56 12 74 73 36 13 54 15 39
Shprintzen Syndrome 12 74 71
Chromosome 22q11.2 Deletion Syndrome 56 73
Shprintzen Vcf Syndrome 56 73
22q11 Deletion Syndrome 12 71
Vcf Syndrome 56 73
Vcfs 56 73
Conotruncal Anomaly Face Syndrome 71
Vcf-Velocardiofacial Syndrome 12
Velo-Cardio-Facial Syndrome 73
Deletion 22q11.2 Syndrome 12
Vcf Syndrome; Vcfs 56
Digeorge Syndrome 71

Characteristics:

OMIM:

56
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: Cardiovascular diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Velocardiofacial Syndrome

About this section
UniProtKB/Swiss-Prot : 73 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 hyperprolinemia. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, thymus and kidney, 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.

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 : 74 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 302)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 31.2 UFD1 TBX1 SLC25A1 PRODH MRPL40 MIR185
2 hyperprolinemia 30.7 PRODH COMT
3 heart septal defect 30.6 TBX1 PRODH HIRA
4 atrial heart septal defect 30.4 TBX1 PRODH HIRA
5 mental depression 30.2 PRODH MIR185 COMT
6 bernard-soulier syndrome 30.2 PRODH GP9 GP1BB GP1BA
7 phobia, specific 30.2 PRODH COMT
8 schizophreniform disorder 30.2 PRODH COMT
9 pervasive developmental disorder 30.1 TBX1 PRODH MIR185 COMT
10 tetralogy of fallot 30.1 UFD1 TBX1 PRODH HIRA GP1BB DGCR
11 schizotypal personality disorder 30.0 PRODH COMT
12 chromosome 22q11.2 duplication syndrome 30.0 UFD1 TBX1 PRODH HIRA
13 chromosomal deletion syndrome 28.8 UFD1 TBX1 PRODH MIR185 HIRA GSC2
14 goldberg-shprintzen syndrome 12.8
15 digeorge syndrome/velocardiofacial syndrome complex 2 12.5
16 mowat-wilson syndrome 11.7
17 opitz gbbb syndrome, type ii 11.6
18 oligomeganephronia 11.3
19 chromosome 8p23.1 deletion 11.3
20 cleft palate, isolated 10.7
21 palatopharyngeal incompetence 10.6
22 learning disability 10.5
23 fetal and neonatal alloimmune thrombocytopenia 10.4 GP1BB GP1BA
24 attention deficit-hyperactivity disorder 10.4
25 major affective disorder 1 10.4
26 laryngeal web, familial 10.4
27 hirschsprung disease 1 10.4
28 autosomal dominant macrothrombocytopenia 10.4 GP1BB GP1BA
29 hypoparathyroidism 10.3
30 opitz-gbbb syndrome 10.3 TBX1 PRODH GP1BB
31 myh-9 related disease 10.3 GP9 GP1BB GP1BA
32 tricuspid atresia 10.3 TBX1 PRODH
33 bap1 tumor predisposition syndrome 10.3
34 pseudo-von willebrand disease 10.3 GP9 GP1BB GP1BA
35 ichthyosis, congenital, autosomal recessive 9 10.3 TBX1 HIRA COMT
36 inherited blood coagulation disease 10.3 GP9 GP1BB GP1BA
37 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.3 PRODH GP1BB
38 blood coagulation disease 10.3 GP9 GP1BB GP1BA
39 chromosomal duplication syndrome 10.3 TBX1 PRODH PRDM9
40 chromosome 6q24-q25 deletion syndrome 10.3 SLC25A1 PRODH MRPL40
41 cleft soft palate 10.3
42 marfan syndrome 10.3
43 ulnar-mammary syndrome 10.3
44 neural tube defects 10.3
45 celiac disease 1 10.3
46 ritscher-schinzel syndrome 1 10.3
47 oculocerebral syndrome with hypopigmentation 10.3
48 schizophrenia 4 10.3
49 speech and communication disorders 10.3
50 ritscher-schinzel syndrome 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 muscular hypotonia 31 very rare (1%) HP:0001252
3 inguinal hernia 31 very rare (1%) HP:0000023
4 umbilical hernia 31 very rare (1%) HP:0001537
5 short stature 31 very rare (1%) HP:0004322
6 cryptorchidism 31 very rare (1%) HP:0000028
7 hypoparathyroidism 31 very rare (1%) HP:0000829
8 hypocalcemia 31 very rare (1%) HP:0002901
9 interrupted aortic arch 31 very rare (1%) HP:0011611
10 tetralogy of fallot 31 very rare (1%) HP:0001636
11 talipes 31 very rare (1%) HP:0001883
12 impaired t cell function 31 very rare (1%) HP:0005435
13 submucous cleft hard palate 31 very rare (1%) HP:0000176
14 pulmonary artery atresia 31 very rare (1%) HP:0004935
15 velopharyngeal insufficiency 31 very rare (1%) HP:0000220
16 double aortic arch 31 very rare (1%) HP:0011590
17 delayed speech and language development 31 HP:0000750
18 underdeveloped nasal alae 31 HP:0000430
19 ventricular septal defect 31 HP:0001629
20 microcephaly 31 HP:0000252
21 open mouth 31 HP:0000194
22 retrognathia 31 HP:0000278
23 specific learning disability 31 HP:0001328
24 paranoia 31 HP:0011999
25 aggressive behavior 31 HP:0000718
26 posterior embryotoxon 31 HP:0000627
27 bulbous nose 31 HP:0000414
28 nasal speech 31 HP:0001611
29 recurrent infections 31 HP:0002719
30 abnormality of the hand 31 HP:0001155
31 blepharophimosis 31 HP:0000581
32 retinal vascular tortuosity 31 HP:0012841
33 decrease in t cell count 31 HP:0005403
34 abnormal heart morphology 31 HP:0001627
35 abnormality of the ear 31 HP:0000598
36 pierre-robin sequence 31 HP:0000201
37 narrow palpebral fissure 31 HP:0045025
38 mood swings 31 HP:0000720
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:

56
Abdomen External Features:
inguinal hernia
umbilical hernia

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

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 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

Growth Height:
short stature

Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
long
pierre robin syndrome

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

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 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
9 Neurotransmitter Agents Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Agents Phase 4
12 Antipsychotic Agents Phase 4
13 Dopamine Antagonists Phase 4
14 Tranquilizing Agents Phase 4
15 Psychotropic Drugs Phase 4
16 Serotonin Agents Phase 4
17 Dopamine Uptake Inhibitors Phase 4
18 Serotonin Antagonists Phase 4
19 Analgesics Phase 4
20 Antipyretics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Narcotics Phase 4
25 Analgesics, Opioid Phase 4
26
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
27
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
28
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2, 54-28-4 14986
29
Oxycodone Approved, Illicit, Investigational Phase 3 76-42-6 5284603
30
Tapentadol Approved Phase 3 175591-23-8 9838022
31
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
33
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
34 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
35 Vitamins Phase 2, Phase 3
36 Tocopherols Phase 2, Phase 3
37 Tocotrienols Phase 2, Phase 3
38 Omega 3 Fatty Acid Phase 2, Phase 3
39 Central Nervous System Depressants Phase 3
40 Adrenergic Agents Phase 3
41 Calcium, Dietary Phase 3
42
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
43
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
44
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
45
Melphalan Approved Phase 2 148-82-3 4053 460612
46
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
47
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
48
Mycophenolic acid Approved Phase 2 24280-93-1 446541
49
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
50
alemtuzumab Approved, Investigational Phase 2 216503-57-0

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Radiofrequency Ablation of the Medial Branch Nerve as a Novel Treatment for Posterior Element Pain From Vertebral Compression Fractures Recruiting NCT03651804 Phase 4 Non-steroidal anti-inflammatory drugs;Bisphosphonates;Acetaminophen;Opioids
4 Evaluation of Vertebral Compression Fracture Fixation With RF Kyphoplasty in Patients With Multiple Myeloma Withdrawn NCT01410929 Phase 4
5 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
6 Investigational Percutaneous Vertebroplasty Efficacy and Safety Trial Unknown status NCT01677806 Phase 3
7 A Randomized, Double-Blind, Placebo- and Oxycodone Immediate Release (IR)-Controlled Study of Tapentadol IR for the Treatment of Acute Pain Caused by Vertebral Compression Fractures Associated With Osteoporosis Completed NCT00771758 Phase 3 oxycodone IR;placebo;tapentadol IR
8 Evaluation of Safety and Effectiveness of the OsseoFixâ„¢ Spinal Fracture Reduction System in Treating Spinal Compression Fracture Terminated NCT00961714 Phase 2, Phase 3
9 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
10 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
11 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
12 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
13 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
14 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
15 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
16 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
17 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Active, not recruiting NCT00566488 Phase 1
18 Thymus Transplantation With Immunosuppression, #884 Active, not recruiting NCT00579709 Phase 1
19 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
20 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
21 Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma Unknown status NCT02541058
22 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Unknown status NCT02890472
23 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
24 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
25 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
26 Use of Dual-energy CT in Detecting Bone Marrow Edema of Vertebral Compression Fractures Unknown status NCT01281826
27 A Randomised Sham Controlled Trial of Vertebroplasty for Painful Chronic Osteoporotic Vertebral Fractures Unknown status NCT01963039
28 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
29 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
30 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
31 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
32 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
33 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
34 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
35 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
36 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
37 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
38 A Prospective and Multicenter Evaluation of Outcomes for Quality of Life and Activities of Daily Living for Balloon Kyphoplasty in the Treatment of Vertebral Compression Fractures Completed NCT01871519
39 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
40 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
41 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
42 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Recruiting NCT03284060
43 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Recruiting NCT04029064
44 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death Recruiting NCT03387072
45 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
46 Genetic Modifiers of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
47 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Active, not recruiting NCT02551120
48 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
49 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Not yet recruiting NCT04141540
50 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005

Search NIH Clinical Center for Velocardiofacial Syndrome

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Genetic Tests for Velocardiofacial Syndrome

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Sources

Anatomical Context for Velocardiofacial Syndrome

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MalaCards organs/tissues related to Velocardiofacial Syndrome:

40
Heart, Thymus, Kidney, T Cells, Testes, Brain, Bone
Sources

Publications for Velocardiofacial Syndrome

About this section

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 629)
# Title Authors PMID Year
1
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 6 56
16684884 2006
2
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. 61 56
20503320 2010
3
Genetic compensation in a human genomic disorder. 56 61
19297573 2009
4
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 6 61
17273972 2007
5
The velocardiofacial syndrome in older age: dementia and autistic features. 61 56
17100202 2006
6
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. 56 61
15048657 2004
7
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. 61 56
15048660 2004
8
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. 61 56
14681306 2004
9
Kousseff syndrome: a causally heterogeneous disorder. 56 61
14708106 2004
10
Role of TBX1 in human del22q11.2 syndrome. 56 61
14585638 2003
11
Primary pulmonary dysgenesis in velocardiofacial syndrome: a second patient. 56 61
12910501 2003
12
Pulmonary agenesis: expansion of the VCFS phenotype. 61 56
12400071 2002
13
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. 61 56
12081724 2002
14
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 61 56
11713452 2001
15
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. 56 61
11242110 2001
16
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. 56 61
11242111 2001
17
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! 56 61
11339373 2001
18
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). 61 56
11339374 2001
19
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. 56 61
10051168 1999
20
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. 61 56
9773854 1998
21
Chromosome 22q11 deletion presenting as the Potter sequence. 61 56
9152843 1997
22
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? 61 56
9032655 1997
23
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. 56 61
7644464 1995
24
Velocardiofacial syndrome: learning difficulties and intervention. 61 56
7473652 1995
25
Cerebellar atrophy in a patient with velocardiofacial syndrome. 61 56
7562973 1995
26
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. 61 56
1349369 1992
27
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. 56 61
1956057 1991
28
The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. 61 56
3816857 1986
29
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 6
27467454 2016
30
Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome. 56
26087175 2016
31
Practical guidelines for managing adults with 22q11.2 deletion syndrome. 6
25569435 2015
32
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 56
23453669 2013
33
Functional outcomes of adults with 22q11.2 deletion syndrome. 56
22744446 2012
34
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
35
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
36
Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. 56
20360742 2010
37
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. 56
19181681 2009
38
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
39
The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. 56
20162865 2009
40
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. 56
17676598 2007
41
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 56
16513880 2006
42
Clinical features of 78 adults with 22q11 Deletion Syndrome. 56
16208694 2005
43
COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. 56
15935994 2005
44
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 56
15190012 2004
45
Dermatoglyphic profile in 22q deletion syndrome. 56
15211630 2004
46
No justification of routine screening for 22q11 deletions in patients with overt cleft palate. 56
12919136 2003
47
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? 56
12539040 2003
48
Kousseff syndrome caused by deletion of chromosome 22q11-13. 56
12376934 2002
49
Association of tetralogy of Fallot with a distinct region of del22q11.2. 56
11840485 2002
50
Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. 56
11731631 2001
Sources

Variations for Velocardiofacial Syndrome

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ClinVar genetic disease variations for Velocardiofacial Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX1 TBX1, 23-BP DEL, NT1320deletion Pathogenic 7566
2 TBX1 NM_080647.1(TBX1):c.582C>G (p.His194Gln)SNV Pathogenic 7567 rs74315522 22:19751747-19751747 22:19764224-19764224
3 subset of 46 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1copy number loss Pathogenic 636280 22:18912231-21465672
4 subset of 51 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1copy number loss Pathogenic 636281 22:18631364-21800471
5 subset of 46 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1copy number loss Pathogenic 636282 22:18922151-21449911
6 subset of 51 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1copy number loss Pathogenic 636283 22:18636749-21800471
7 subset of 49 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1copy number loss Pathogenic 636284 22:18919477-21800471
8 subset of 47 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1copy number loss Pathogenic 666443 22:18661724-21505417
9 TBX1 NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp)SNV Uncertain significance 518715 rs781731042 22:19753951-19753951 22:19766428-19766428
10 TBX1 NM_080647.1(TBX1):c.324C>T (p.Ala108=)SNV Uncertain significance 626178 rs757290764 22:19748717-19748717 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:

7 (show all 36)
# 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 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) 65
Show member pathways
 11.78 GP9 GP1BB GP1BA
2
ECM-receptor interaction 36
Show member pathways
 11.74 GP9 GP1BB GP1BA
3
Platelet activation 36
11.59 GP9 GP1BB GP1BA
4
Hematopoietic cell lineage 36
11.43 GP9 GP1BB GP1BA
5
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.32 GP9 GP1BB GP1BA
6
Platelet Adhesion to exposed collagen 65
10.25 GP9 GP1BB GP1BA
7
GP1b-IX-V activation signalling 65
9.8 GP9 GP1BB GP1BA
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 cell adhesion GO:0007155 9.65 GP9 GP1BB GP1BA DGCR2 ARVCF
2 anatomical structure morphogenesis GO:0009653 9.5 MRPL40 HIRA GSC2
3 platelet activation GO:0030168 9.33 GP9 GP1BB GP1BA
4 hemostasis GO:0007599 9.13 GP9 GP1BB GP1BA
5 blood coagulation, intrinsic pathway GO:0007597 8.8 GP9 GP1BB GP1BA
Sources

Sources for Velocardiofacial Syndrome

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