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MCID: VLC001
MIFTS: 63

Velocardiofacial Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood 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 76 53 25 59 75 37 13 55 15 40
Shprintzen Syndrome 12 76 53 25 59 29 6 73
22q11.2 Deletion Syndrome 76 24 53 25 59 37
Conotruncal Anomaly Face Syndrome 53 25 59 73
Digeorge Syndrome 53 25 59 73
Vcfs 57 53 25 75
Chromosome 22q11.2 Deletion Syndrome 57 53 75
Cayler Cardiofacial Syndrome 53 25 59
Velo-Cardio-Facial Syndrome 25 75 55
Sedlackova Syndrome 53 25 59
Autosomal Dominant Opitz G/bbb Syndrome 53 25
Deletion 22q11.2 Syndrome 12 25
Shprintzen Vcf Syndrome 57 75
22q11 Deletion Syndrome 12 73
Vcf Syndrome 57 75
22q11.2ds 24 25
Catch22 53 25
Vcf-Velocardiofacial Syndrome 12
Microdeletion 22q11.2 59
Vcf Syndrome; Vcfs 57
Digeorge Sequence 59
Monosomy 22q11 59
Takao Syndrome 59
Catch 22 59
22q11ds 59

Characteristics:

Orphanet epidemiological data:

59
22q11.2 deletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
velocardiofacial syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in individuals with 22q112ds; variability is marked...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Nephrological diseases Ear diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM 57 192430
Disease Ontology 12 DOID:12583
ICD10 33 Q93.81
ICD9CM 35 758.32
MeSH 44 D004062
SNOMED-CT 68 205642004 83092002
Orphanet 59 ORPHA567
UMLS via Orphanet 74 C0012236 C0220704 C0795907 more
ICD10 via Orphanet 34 D82.1
MESH via Orphanet 45 D058165
MedGen 42 C0220704
SNOMED-CT via HPO 69 263681008 396232000 204878001 more
Sources

Summaries for Velocardiofacial Syndrome

About this section
NIH Rare Diseases : 53 22q11.2 deletionsyndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition. Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. 22q11.2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

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

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

Genetics Home Reference : 25 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

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

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

Description from OMIM: 192430
GeneReviews: NBK1523
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 74)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 31.9 DGCR DGCR2 DGCR5 DGCR6 DGCR8 ESS2
2 tetralogy of fallot 30.6 DGCR HIRA TBX1 UFD1
3 cayler cardiofacial syndrome 12.6
4 goldberg-shprintzen syndrome 12.5
5 chromosome 22q11.2 deletion syndrome, distal 12.4
6 digeorge syndrome/velocardiofacial syndrome complex 2 12.0
7 opitz-gbbb syndrome 11.8
8 conotruncal heart malformations 11.6
9 opitz gbbb syndrome, type ii 11.4
10 oligomeganephronia 11.0
11 chromosome 8p23.1 deletion 10.9
12 fetal and neonatal alloimmune thrombocytopenia 10.8 GP1BA GP1BB
13 inherited blood coagulation disease 10.8 GP1BA GP1BB GP9
14 blood coagulation disease 10.8 GP1BA GP1BB GP9
15 blood platelet disease 10.7 GP1BA GP1BB GP9
16 bernard-soulier syndrome 10.7 GP1BA GP1BB GP9
17 hyperprolinemia 10.6 COMT PRODH
18 autosomal dominant macrothrombocytopenia 10.6 GP1BA GP1BB
19 chromosomal deletion syndrome 10.5 DGCR6 HIRA PRODH TBX1 UFD1
20 thrombocytopenia 10.2 GP1BA GP1BB GP9
21 situs inversus 10.2
22 dextrocardia with situs inversus 10.2
23 pharyngitis 10.1
24 supernumerary der(22)t(8 10.1
25 kenny-caffey syndrome 10.1
26 palatopharyngeal incompetence 10.0
27 schizophrenia 10.0
28 attention deficit-hyperactivity disorder 9.9
29 hypoparathyroidism 9.9
30 aging 9.9
31 arthritis 9.9
32 heart disease 9.9
33 cervicitis 9.9
34 shprintzen omphalocele syndrome 9.8
35 neural tube defects 9.8
36 omphalocele 9.8
37 sacral meningocele conotruncal heart defects 9.8
38 craniosynostosis 9.7
39 polymicrogyria 9.7
40 cleft palate, isolated 9.7
41 ear malformation 9.7
42 immunoglobulin a deficiency 1 9.7
43 rheumatoid arthritis 9.7
44 down syndrome 9.7
45 williams-beuren syndrome 9.7
46 autism 9.7
47 fragile x syndrome 9.7
48 dysphasia, familial developmental 9.7
49 leukemia, acute myeloid 9.7
50 anxiety 9.7

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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Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Head And Neck Face:
retrognathia
long
pierre robin syndrome

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

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

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

Head And Neck Ears:
minor auricular anomalies

Skeletal Hands:
slender hands and digits

Immunology:
frequent infections t-lymphocyte dysfunction, rare

Head And Neck Head:
microcephaly

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

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

Neurologic Central Nervous System:
mental retardation
learning disability

Voice:
nasal voice

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

Endocrine Features:
neonatal hypocalcemia, rare

Laboratory Abnormalities:
monosomy for 22q11


Clinical features from OMIM:

192430

Human phenotypes related to Velocardiofacial Syndrome:

59 32 (show top 50) (show all 154)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
5 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
9 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
10 intellectual disability 59 32 Occasional (29-5%) HP:0001249
11 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
12 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
13 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
14 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
15 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
16 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
17 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
18 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
19 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
20 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
21 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
22 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
23 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
24 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
25 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
26 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
27 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
28 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
29 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
30 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
31 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
32 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
33 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
34 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
35 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
36 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
37 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
38 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
39 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
40 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
41 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
42 abnormality of the thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0000765
43 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
44 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
45 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
46 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
47 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
48 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
49 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
50 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
Sources

Drugs & Therapeutics for Velocardiofacial Syndrome

About this section

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

(show top 50) (show all 77)
# 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 Antipsychotic Agents Phase 4
5 Central Nervous System Depressants Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dopamine Agents Phase 4
8 Dopamine Antagonists Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Neurotransmitter Agents Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Psychotropic Drugs Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
25
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2,Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
29
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
30 Hormones Phase 1, Phase 2
31 Alkylating Agents Phase 2
32 Antimetabolites Phase 2
33 Antimetabolites, Antineoplastic Phase 2
34 Antineoplastic Agents, Alkylating Phase 2
35 Immunosuppressive Agents Phase 2,Phase 1
36 Anesthetics Phase 2,Phase 1
37 Analgesics Phase 1, Phase 2
38 Analgesics, Non-Narcotic Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
40 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
41 Antiemetics Phase 1, Phase 2
42 Antifungal Agents Phase 1, Phase 2,Phase 2
43 Anti-Infective Agents Phase 1, Phase 2,Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Antilymphocyte Serum Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Antipyretics Phase 1, Phase 2
48 Antirheumatic Agents Phase 1, Phase 2,Phase 2
49 Antitubercular Agents Phase 1, Phase 2,Phase 2
50 Autonomic Agents Phase 1, Phase 2

Interventional clinical trials:

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

Search NIH Clinical Center for Velocardiofacial Syndrome

Sources

Genetic Tests for Velocardiofacial Syndrome

About this section

Genetic tests related to Velocardiofacial Syndrome:

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

Anatomical Context for Velocardiofacial Syndrome

About this section

MalaCards organs/tissues related to Velocardiofacial Syndrome:

41
Heart, Thymus, Kidney, T Cells, Lung, Bone, Testes
Sources

Publications for Velocardiofacial Syndrome

About this section

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 212)
# Title Authors Year
1
Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients: Implications in Velopharyngeal Incompetence and Pharyngeal Flap Surgery. ( 29554449 )
2018
2
Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty. ( 29863556 )
2018
3
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. ( 28059126 )
2017
4
Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis. ( 26864886 )
2016
5
Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty. ( 27732116 )
2016
6
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease. ( 26409294 )
2015
7
Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging. ( 26031215 )
2015
8
Extensive pneumatization of the ethmoid sinus in a case of velocardiofacial syndrome. ( 24366697 )
2013
9
Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit/hyperactivity disorder: A pilot study. ( 24377834 )
2013
10
Internal carotid artery variations in velocardiofacial syndrome patients and its implications for surgery. ( 23969952 )
2013
11
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. ( 23342150 )
2013
12
Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. ( 23000736 )
2012
13
Cognitive phenotype of velocardiofacial syndrome: a review. ( 21764255 )
2011
14
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 21200182 )
2011
15
Discussion. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532432 )
2011
16
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. ( 22149470 )
2011
17
Dental development and tooth agenesis in children with velocardiofacial syndrome. ( 21689177 )
2011
18
A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). ( 21863400 )
2011
19
Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. ( 21820188 )
2011
20
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532431 )
2011
21
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. ( 21602040 )
2011
22
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. ( 21305558 )
2011
23
Speech outcomes and velopharyngeal function after surgical treatment of velopharyngeal insufficiency in individuals with signs of velocardiofacial syndrome. ( 21959422 )
2011
24
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. ( 21195387 )
2011
25
An algorithm for application of furlow palatoplasty to the treatment of velocardiofacial syndrome-associated velopharyngeal insufficiency. ( 21451369 )
2011
26
Velocardiofacial syndrome presenting as chronic mania. ( 21105957 )
2010
27
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. ( 20503320 )
2010
28
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). ( 20125192 )
2010
29
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 20472505 )
2010
30
Quality of life among children with velocardiofacial syndrome. ( 20426676 )
2010
31
Craniofacial morphology in patients with velocardiofacial syndrome. ( 20426673 )
2010
32
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. ( 19307682 )
2009
33
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? ( 19695908 )
2009
34
Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. ( 19299897 )
2009
35
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ( 19819113 )
2009
36
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. ( 20030804 )
2009
37
Stranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology. ( 19855217 )
2009
38
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. ( 19816377 )
2009
39
Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. ( 19720406 )
2009
40
Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. ( 19881378 )
2009
41
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. ( 19376197 )
2009
42
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). ( 19302762 )
2009
43
Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. ( 18333642 )
2008
44
Clicks produced as compensatory articulations in two adolescents with velocardiofacial syndrome. ( 18616363 )
2008
45
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. ( 18424337 )
2008
46
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. ( 18162840 )
2008
47
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. ( 18788013 )
2008
48
Through-and-through dissection of the soft palate for high pharyngeal flap inset: a new technique for the treatment of velopharyngeal incompetence in velocardiofacial syndrome. ( 18766049 )
2008
49
Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. ( 18314073 )
2008
50
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. ( 18179902 )
2008
Sources

Variations for Velocardiofacial Syndrome

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

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

ClinVar genetic disease variations for Velocardiofacial Syndrome:

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

Copy number variations for Velocardiofacial Syndrome from CNVD:

7 (show top 50) (show all 67)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17383 1 142600000 147000000 Deletion Velocardiofacial syndrome
2 39937 10 12200000 17300000 Deletion Velocardiofacial syndrome
3 81487 14 103000000 106368585 Deletion 22q11 deletion syndrome
4 91520 15 31200000 33600000 Deletion Velocardiofacial syndrome
5 157439 21 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
6 160191 22 1 49691432 Microdeletion COMT Velocardiofacial syndrome
7 160192 22 1 49691432 Microdeletion PRODH Velocardiofacial syndrome
8 160193 22 1 49691432 Microdeletion TBX1 Velocardiofacial syndrome
9 160194 22 1 49691432 Microdeletion ZDHHC8 Velocardiofacial syndrome
10 160212 22 11800000 24300000 Deletion 22q11 deletion syndrome
11 160213 22 11800000 24300000 Deletion 22q11 deletion syndrome
12 160214 22 11800000 24300000 Deletion 22q11 deletion syndrome
13 160226 22 11800000 24300000 Deletion Shprintzen syndrome
14 160232 22 11800000 24300000 Deletion CF798466 22q11 deletion syndrome
15 160234 22 11800000 24300000 Deletion COMT 22q11 deletion syndrome
16 160238 22 11800000 24300000 Deletion COMT velo-cardio-facial syndrome
17 160239 22 11800000 24300000 Deletion D22S936 22q11 deletion syndrome
18 160243 22 11800000 24300000 Deletion DGCR6 velo-cardio-facial syndrome
19 160246 22 11800000 24300000 Deletion HIC2 22q11 deletion syndrome
20 160247 22 11800000 24300000 Deletion PRODH 22q11 deletion syndrome
21 160251 22 11800000 24300000 Deletion PRODH velo-cardio-facial syndrome
22 160252 22 11800000 24300000 Deletion SLC7A4 22q11 deletion syndrome
23 160253 22 11800000 24300000 Deletion TBX1 22q11 deletion syndrome
24 160256 22 11800000 24300000 Deletion USP18 22q11 deletion syndrome
25 160261 22 11800000 24300000 Microdeletion 22q11.2 microdeletion syndrome
26 160267 22 11800000 24300000 Microdeletion Shprintzen syndrome
27 160269 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
28 160270 22 11800000 24300000 Microdeletion Velocardiofacial syndrome
29 160280 22 11800000 24300000 Microdeletions 22q11 deletion syndrome
30 160281 22 11800000 24300000 Microdeletions 22q11.2 microdeletion syndrome
31 160321 22 14433273 18691904 Deletion 22q11 deletion syndrome
32 160775 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
33 160776 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
34 160777 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
35 160778 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
36 160779 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
37 160780 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
38 160781 22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome
39 160799 22 16300000 24300000 Deletion Velocardiofacial syndrome
40 160800 22 16300000 24300000 Deletion Velocardiofacial syndrome
41 160801 22 16300000 24300000 Deletion Velocardiofacial syndrome
42 160803 22 16300000 24300000 Deletion velo-cardio-facial syndrome
43 160804 22 16300000 24300000 Deletion velo-cardio-facial syndrome
44 160805 22 16300000 24300000 Deletion CHEK2 22q11.2 microdeletion syndrome
45 160811 22 16300000 24300000 Deletion TBX1 22q11.2 microdeletion syndrome
46 160816 22 16300000 24300000 Deletion Tbx1 22q11.2 microdeletion syndrome
47 160827 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
48 160828 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
49 160829 22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome
50 160830 22 16300000 24300000 Microdeletion 22q11.2 microdeletion 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
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.78 GP1BA GP1BB GP9
2
ECM-receptor interaction 37
Show member pathways
 11.72 GP1BA GP1BB GP9
3
Platelet activation 37
11.59 GP1BA GP1BB GP9
4
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.42 GP1BA GP1BB GP9
5
Hematopoietic cell lineage 37
11.32 GP1BA GP1BB GP9
6
Platelet Adhesion to exposed collagen 66
10.25 GP1BA GP1BB GP9
7
GP1b-IX-V activation signalling 66
9.8 GP1BA GP1BB GP9
Sources

GO Terms for Velocardiofacial Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 GP1BA GP1BB GP9 JMJD1C
2 platelet activation GO:0030168 9.5 GP1BA GP1BB GP9
3 cell adhesion GO:0007155 9.43 ARVCF DGCR2 DGCR6 GP1BA GP1BB GP9
4 face morphogenesis GO:0060325 9.37 CLDN5 TBX1
5 hemostasis GO:0007599 9.33 GP1BA GP1BB GP9
6 blood coagulation, intrinsic pathway GO:0007597 8.8 GP1BA GP1BB GP9
Sources

Sources for Velocardiofacial Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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