VCFS
MCID: VLC001
MIFTS: 62

Velocardiofacial Syndrome (VCFS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Velocardiofacial Syndrome

Aliases & Descriptions for Velocardiofacial Syndrome:

Name: Velocardiofacial Syndrome 54 12 50 24 25 56 66 13 52 14
Shprintzen Syndrome 12 50 24 25 56 29 69
22q11.2 Deletion Syndrome 71 23 50 24 25 56
Conotruncal Anomaly Face Syndrome 50 25 56 69
Sedlackova Syndrome 50 24 25 56
Digeorge Syndrome 50 25 56 69
Vcfs 50 24 25 66
Cayler Cardiofacial Syndrome 50 25 56
Velo-Cardio-Facial Syndrome 25 66 52
Deletion 22q11.2 Syndrome 12 24 25
22q11.2ds 23 24 25
Catch22 50 24 25
Autosomal Dominant Opitz G/bbb Syndrome 50 25
Chromosome 22q11.2 Deletion Syndrome 50 66
22q11 Deletion Syndrome 12 69
Vcf-Velocardiofacial Syndrome 12
Caylor Cardiofacial Syndrome 71
Shprintzen Vcf Syndrome 66
Microdeletion 22q11.2 56
Digeorge Sequence 56
Monosomy 22q11 56
Takao Syndrome 56
Vcf Syndrome 66
Del 22q11.2 24
Catch 22 56
22q11ds 56

Characteristics:

Orphanet epidemiological data:

56
22q11.2 deletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age;

GeneReviews:

23
velocardiofacial syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is complete in individuals with 22q112ds; variability is marked...

Classifications:



External Ids:

OMIM 54 192430
Disease Ontology 12 DOID:12583
ICD10 33 Q93.81
ICD9CM 35 758.32
MeSH 42 D004062
SNOMED-CT 64 205642004 83092002
Orphanet 56 ORPHA567
UMLS via Orphanet 70 C0012236 C0220704 C0795907 more
ICD10 via Orphanet 34 D82.1
MESH via Orphanet 43 D058165
MedGen 40 C0220704
UMLS 69 C0220704

Summaries for Velocardiofacial Syndrome

NIH Rare Diseases : 50 22q11.2 deletion syndrome 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. last updated: 5/1/2017

MalaCards based summary : Velocardiofacial Syndrome, also known as shprintzen syndrome, is related to cayler cardiofacial syndrome and chromosome 22q11.2 deletion syndrome, distal, and has symptoms including constipation, myalgia and seizures. 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, kidney and thymus.

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.

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.

UniProtKB/Swiss-Prot : 66 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.

Description from OMIM: 192430
GeneReviews: NBK1523

Related Diseases for Velocardiofacial Syndrome

Diseases in the Velocardiofacial Syndrome family:

Velocardiofacial Syndrome 2

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

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 cayler cardiofacial syndrome 12.5
2 chromosome 22q11.2 deletion syndrome, distal 12.1
3 digeorge syndrome/velocardiofacial syndrome complex 2 11.9
4 velocardiofacial syndrome 2 11.8
5 goldberg-shprintzen megacolon syndrome 11.7
6 conotruncal heart malformations 11.5
7 opitz gbbb syndrome, type ii 11.5
8 opitz-gbbb syndrome 11.5
9 digeorge syndrome 11.3
10 mrpl40-related disorder 10.8
11 digeorge syndrome 2 10.8
12 essential thrombocythemia 10.3 GP1BA GP1BB GP9
13 immunodeficiency 21 10.3 GP1BA GP1BB GP9
14 ocular hyperemia 10.3 GP1BA GP1BB GP9
15 hypertrophic olivary degeneration 10.2 COMT PRODH
16 chondrodysplasia lethal recessive 10.2 COMT PRODH
17 myeloproliferative neoplasm 10.2 GP1BA GP1BB GP9
18 fetal macrosomia 10.2 GP1BA GP1BB
19 chromosome 16p11.2 deletion syndrome, 220kb 10.2 COMT GSC2 HIRA PRODH TBX1
20 situs inversus 10.1
21 tracheal disease 10.1 GP1BA GP1BB GP9
22 ceroid lipofuscinosis, neuronal, 8 10.1 DGCR HIRA TBX1 UFD1
23 pharyngitis 10.0
24 kenny-caffey syndrome 10.0
25 schizophrenia 9.9
26 attention deficit-hyperactivity disorder 9.9
27 autism spectrum disorder 9.9
28 hypoparathyroidism 9.8
29 beta-ureidopropionase deficiency 9.8 DGCR DGCR14 DGCR2 DGCR6 GSC2 HIRA
30 shprintzen-goldberg syndrome 9.8
31 cervicitis 9.8
32 heart disease 9.8
33 arthritis 9.8
34 omphalocele 9.8
35 oculo-auriculo-vertebral spectrum 9.8
36 tetralogy of fallot 9.7
37 polymicrogyria 9.7
38 craniosynostosis 9.7
39 leukemia 9.6
40 tooth agenesis 9.6
41 rheumatoid arthritis 9.6
42 distal arthrogryposis 9.6
43 turner syndrome 9.6
44 hyperthyroidism 9.6
45 apraxia 9.6
46 influenza 9.6
47 specific language impairment 9.6
48 myeloid leukemia 9.6
49 speech disorder 9.6
50 portal hypertension 9.6

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



Diseases related to Velocardiofacial Syndrome

Symptoms & Phenotypes for Velocardiofacial Syndrome

Symptoms by clinical synopsis from OMIM:

192430

Clinical features from OMIM:

192430

Human phenotypes related to Velocardiofacial Syndrome:

56 32 (show top 50) (show all 152)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 myalgia 56 32 Frequent (79-30%) HP:0003326
3 seizures 56 32 Occasional (29-5%) HP:0001250
4 malar flattening 56 32 Frequent (79-30%) HP:0000272
5 hypertelorism 56 32 Occasional (29-5%) HP:0000316
6 low-set ears 56 32 Very frequent (99-80%) HP:0000369
7 short neck 56 32 Frequent (79-30%) HP:0000470
8 obesity 56 32 Occasional (29-5%) HP:0001513
9 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
10 ptosis 56 32 Frequent (79-30%) HP:0000508
11 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
12 intellectual disability 56 32 Occasional (29-5%) HP:0001249
13 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
14 failure to thrive 56 32 Occasional (29-5%) HP:0001508
15 dysphasia 56 32 Very frequent (99-80%) HP:0002357
16 bowel incontinence 56 32 Occasional (29-5%) HP:0002607
17 scoliosis 56 32 Occasional (29-5%) HP:0002650
18 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
19 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
20 cataract 56 32 Occasional (29-5%) HP:0000518
21 global developmental delay 56 32 Frequent (79-30%) HP:0001263
22 arthritis 56 32 Occasional (29-5%) HP:0001369
23 splenomegaly 56 32 Occasional (29-5%) HP:0001744
24 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
25 carious teeth 56 32 Frequent (79-30%) HP:0000670
26 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
27 microcephaly 56 32 Occasional (29-5%) HP:0000252
28 optic atrophy 56 32 Occasional (29-5%) HP:0000648
29 short stature 56 32 Frequent (79-30%) HP:0004322
30 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
31 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
32 intellectual disability, mild 56 32 Frequent (79-30%) HP:0001256
33 laryngomalacia 56 32 Occasional (29-5%) HP:0001601
34 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
35 cleft palate 56 32 Very frequent (99-80%) HP:0000175
36 long philtrum 56 32 Frequent (79-30%) HP:0000343
37 micrognathia 56 32 Occasional (29-5%) HP:0000347
38 strabismus 56 32 Occasional (29-5%) HP:0000486
39 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
40 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
41 epicanthus 56 32 Very frequent (99-80%) HP:0000286
42 abnormality of the thorax 56 32 Occasional (29-5%) HP:0000765
43 acne 56 32 Frequent (79-30%) HP:0001061
44 abnormality of the aortic valve 56 32 Occasional (29-5%) HP:0001646
45 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
46 autism 56 32 Occasional (29-5%) HP:0000717
47 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
48 anxiety 56 32 Occasional (29-5%) HP:0000739
49 autoimmunity 56 32 Occasional (29-5%) HP:0002960
50 cholelithiasis 56 32 Occasional (29-5%) HP:0001081

Drugs & Therapeutics for Velocardiofacial Syndrome

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

(show top 50) (show all 84)
id 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 Phase 4 50-67-9 5202
14 Serotonin Agents Phase 4
15 Serotonin Antagonists Phase 4
16 Tranquilizing Agents Phase 4
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
18 Tocopherols Phase 2, Phase 3
19 Tocotrienols Phase 2, Phase 3
20 Vitamins Phase 2, Phase 3
21 Calcium, Dietary Phase 3,Phase 2,Phase 1
22 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
23 Tocopherol Nutraceutical Phase 2, Phase 3
24 Tocotrienol Nutraceutical Phase 2, Phase 3
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
27
Melphalan Approved Phase 2 148-82-3 4053 460612
28
Thiotepa Approved Phase 2 52-24-4 5453
29
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
30
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
31
Daclizumab Approved, Investigational Phase 1, Phase 2 152923-56-3
32
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
33
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
34
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
36
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
37
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
38
Vidarabine Approved Phase 2 24356-66-9 32326 21704
39 Hormones Phase 1, Phase 2
40 Alkylating Agents Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Antineoplastic Agents, Alkylating Phase 2
44 Immunosuppressive Agents Phase 2,Phase 1
45 Anesthetics Phase 2,Phase 1
46 Analgesics Phase 1, Phase 2
47 Analgesics, Non-Narcotic Phase 1, Phase 2
48 Anti-Bacterial Agents Phase 1, Phase 2
49 Antibiotics, Antitubercular Phase 1, Phase 2
50 Antiemetics Phase 1, Phase 2

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
2 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
3 Effects of PTH Replacement on Bone in Hypoparathyroidism Active, not recruiting NCT00395538 Phase 3
4 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
5 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
6 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
7 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2
8 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
9 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2
10 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1
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 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
15 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
16 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
17 Cognitive Remediation in 22q11DS Completed NCT01781923
18 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
19 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189
20 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
21 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
22 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
23 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361
24 Microarray Analysis in Syndromic Obesity Completed NCT01043198
25 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
26 Non-Invasive Chromosomal Evaluation of 22q11.2 Recruiting NCT02541058
27 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
28 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
29 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Active, not recruiting NCT02634671
30 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
31 Thymus Transplantation Safety-Efficacy Available NCT01220531
32 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Enrolling by invitation NCT02890472
33 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

Search NIH Clinical Center for Velocardiofacial Syndrome

Genetic Tests for Velocardiofacial Syndrome

Genetic tests related to Velocardiofacial Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen Syndrome 29
2 22q11.2 Deletion Syndrome 24 TBX1
3 Sedlackova Syndrome 24
4 Velocardiofacial Syndrome 24

Anatomical Context for Velocardiofacial Syndrome

MalaCards organs/tissues related to Velocardiofacial Syndrome:

39
Heart, Kidney, Thymus, T Cells, Lung, Brain, Tonsil

Publications for Velocardiofacial Syndrome

Articles related to Velocardiofacial Syndrome:

(show top 50) (show all 207)
id Title Authors Year
1
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. ( 28059126 )
2017
2
Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis. ( 26864886 )
2016
3
Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty. ( 27732116 )
2016
4
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease. ( 26409294 )
2015
5
Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging. ( 26031215 )
2015
6
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. ( 23342150 )
2013
7
Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit/hyperactivity disorder: A pilot study. ( 24377834 )
2013
8
Internal carotid artery variations in velocardiofacial syndrome patients and its implications for surgery. ( 23969952 )
2013
9
Extensive pneumatization of the ethmoid sinus in a case of velocardiofacial syndrome. ( 24366697 )
2013
10
Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. ( 23000736 )
2012
11
An algorithm for application of furlow palatoplasty to the treatment of velocardiofacial syndrome-associated velopharyngeal insufficiency. ( 21451369 )
2011
12
Discussion. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532432 )
2011
13
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. ( 21195387 )
2011
14
Speech outcomes and velopharyngeal function after surgical treatment of velopharyngeal insufficiency in individuals with signs of velocardiofacial syndrome. ( 21959422 )
2011
15
Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. ( 21820188 )
2011
16
Dental development and tooth agenesis in children with velocardiofacial syndrome. ( 21689177 )
2011
17
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. ( 21532431 )
2011
18
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. ( 22149470 )
2011
19
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. ( 21305558 )
2011
20
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
21
Cognitive phenotype of velocardiofacial syndrome: a review. ( 21764255 )
2011
22
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. ( 21602040 )
2011
23
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 21200182 )
2011
24
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). ( 20125192 )
2010
25
Craniofacial morphology in patients with velocardiofacial syndrome. ( 20426673 )
2010
26
Velocardiofacial syndrome presenting as chronic mania. ( 21105957 )
2010
27
Quality of life among children with velocardiofacial syndrome. ( 20426676 )
2010
28
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). ( 20472505 )
2010
29
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. ( 20503320 )
2010
30
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). ( 19302762 )
2009
31
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. ( 19816377 )
2009
32
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. ( 20030804 )
2009
33
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. ( 19376197 )
2009
34
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? ( 19695908 )
2009
35
Stranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology. ( 19855217 )
2009
36
Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. ( 19299897 )
2009
37
Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. ( 19881378 )
2009
38
Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. ( 19720406 )
2009
39
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). ( 19819113 )
2009
40
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. ( 19307682 )
2009
41
Clicks produced as compensatory articulations in two adolescents with velocardiofacial syndrome. ( 18616363 )
2008
42
Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. ( 19015444 )
2008
43
Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. ( 18554940 )
2008
44
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. ( 18162840 )
2008
45
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. ( 18179902 )
2008
46
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
47
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. ( 18788013 )
2008
48
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. ( 18424337 )
2008
49
Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. ( 18314073 )
2008
50
Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. ( 18333642 )
2008

Variations for Velocardiofacial Syndrome

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 NM_080647.1(TBX1): c.928G> A (p.Gly310Ser) single nucleotide variant Pathogenic rs41298838 GRCh37 Chromosome 22, 19753444: 19753444
2 TBX1 TBX1, 23-BP DEL, NT1320 deletion Pathogenic
3 TBX1 NM_080647.1(TBX1): c.582C> G (p.His194Gln) single nucleotide variant Pathogenic rs74315522 GRCh37 Chromosome 22, 19751747: 19751747

Copy number variations for Velocardiofacial Syndrome from CNVD:

7 (show top 50) (show all 67)
id 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

Expression for Velocardiofacial Syndrome

Search GEO for disease gene expression data for Velocardiofacial Syndrome.

Pathways for Velocardiofacial Syndrome

GO Terms for Velocardiofacial Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 GP1BA GP1BB GP9 JMJD1C
2 platelet activation GO:0030168 9.54 GP1BA GP1BB GP9
3 anatomical structure morphogenesis GO:0009653 9.5 GSC2 HIRA MRPL40
4 cell adhesion GO:0007155 9.43 ARVCF DGCR2 DGCR6 GP1BA GP1BB GP9
5 face morphogenesis GO:0060325 9.4 CLDN5 TBX1
6 hemostasis GO:0007599 9.33 GP1BA GP1BB GP9
7 blood coagulation, intrinsic pathway GO:0007597 8.8 GP1BA GP1BB GP9

Sources for Velocardiofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....