ADOS
MCID: VLC001
MIFTS: 60

Velocardiofacial Syndrome (ADOS) malady

Neuronal diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Velocardiofacial Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called digeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of opitz g/bbb syndrome; and cayler cardiofacial syndrome. the features and severity can vary greatly among affected people. signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, 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. 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. last updated: 3/11/2014

MalaCards: Velocardiofacial Syndrome, also known as conotruncal anomaly face syndrome, is related to digeorge syndrome and tetralogy of fallot. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-box 1). Affiliated tissues include heart, kidney and brain.

Disease Ontology:8 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:63 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge... more...

Description from OMIM:46 192430,145410,217095

GeneReviews summary for gr_22q11deletion

Aliases & Classifications for Velocardiofacial Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

velocardiofacial syndrome 8 9 63 20 21 46 10 44
conotruncal anomaly face syndrome 63 42 20 22 21 46 60
autosomal dominant opitz g/bbb syndrome 63 42 20 21 48 46
22q11.2 deletion syndrome 63 19 42 20 21
shprintzen syndrome 8 63 22 21 60
cayler cardiofacial syndrome 42 20 21 46
velo-cardio-facial syndrome 21 44
deletion 22q11.2 syndrome 8 21
22q11 deletion syndrome 8 60
digeorge syndrome 21 60
22q11.2ds 19 21
catch22 42 21
autosomal dominant opitz bbb/g syndrome 48
chromosome 22q11.2 deletion syndrome 42
autosomal dominant opitz syndrome 48
vcf-velocardiofacial syndrome 8
caylor cardiofacial syndrome 63
sedlackova syndrome 21
chromosome deletion 60
vcfs 21
ados 48


External Ids:

Disease Ontology8 DOID:12583
ICD9CM27 758.32
SNOMED-CT56 83092002, 205642004
ICD10 via Orphanet26 Q87.8

Related Diseases for Velocardiofacial Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Velocardiofacial Syndrome family:

Velocardiofacial Syndrome 2

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

(show top 50)    (show all 284)
idRelated DiseaseScoreTop Affiliating Genes
1digeorge syndrome31.2TBX1, CTHM, DGCR
2tetralogy of fallot30.2TBX1
3hypoparathyroidism10.5
4pharyngitis10.4
5image syndrome10.4
6polymicrogyria10.4
7situs inversus10.4
8polyhydramnios10.3
9infertility10.3
10schizophrenia10.3
11schizotypal personality disorder10.3
12opitz-gbbb syndrome10.3
13personality disorder10.3
14charge syndrome10.3
15chromosome 22q11.2 deletion syndrome, distal10.3
16goldberg-shprintzen megacolon syndrome10.3
17attention deficit hyperactivity disorder10.2
18male infertility10.2
19osteopetrosis10.2
20patent ductus arteriosus10.2
21breast cancer10.2
22esophageal atresia10.2
23graves' disease10.2
24esophagitis10.2
25severe combined immunodeficiency10.2
26microcephaly10.2
27cleft palate10.1
28adult syndrome10.1
29arthritis10.1
30cervicitis10.1
31velocardiofacial syndrome 210.1
32digeorge syndrome/velocardiofacial syndrome complex-210.1
33bernard-soulier syndrome10.1
34neuronitis10.1
35clubfoot10.1
36duane retraction syndrome10.1
37psoriasis10.1
38aniridia10.1
39wolf-hirschhorn syndrome10.1
40smith magenis syndrome10.1
41generalized anxiety disorder10.1
42schizophreniform disorder10.1
43autistic disorder10.1
44corneal staphyloma10.1
45amenorrhea10.1
46artemis deficiency10.1
47central sleep apnea10.1
48microphthalmia10.1
49autoimmune hemolytic anemia10.1
50pleomorphic xanthoastrocytoma10.1

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



Diseases related to velocardiofacial syndrome

Clinical Features for Velocardiofacial Syndrome

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46OMIM
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Clinical features from OMIM:

192430,145410,217095

Clinical synopsis from OMIM:

192430

Drugs & Therapeutics for Velocardiofacial Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Velocardiofacial Syndrome

Genetic Tests for Velocardiofacial Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Velocardiofacial Syndrome:

id Genetic test Affiliating Genes
1 22q11.2 Deletion Syndrome20 TBX1
2 Velocardiofacial Syndrome20
3 Opitz G/bbb Syndrome, Autosomal Dominant20
4 Cayler Cardiofacial Syndrome20
5 Conotruncal Anomaly Face Syndrome20 22
6 Shprintzen Syndrome22

Anatomical Context for Velocardiofacial Syndrome

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32MalaCards
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MalaCards organs/tissues related to Velocardiofacial Syndrome:

32
Heart, Kidney, Brain, Eye, T cells, Myeloid, Temporal lobe, Caudate nucleus

Animal Models for Velocardiofacial Syndrome or affiliated genes

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Publications for Velocardiofacial Syndrome

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50PubMed
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Articles related to Velocardiofacial Syndrome:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. (23342150)
2013
2
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. (21195387)
2011
3
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. (21305558)
2011
4
Discussion. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. (21532432)
2011
5
Quality of life among children with velocardiofacial syndrome. (20426676)
2010
6
Velocardiofacial syndrome presenting as chronic mania. (21105957)
2010
7
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (20472505)
2010
8
Craniofacial morphology in patients with velocardiofacial syndrome. (20426673)
2010
9
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). (19302762)
2009
10
Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. (19720406)
2009
11
Stranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology. (19855217)
2009
12
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. (18788013)
2008
13
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. (18179902)
2008
14
Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. (17214538)
2007
15
Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome. (17557124)
2007
16
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. (17950858)
2007
17
Velocardiofacial syndrome with a rare t(2;22). (17551333)
2007
18
Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. (17937445)
2007
19
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (16532473)
2006
20
ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. (16670654)
2006
21
Velocardiofacial syndrome: is there a neuropsychiatric phenotype? (16539883)
2006
22
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). (15224707)
2004
23
Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features. (15523900)
2004
24
Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion). (15100636)
2004
25
Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. (15520356)
2004
26
Middle and inner ear malformations in velocardiofacial syndrome. (15389775)
2004
27
Velocardiofacial syndrome presenting as distal arthrogryposis. (15346917)
2004
28
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. (15048660)
2004
29
Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study. (14658963)
2003
30
Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome). (14616771)
2003
31
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (12699424)
2003
32
Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. (11958782)
2002
33
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)
2001
34
Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? (11229987)
2001
35
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. (11726551)
2001
36
Genetics of childhood disorders: XXV. Velocardiofacial syndrome. (11314577)
2001
37
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). (11339374)
2001
38
Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome. (11339384)
2001
39
Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. (10883607)
2000
40
Variable clinical phenotypes of velocardiofacial syndrome in a pair of brothers. (10750076)
2000
41
Velocardiofacial syndrome in childhood-onset schizophrenia. (10596254)
1999
42
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (9606003)
1998
43
Magnetic resonance angioplasty for prepharyngoplasty assessment in velocardiofacial syndrome. (9167080)
1997
44
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (9082929)
1997
45
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. (9129733)
1997
46
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. (8911598)
1996
47
Is pharyngoplasty a risk in velocardiofacial syndrome? An assessment of medially displaced carotid arteries. (8942903)
1996
48
The otolaryngologist and the patient with velocardiofacial syndrome. (8484947)
1993
49
Abnormal carotid arteries in the velocardiofacial syndrome: a report of three cases. (3628565)
1987
50
Abnormal carotid arteries in the velocardiofacial syndrome. (3628584)
1987

Genetic Variations for Velocardiofacial Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Velocardiofacial Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675
5TBX1p.Phe148TyrVAR_035025rs28939675
6TBX1p.His194GlnVAR_035026

Expression for genes affiliated with Velocardiofacial Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Velocardiofacial Syndrome

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Pathways for genes affiliated with Velocardiofacial Syndrome

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Compounds for genes affiliated with Velocardiofacial Syndrome

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GO Terms for genes affiliated with Velocardiofacial Syndrome

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16Gene Ontology
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Biological processes related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferationGO:0082849.4TBX1, NKX2-6
2pharyngeal system developmentGO:0600379.1TBX1, NKX2-6

Molecular functions related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.4TBX1, NKX2-6

Products for genes affiliated with Velocardiofacial Syndrome

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Sources for Velocardiofacial Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet