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:

Search ClinicalTrials for Velocardiofacial Syndrome

Search NIH Clinical Center for Velocardiofacial Syndrome

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
Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. (23000736)
2012
2
Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. (21820188)
2011
3
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. (21532431)
2011
4
An algorithm for application of furlow palatoplasty to the treatment of velocardiofacial syndrome-associated velopharyngeal insufficiency. (21451369)
2011
5
Dental development and tooth agenesis in children with velocardiofacial syndrome. (21689177)
2011
6
Speech outcomes and velopharyngeal function after surgical treatment of velopharyngeal insufficiency in individuals with signs of velocardiofacial syndrome. (21959422)
2011
7
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. (19816377)
2009
8
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? (19695908)
2009
9
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. (20030804)
2009
10
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. (18424337)
2008
11
Clicks produced as compensatory articulations in two adolescents with velocardiofacial syndrome. (18616363)
2008
12
Noncirrhotic portal hypertension in a child with velocardiofacial syndrome. (17935236)
2007
13
Temperament in velocardiofacial syndrome. (17300417)
2007
14
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. (17426930)
2007
15
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. (17041934)
2006
16
The velocardiofacial syndrome in older age: dementia and autistic features. (17100202)
2006
17
Prevalence of ADHD in children with velocardiofacial syndrome: a preliminary report. (16539884)
2006
18
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. (16007629)
2005
19
Medial displacement of the internal carotid arteries in velocardiofacial syndrome. (16309006)
2005
20
Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb. (15545748)
2004
21
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. (14708107)
2004
22
Surgical management of velopharyngeal incompetence in velocardiofacial syndrome. (14989693)
2004
23
Velocardiofacial syndrome in an unexplained XX male. (12476456)
2003
24
Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective. (12610907)
2003
25
Replacement of antipsychotic and antiepileptic medication by L-alpha-methyldopa in a woman with velocardiofacial syndrome. (12598825)
2003
26
Psychosis, electrolyte imbalance, and velocardiofacial syndrome. (12832604)
2003
27
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. (12548732)
2003
28
RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction. (11804793)
2002
29
Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). (11807885)
2002
30
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. (12081724)
2002
31
Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases. (11568927)
2001
32
Otolaryngological manifestations of velocardiofacial syndrome: a retrospective review of 35 patients. (10718420)
2000
33
Velocardiofacial syndrome. (11449784)
2000
34
Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing. (10817488)
2000
35
Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). (10875531)
2000
36
Gastrointestinal tract anomalies in velocardiofacial syndrome. (10340658)
1999
37
Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature. (10593557)
1999
38
Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome. (10658131)
1999
39
The annual incidence of DiGeorge/velocardiofacial syndrome. (9733045)
1998
40
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). (9809264)
1998
41
The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). (9801257)
1998
42
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. (9329436)
1997
43
Optometric findings in velocardiofacial syndrome. (9423991)
1997
44
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. (8985481)
1996
45
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. (8923941)
1996
46
Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence? (8863172)
1996
47
Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (8703114)
1996
48
Velocardiofacial syndrome: learning difficulties and intervention. (7473652)
1995
49
Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. (8355116)
1993
50
Cardiac malformations in the velocardiofacial syndrome. (7416023)
1980

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