ADOS
MCID: VLC001
MIFTS: 57

Velocardiofacial Syndrome (ADOS) malady

Neuronal, Eye, Fetal, Cardiovascular categories

Summaries for Velocardiofacial Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: 1/30/2014

MalaCards: Velocardiofacial Syndrome, also known as conotruncal anomaly face syndrome, is related to digeorge syndrome and hyperprolinemia. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-box 1). The compound bupropion have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and heart.

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:64 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge... more...

Description from OMIM:47 192430,145410,217095

GeneReviews summary for gr_22q11deletion

Aliases & Classifications for Velocardiofacial Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Cardiovascular


Aliases & Descriptions:

velocardiofacial syndrome 8 9 64 20 21 47 10 45
conotruncal anomaly face syndrome 64 43 20 22 21 47 61
autosomal dominant opitz g/bbb syndrome 64 43 20 21 49 47
22q11.2 deletion syndrome 64 19 43 20 21
shprintzen syndrome 8 64 22 21 61
cayler cardiofacial syndrome 43 20 21 47
velo-cardio-facial syndrome 21 45
deletion 22q11.2 syndrome 8 21
22q11 deletion syndrome 8 61
digeorge syndrome 21 61
22q11.2ds 19 21
catch22 43 21
autosomal dominant opitz bbb/g syndrome 49
chromosome 22q11.2 deletion syndrome 43
autosomal dominant opitz syndrome 49
vcf-velocardiofacial syndrome 8
caylor cardiofacial syndrome 64
sedlackova syndrome 21
chromosome deletion 61
vcfs 21
ados 49


External Ids:

Disease Ontology8 DOID:12583
ICD9CM27 758.32
SNOMED-CT57 83092002, 205642004
ICD10 via Orphanet26 Q87.8

Related Diseases for Velocardiofacial Syndrome

Sources:
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 292)
idRelated DiseaseScoreTop Affiliating Genes
1digeorge syndrome31.3GSC2, SEPT5, DGCR, POM121L7, TBX1, PRODH
2hyperprolinemia30.2PRODH
3velocardiofacial syndrome 210.9
4digeorge syndrome 210.8
5chromosome 22q deletion10.7
6n syndrome10.7
7hypoparathyroidism10.5
8shprintzen-goldberg syndrome10.4
9polymicrogyria10.4
10situs inversus10.4
11polyhydramnios10.3
12fg syndrome10.3
13fg syndrome 210.3
14schizotypal personality disorder10.3
15opitz-gbbb syndrome10.3
16charge syndrome10.3
17chromosome 22q11.2 deletion syndrome, distal10.3
18hirschsprung's disease10.3
19goldberg-shprintzen megacolon syndrome10.3
20osteopetrosis10.3
21patent ductus arteriosus10.3
22infertility10.3
23attention deficit hyperactivity disorder10.2
24micro syndrome10.2
25char syndrome10.2
26esophageal atresia10.2
27graves' disease10.2
28microcephaly10.2
29sedlackova syndrome10.2
30aniridia10.2
31wolf-hirschhorn syndrome10.2
32smith magenis syndrome10.2
33jacobsen syndrome10.2
34adult syndrome10.2
35arthritis10.2
36digeorge syndrome/velocardiofacial syndrome complex-210.2
37bernard-soulier syndrome10.1
38clubfoot10.1
39duane retraction syndrome10.1
40pachygyria10.1
41precocious puberty10.1
42murcs association10.1
43star syndrome10.1
44generalized anxiety disorder10.1
45schizophreniform disorder10.1
46autistic disorder10.1
47corneal staphyloma10.1
48amenorrhea10.1
49artemis deficiency10.1
50central sleep apnea10.1

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



Diseases related to velocardiofacial syndrome

Clinical Features for Velocardiofacial Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

192430,145410,217095

Clinical synopsis from OMIM:

192430

Drugs & Therapeutics for Velocardiofacial Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Velocardiofacial Syndrome

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Velocardiofacial Syndrome:

33
Brain, Kidney, Heart, Myeloid, T cells, Parietal lobe, Temporal lobe, Caudate nucleus

Animal Models for Velocardiofacial Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Velocardiofacial Syndrome

Sources:
51PubMed
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Articles related to Velocardiofacial Syndrome:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Gyrification differences in children and adolescents with velocardiofacial syndrome and attention-deficit/hyperactivity disorder: A pilot study. (24377834)
2013
2
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. (22149470)
2011
3
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. (21305558)
2011
4
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
5
Quality of life among children with velocardiofacial syndrome. (20426676)
2010
6
Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. (19299897)
2009
7
Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. (19881378)
2009
8
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. (18162840)
2008
9
Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. (18314073)
2008
10
Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. (19015444)
2008
11
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
12
The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). (17618656)
2007
13
DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome. (17712990)
2007
14
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome). (17355478)
2007
15
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome. (16734939)
2007
16
Velocardiofacial syndrome. (17562586)
2007
17
Surgical outcomes for velopharyngeal insufficiency in velocardiofacial syndrome and nonsyndromic patients. (17608543)
2007
18
The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. (16307864)
2006
19
Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. (16930005)
2006
20
A biologic model to study the genetics of psychotic, mood, and anxiety disorders: the velocardiofacial syndrome. (16539882)
2006
21
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (16532473)
2006
22
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. (15853951)
2005
23
Brown syndrome associated with velocardiofacial syndrome. (15226737)
2004
24
Surgical significance of abnormal internal carotid arteries in velocardiofacial syndrome in 43 consecutive hynes pharyngoplasties. (15222783)
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
Velocardiofacial syndrome presenting as distal arthrogryposis. (15346917)
2004
27
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. (12634857)
2003
28
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence. (12725586)
2003
29
Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. (14514502)
2003
30
Pharyngeal flap and the internal carotid in velocardiofacial syndrome. (12020200)
2002
31
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. (11726551)
2001
32
Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). (11339378)
2001
33
Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. (10698817)
2000
34
Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2. (10704284)
2000
35
Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. (10883607)
2000
36
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. (10364538)
1999
37
Musculoskeletal abnormalities in velocardiofacial syndrome. (10488860)
1999
38
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). (10890147)
1999
39
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (10548584)
1999
40
Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. (9811927)
1998
41
CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. (9216164)
1997
42
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (9082929)
1997
43
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. (9192263)
1997
44
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. (9129733)
1997
45
Velocardiofacial syndrome. (9497944)
1997
46
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. (8911598)
1996
47
Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2? (8862634)
1996
48
Is pharyngoplasty a risk in velocardiofacial syndrome? An assessment of medially displaced carotid arteries. (8942903)
1996
49
The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome. (8618993)
1996
50
Velocardiofacial syndrome and DiGeorge sequence. (8064827)
1994

Genetic Variations for Velocardiofacial Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Velocardiofacial Syndrome:

63
id Symbol AA change Variation SNP ID
1TBX1p.Phe148TyrVAR_035025rs28939675
2TBX1p.His194GlnVAR_035026

Expression for genes affiliated with Velocardiofacial Syndrome

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

Search GEO for disease gene expression data for Velocardiofacial Syndrome.

Pathways for genes affiliated with Velocardiofacial Syndrome

Compounds for genes affiliated with Velocardiofacial Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion45 50 11 2413.3ARVCF, COMT

GO Terms for genes affiliated with Velocardiofacial Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ morphogenesisGO:04864410.3GSC, TBX1
2middle ear morphogenesisGO:04247410.3GSC, TBX1
3anatomical structure morphogenesisGO:00965310.0GSC2, HIRA, MRPL40
4gastrulationGO:0073699.9GSC, HIRA

Products for genes affiliated with Velocardiofacial Syndrome

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Sources for Velocardiofacial Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet