ADOS
MCID: VLC001
MIFTS: 63

Velocardiofacial Syndrome (ADOS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Velocardiofacial Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 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: 3/11/2014

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

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:65 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

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8Disease Ontology, 9diseasecard, 65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 22GTR, 62UMLS, 19GeneReviews, 49Orphanet, 35MeSH, 27ICD9CM, 58SNOMED-CT, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

velocardiofacial syndrome 8 9 65 43 20 21 47 10 45
conotruncal anomaly face syndrome 65 43 20 22 21 47 62
autosomal dominant opitz g/bbb syndrome 65 43 20 21 49 47
shprintzen syndrome 8 65 43 22 21 62
22q11.2 deletion syndrome 65 19 43 20 21
cayler cardiofacial syndrome 43 20 21 47
sedlackova syndrome 43 20 21
digeorge syndrome 43 21 62
velo-cardio-facial syndrome 21 45
deletion 22q11.2 syndrome 8 21
22q11 deletion syndrome 8 62
22q11.2ds 19 21
catch22 43 21
vcfs 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 65
chromosome deletion 62
ados 49


External Ids:

Disease Ontology8 DOID:12583
ICD9CM27 758.32
SNOMED-CT58 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 159)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9DGCR2, TBX1
2digeorge syndrome30.8SLC25A1, CTHM, DGCR2, DGCR14, TBX1, COMT
3schizophrenia30.5ARVCF, TBX1, COMT, PRODH
4hyperprolinemia30.4PRODH
5psychotic disorder30.2PRODH, COMT
6tetralogy of fallot30.2GDF1, GATA6
7cleft palate30.2TBX1
8congenital heart disease30.1COMT, TBX1
9ventricular septal defect30.0TBX1, GDF1
10pharyngitis10.4
11polymicrogyria10.4
12situs inversus10.4
13polyhydramnios10.4
14schizotypal personality disorder10.3
15opitz-gbbb syndrome10.3
16personality disorder10.3
17chromosome 22q11.2 deletion syndrome, distal10.3
18goldberg-shprintzen megacolon syndrome10.3
19attention deficit hyperactivity disorder10.3
20esophageal atresia10.2
21graves' disease10.2
22esophagitis10.2
23severe combined immunodeficiency10.2
24monosomy 2210.2
25right aortic arch10.2
26microcephaly10.2
27arthritis10.2
28cervicitis10.2
29velocardiofacial syndrome 210.2
30digeorge syndrome/velocardiofacial syndrome complex-210.2
31bernard-soulier syndrome10.2
32clubfoot10.2
33duane retraction syndrome10.2
34psoriasis10.2
35murcs association10.2
36precocious puberty10.2
37artemis deficiency10.2
38charge syndrome10.2
39central sleep apnea10.2
40microphthalmia10.2
41autoimmune hemolytic anemia10.2
42schizophreniform disorder10.2
43corneal staphyloma10.2
44amenorrhea10.2
45pleomorphic xanthoastrocytoma10.2
46generalized anxiety disorder10.2
47autism spectrum disorder10.2
48craniosynostosis10.2
49glaucoma10.2
50intellectual disability10.2

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



Diseases related to velocardiofacial syndrome

Symptoms for Velocardiofacial Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

192430

Clinical features from OMIM:

192430,145410,217095

Drugs & Therapeutics for Velocardiofacial Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Velocardiofacial Syndrome

Search NIH Clinical Center 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 Sedlackova Syndrome20
7 Shprintzen Syndrome22

Anatomical Context for Velocardiofacial Syndrome

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33MalaCards
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MalaCards organs/tissues related to Velocardiofacial Syndrome:

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

Animal Models for Velocardiofacial Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Velocardiofacial Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.0GDF1, UFD1L, NKX2-6, TBX1, GATA6
2MP:00053808.5GDF1, COMT, NKX2-6, TBX1, GATA6

Publications for Velocardiofacial Syndrome

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52PubMed
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Articles related to Velocardiofacial Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Extensive pneumatization of the ethmoid sinus in a case of velocardiofacial syndrome. (24366697)
2013
2
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. (23342150)
2013
3
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (21200182)
2011
4
Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. (21195387)
2011
5
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. (21602040)
2011
6
The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. (22149470)
2011
7
Quality of life among children with velocardiofacial syndrome. (20426676)
2010
8
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. (19816377)
2009
9
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. (19307682)
2009
10
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). (19819113)
2009
11
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. (19376197)
2009
12
Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. (18162840)
2008
13
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. (18788013)
2008
14
The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). (17618656)
2007
15
DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome. (17712990)
2007
16
Noncirrhotic portal hypertension in a child with velocardiofacial syndrome. (17935236)
2007
17
The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. (16307864)
2006
18
Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. (16930005)
2006
19
A biologic model to study the genetics of psychotic, mood, and anxiety disorders: the velocardiofacial syndrome. (16539882)
2006
20
Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS). (16266252)
2005
21
Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb. (15545748)
2004
22
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). (15224707)
2004
23
Brown syndrome associated with velocardiofacial syndrome. (15226737)
2004
24
Velocardiofacial syndrome in an unexplained XX male. (12476456)
2003
25
Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective. (12610907)
2003
26
Language skills in children with velocardiofacial syndrome (deletion 22q11.2). (12072882)
2002
27
A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. (11257239)
2001
28
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)
2001
29
Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? (11229987)
2001
30
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. (11726551)
2001
31
Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). (11339378)
2001
32
Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. (10698817)
2000
33
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
34
Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. (10883607)
2000
35
Early speech and language development in children with velocardiofacial syndrome. (10581495)
1999
36
Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2. (10337614)
1999
37
The annual incidence of DiGeorge/velocardiofacial syndrome. (9733045)
1998
38
Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. (9700206)
1998
39
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). (9809264)
1998
40
Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome). (9674319)
1998
41
Magnetic resonance angioplasty for prepharyngoplasty assessment in velocardiofacial syndrome. (9167080)
1997
42
CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. (9216164)
1997
43
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. (9329436)
1997
44
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. (8985481)
1996
45
Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (8660975)
1996
46
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. (8923941)
1996
47
Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. (8355116)
1993
48
Di George anomaly and velocardiofacial syndrome. (2314965)
1990
49
Abnormal carotid arteries in the velocardiofacial syndrome: a report of three cases. (3628565)
1987
50
Cardiac malformations in the velocardiofacial syndrome. (7416023)
1980

Variations for Velocardiofacial Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Velocardiofacial Syndrome:

64
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

Clinvar genetic disease variations for Velocardiofacial Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NKX2-6NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs)insertionPathogenicGRCh37Chr 8, 23560416: 23560417
2TBX1TBX1, 23-BP DEL, NT1320deletionPathogenic
3TBX1NM_080647.1(TBX1): c.582C> G (p.His194Gln)single nucleotide variantPathogenicrs74315522GRCh37Chr 22, 19751747: 19751747

Expression for genes affiliated with Velocardiofacial Syndrome

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database
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Pathways related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0GATA6, TBX1

Compounds for genes affiliated with Velocardiofacial Syndrome

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51PharmGKB, 45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion51 45 24 1112.5ARVCF, COMT

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
1pharyngeal system developmentGO:06003710.0TBX1, NKX2-6
2outflow tract septum morphogenesisGO:0031489.7GATA6, TBX1

Products for genes affiliated with Velocardiofacial Syndrome

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Sources for Velocardiofacial Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet