ADOS
MCID: VLC001
MIFTS: 66

Velocardiofacial Syndrome (ADOS) malady

Genetic diseases, Rare diseases, Immune diseases, Neuronal diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Velocardiofacial Syndrome

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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 based summary: Velocardiofacial Syndrome, also known as conotruncal anomaly face syndrome, is related to hypoparathyroidism and hyperprolinemia, and has symptoms including Array 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:9 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...

Descriptions from OMIM:46 192430,145410,217095

GeneReviews summary for gr_22q11deletion

Aliases & Classifications for Velocardiofacial Syndrome

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Velocardiofacial Syndrome, Aliases & Descriptions:

Name: Velocardiofacial Syndrome 9 10 64 42 21 22 46 11 44
Conotruncal Anomaly Face Syndrome 64 42 21 23 22 46 61
Autosomal Dominant Opitz G/bbb Syndrome 64 42 21 22 48 46
22q11.2 Deletion Syndrome 64 20 42 21 22 61
Shprintzen Syndrome 9 64 42 23 22 61
Cayler Cardiofacial Syndrome 42 21 22 46
Velo-Cardio-Facial Syndrome 22 44 61
Deletion 22q11.2 Syndrome 9 22 61
Sedlackova Syndrome 42 21 22
Digeorge Syndrome 42 22 61
22q11.2ds 20 22 61
 
Chromosome 22q11.2 Deletion Syndrome 42 61
Vcf-Velocardiofacial Syndrome 9 61
22q11 Deletion Syndrome 9 61
Catch22 42 22
Vcfs 42 22
Autosomal Dominant Opitz Bbb/g Syndrome 48
Autosomal Dominant Opitz G-Bbb Syndrome 61
Autosomal Dominant Opitz Syndrome 48
Caylor Cardiofacial Syndrome 64
Di George Syndrome 61
Ados 48


Classifications:



External Ids:

Disease Ontology9 DOID:12583
SNOMED-CT56 205642004, 83092002
ICD9CM28 758.32
ICD10 via Orphanet27 Q87.8
ICD1026 D82.1

Related Diseases for Velocardiofacial Syndrome

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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 166)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism31.2DGCR2, TBX1
2hyperprolinemia30.9PRODH
3cleft palate30.6TBX1
4schizophrenia30.5ARVCF, TBX1, COMT, PRODH
5congenital heart disease30.3COMT, TBX1
6psychotic disorder30.3PRODH, COMT
7tetralogy of fallot30.2GDF1, GATA6
8ventricular septal defect30.2TBX1, GDF1
9digeorge syndrome10.7
10pharyngitis10.4
11opitz-gbbb syndrome10.4
12situs inversus10.4
13polyhydramnios10.4
14schizotypal personality disorder10.3
15personality disorder10.3
16chromosome 22q11.2 deletion syndrome, distal10.3
17goldberg-shprintzen megacolon syndrome10.3
18attention deficit hyperactivity disorder10.3
19digeorge syndrome/velocardiofacial syndrome complex-210.3
20severe combined immunodeficiency10.3
21graves' disease10.3
22esophageal atresia10.3
23esophagitis10.3
24monosomy 2210.3
25right aortic arch10.3
26microcephaly10.2
27mowat-wilson syndrome10.2
28arthritis10.2
29cervicitis10.2
30velocardiofacial syndrome 210.2
31bernard-soulier syndrome10.2
32charge syndrome10.2
33clubfoot10.2
34duane retraction syndrome10.2
35psoriasis10.2
36developmental disabilities10.2
37murcs association10.2
38precocious puberty10.2
39craniosynostosis10.2
40hemolytic anemia10.2
41thrombocytopenia10.2
42generalized anxiety disorder10.2
43autoimmune hemolytic anemia10.2
44amenorrhea10.2
45central sleep apnea10.2
46corneal staphyloma10.2
47pleomorphic xanthoastrocytoma10.2
48artemis deficiency10.2
49microphthalmia10.2
50schizophreniform disorder10.2

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



Diseases related to velocardiofacial syndrome

Symptoms for Velocardiofacial Syndrome

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Symptoms by clinical synopsis from OMIM:

192430

Clinical features from OMIM:

192430,145410,217095

HPO human phenotypes related to Velocardiofacial Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 impaired t cell function rare (5%) HP:0005435
2 delayed speech and language development HP:0000750
3 nasal speech HP:0001611
4 abnormality of cardiac morphology HP:0001627
5 hypocalcemia HP:0002901
6 t lymphocytopenia HP:0005403
7 autosomal dominant inheritance HP:0000006
8 inguinal hernia HP:0000023
9 cleft palate HP:0000175
10 open mouth HP:0000194
11 pierre-robin sequence HP:0000201
12 velopharyngeal insufficiency HP:0000220
13 microcephaly HP:0000252
14 retrognathia HP:0000278
15 bulbous nose HP:0000414
16 underdeveloped nasal alae HP:0000430
17 blepharophimosis HP:0000581
18 abnormality of the ear HP:0000598
19 posterior embryotoxon HP:0000627
20 aggressive behavior HP:0000718
21 mood swings HP:0000720
22 abnormality of the endocrine system HP:0000818
23 abnormality of the hand HP:0001155
24 intellectual disability HP:0001249
25 muscular hypotonia HP:0001252
26 specific learning disability HP:0001328
27 umbilical hernia HP:0001537
28 nasal speech HP:0001611
29 ventricular septal defect HP:0001629
30 tetralogy of fallot HP:0001636
31 right aortic arch with mirror image branching HP:0002627
32 recurrent infections HP:0002719
33 hypocalcemia HP:0002901
34 short stature HP:0004322
35 unilateral primary pulmonary dysgenesis HP:0006549
36 paranoia HP:0011999

Drugs & Therapeutics for Velocardiofacial Syndrome

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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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Genetic tests related to Velocardiofacial Syndrome:

id Genetic test Affiliating Genes
1 22q11.2 Deletion Syndrome21 TBX1
2 Velocardiofacial Syndrome21
3 Opitz G/bbb Syndrome, Autosomal Dominant21
4 Cayler Cardiofacial Syndrome21
5 Conotruncal Anomaly Face Syndrome21 23
6 Sedlackova Syndrome21
7 Shprintzen Syndrome23

Anatomical Context for Velocardiofacial Syndrome

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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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MGI Mouse Phenotypes related to Velocardiofacial Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.0UFD1L, NKX2-6, TBX1, GATA6, GDF1
2MP:00053808.5GATA6, TBX1, NKX2-6, COMT, GDF1

Publications for Velocardiofacial Syndrome

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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
Quality of life among children with velocardiofacial syndrome. (20426676)
2010
7
Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. (19816377)
2009
8
Hypocalcaemia as presenting symptom of velocardiofacial syndrome. (19307682)
2009
9
Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). (19302762)
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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UniProtKB/Swiss-Prot genetic disease variations for Velocardiofacial Syndrome:

63
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:

7
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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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

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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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Sources:
50PharmGKB, 44Novoseek, 25HMDB, 12DrugBank
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Compounds related to Velocardiofacial Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bupropion50 44 25 1212.5ARVCF, COMT

GO Terms for genes affiliated with Velocardiofacial Syndrome

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet