MCID: VLC001
MIFTS: 60

Velocardiofacial Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Summaries for Velocardiofacial Syndrome

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NIH Rare Diseases:41 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 shprintzen syndrome, is related to hypoparathyroidism and conotruncal heart malformations, and has symptoms including oral cleft, epicanthus and low-set, posteriorly rotated ears. 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 kidney, heart and eye, and related mouse phenotype 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.

Genetics Home Reference:21 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Description from OMIM:45 192430

GeneReviews summary for gr_22q11deletion

Aliases & Classifications for Velocardiofacial Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 27ICD9CM, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Velocardiofacial Syndrome, Aliases & Descriptions:

Name: Velocardiofacial Syndrome 45 9 10 63 41 20 21 11 43 47
Shprintzen Syndrome 9 63 41 21 47 22 60
22q11.2 Deletion Syndrome 63 19 41 20 21 47
Autosomal Dominant Opitz G/bbb Syndrome 63 41 20 21 47
Conotruncal Anomaly Face Syndrome 63 41 21 47 60
Sedlackova Syndrome 41 20 21 47
Digeorge Syndrome 41 21 47 60
Cayler Cardiofacial Syndrome 41 21 47
X-Linked Opitz Bbb/g Syndrome 41 20
Velo-Cardio-Facial Syndrome 21 43
Deletion 22q11.2 Syndrome 9 21
22q11 Deletion Syndrome 9 60
Microdeletion 22q11.2 41 47
Digeorge Sequence 41 47
Monosomy 22q11 41 47
Takao Syndrome 41 47
 
22q11.2ds 19 21
Catch 22 41 47
Catch22 41 21
22q11ds 41 47
Vcfs 41 21
Autosomal Dominant Opitz Bbb/g Syndrome 47
Chromosome 22q11.2 Deletion Syndrome 41
Autosomal Dominant Opitz Syndrome 47
Vcf-Velocardiofacial Syndrome 9
X-Linked Opitz G/bbb Syndrome 41
Caylor Cardiofacial Syndrome 63
X-Linked Opitz Syndrome 41
Opitz-Frias Syndrome 60
Ados 47
Xlos 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
velocardiofacial syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: any age


External Ids:

OMIM45 192430
Disease Ontology9 DOID:12583
ICD9CM27 758.32
SNOMED-CT55 205642004, 83092002
Orphanet47 567, 306588
MESH via Orphanet34 D058165
ICD10 via Orphanet26 D82.1, Q87.8
UMLS via Orphanet61 C0012236, C0220704, C0795907 C2936346, C3266101, more

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 Suite gene sharing:

(show top 50)    (show all 164)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism31.3TBX1, DGCR2
2conotruncal heart malformations31.3TBX1, NKX2-6
3hyperprolinemia30.9PRODH
4schizophrenia30.7COMT, PRODH
5tetralogy of fallot30.4HIRA, CTHM, TBX1
6congenital heart disease30.3TBX1, COMT
7psychotic disorder30.3PRODH, COMT
8developmental disabilities30.2HIRA, MID1
9digeorge syndrome29.2SLC25A1, CTHM, DGCR2, DGCR14, GSC2, COMT
10cayler cardiofacial syndrome10.8
11chromosome 22q11.2 deletion syndrome, distal10.6
12x-linked opitz g/bbb syndrome10.5
13goldberg-shprintzen megacolon syndrome10.5
14pharyngitis10.5
15kenny-caffey syndrome10.4
16situs inversus10.4
17polyhydramnios10.4
18cleft palate, isolated10.4TBX1
19schizotypal personality disorder10.3
20personality disorder10.3
21attention deficit-hyperactivity disorder10.3
22velocardiofacial syndrome 210.3
23breast cancer10.3
24severe combined immunodeficiency10.3
25esophageal atresia10.3
26graves' disease10.3
27esophagitis10.3
28digeorge syndrome 210.3
29mowat-wilson syndrome10.2
30shprintzen-goldberg syndrome10.2
31microcephaly10.2
32arthritis10.2
33cervicitis10.2
34charge syndrome10.2
35clubfoot10.2
36duane retraction syndrome10.2
37psoriasis10.2
38murcs association10.2
39pachygyria10.2
40precocious puberty10.2
41truncus arteriosus10.2
42peters anomaly10.2
43craniosynostosis10.2
44hemolytic anemia10.2
45thrombocytopenia10.2
46artemis deficiency10.2
47central sleep apnea10.2
48microphthalmia10.2
49autoimmune hemolytic anemia10.2
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

Symptoms:

 47 (show all 98)
  • facial dysmorphism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • epicanthic folds
  • telecanthus/canthal dystopy
  • long/large/bulbous nose
  • high nasal bridge
  • cleft lip and palate
  • low set ears/posteriorly rotated ears
  • anomaly of the pharynx/pharyngeal anomaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • pulmonary valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • tetralogy of fallot/trilogy of fallot
  • common arterial trunk/truncal valve
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • aortic arches anomalies
  • thymic aplasia/hypoplasia
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal dominant inheritance
  • long face
  • flat cheek bones/malar hypoplasia
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • anomalies of teeth and dentition
  • multiple caries
  • folded helix
  • small/hypoplastic/adherent/absent ear lobe
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • short neck
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • acne/acnea
  • constipation
  • renal/kidney anomalies
  • hypoparathyroidy
  • hyperactivity/attention deficit
  • hypocalcemia
  • microcephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • strabismus/squint
  • enamel anomaly
  • anomalies of chest/thorax/trunk
  • umbilical hernia
  • upper limb polydactyly/hexadactyly
  • polydactyly of toes
  • purpura/petichiae
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • encopresis/fecal incontinence
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • splenomegaly
  • asthma/bronchospasm
  • atelectasia/pulmonary collapse
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • tricuspid valve atresia/stenosis/narrowing
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • patent ductus arteriosus
  • acute arterial hypertension/hypertensive crisis
  • varices/varicous veins/venous insufficiency
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • polycystic kidneys
  • vesicorenal/vesicoureteral reflux
  • uterine/uterus/fallopian tubes anomalies
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • hyperthyroidy
  • spina bifida
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • arthritis/synovitis/synovial proliferation
  • patella dislocation
  • autoimmunity/autoimmune reaction/autoantibodies
  • platelet disorders/thrombopathies
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality
  • stillbirth/neonatal death
  • intrauterine growth retardation

HPO human phenotypes related to Velocardiofacial Syndrome:

(show all 117)
id Description Frequency HPO Source Accession
1 oral cleft hallmark (90%) HP:0000202
2 epicanthus hallmark (90%) HP:0000286
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 prominent nasal bridge hallmark (90%) HP:0000426
5 telecanthus hallmark (90%) HP:0000506
6 upslanted palpebral fissure hallmark (90%) HP:0000582
7 abnormality of the pharynx hallmark (90%) HP:0000600
8 muscular hypotonia hallmark (90%) HP:0001252
9 abnormality of the voice hallmark (90%) HP:0001608
10 ventricular septal defect hallmark (90%) HP:0001629
11 defect in the atrial septum hallmark (90%) HP:0001631
12 tetralogy of fallot hallmark (90%) HP:0001636
13 abnormality of the pulmonary valve hallmark (90%) HP:0001641
14 truncus arteriosus hallmark (90%) HP:0001660
15 abnormality of the aorta hallmark (90%) HP:0001679
16 neurological speech impairment hallmark (90%) HP:0002167
17 abnormal nasal morphology hallmark (90%) HP:0005105
18 aplasia/hypoplasia of the thymus hallmark (90%) HP:0010515
19 long face typical (50%) HP:0000276
20 hearing impairment typical (50%) HP:0000365
21 otitis media typical (50%) HP:0000388
22 overfolded helix typical (50%) HP:0000396
23 short neck typical (50%) HP:0000470
24 ptosis typical (50%) HP:0000508
25 carious teeth typical (50%) HP:0000670
26 hypoparathyroidism typical (50%) HP:0000829
27 seborrheic dermatitis typical (50%) HP:0001051
28 acne typical (50%) HP:0001061
29 constipation typical (50%) HP:0002019
30 hypocalcemia typical (50%) HP:0002901
31 attention deficit hyperactivity disorder typical (50%) HP:0007018
32 aplasia/hypoplasia of the earlobes typical (50%) HP:0009906
33 cheekbone underdevelopment typical (50%) HP:0010669
34 multicystic kidney dysplasia occasional (7.5%) HP:0000003
35 abnormality of female internal genitalia occasional (7.5%) HP:0000008
36 cryptorchidism occasional (7.5%) HP:0000028
37 vesicoureteral reflux occasional (7.5%) HP:0000076
38 polycystic kidney dysplasia occasional (7.5%) HP:0000113
39 microcephaly occasional (7.5%) HP:0000252
40 hypertelorism occasional (7.5%) HP:0000316
41 micrognathia occasional (7.5%) HP:0000347
42 strabismus occasional (7.5%) HP:0000486
43 downslanted palpebral fissures occasional (7.5%) HP:0000494
44 cataract occasional (7.5%) HP:0000518
45 optic atrophy occasional (7.5%) HP:0000648
46 abnormality of dental enamel occasional (7.5%) HP:0000682
47 autism occasional (7.5%) HP:0000717
48 abnormality of the thorax occasional (7.5%) HP:0000765
49 hypothyroidism occasional (7.5%) HP:0000821
50 hyperthyroidism occasional (7.5%) HP:0000836
51 biliary tract abnormality occasional (7.5%) HP:0001080
52 hand polydactyly occasional (7.5%) HP:0001161
53 seizures occasional (7.5%) HP:0001250
54 holoprosencephaly occasional (7.5%) HP:0001360
55 craniosynostosis occasional (7.5%) HP:0001363
56 arthritis occasional (7.5%) HP:0001369
57 intrauterine growth retardation occasional (7.5%) HP:0001511
58 umbilical hernia occasional (7.5%) HP:0001537
59 patent ductus arteriosus occasional (7.5%) HP:0001643
60 abnormality of the aortic valve occasional (7.5%) HP:0001646
61 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
62 splenomegaly occasional (7.5%) HP:0001744
63 foot polydactyly occasional (7.5%) HP:0001829
64 thrombocytopenia occasional (7.5%) HP:0001873
65 subcutaneous hemorrhage occasional (7.5%) HP:0001933
66 asthma occasional (7.5%) HP:0002099
67 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
68 aganglionic megacolon occasional (7.5%) HP:0002251
69 spina bifida occasional (7.5%) HP:0002414
70 intestinal malrotation occasional (7.5%) HP:0002566
71 bowel incontinence occasional (7.5%) HP:0002607
72 autoimmunity occasional (7.5%) HP:0002960
73 patellar dislocation occasional (7.5%) HP:0002999
74 venous insufficiency occasional (7.5%) HP:0005293
75 chronic obstructive pulmonary disease occasional (7.5%) HP:0006510
76 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
77 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
78 feeding difficulties in infancy occasional (7.5%) HP:0008872
79 cognitive impairment occasional (7.5%) HP:0100543
80 urogenital fistula occasional (7.5%) HP:0100589
81 displacement of the external urethral meatus occasional (7.5%) HP:0100627
82 hypertensive crisis occasional (7.5%) HP:0100735
83 atelectasis occasional (7.5%) HP:0100750
84 impaired t cell function rare (5%) HP:0005435
85 delayed speech and language development HP:0000750
86 nasal speech HP:0001611
87 abnormality of cardiac morphology HP:0001627
88 hypocalcemia HP:0002901
89 t lymphocytopenia HP:0005403
90 autosomal dominant inheritance HP:0000006
91 inguinal hernia HP:0000023
92 cleft palate HP:0000175
93 open mouth HP:0000194
94 pierre-robin sequence HP:0000201
95 velopharyngeal insufficiency HP:0000220
96 microcephaly HP:0000252
97 retrognathia HP:0000278
98 bulbous nose HP:0000414
99 underdeveloped nasal alae HP:0000430
100 blepharophimosis HP:0000581
101 abnormality of the ear HP:0000598
102 posterior embryotoxon HP:0000627
103 aggressive behavior HP:0000718
104 mood swings HP:0000720
105 abnormality of the endocrine system HP:0000818
106 abnormality of the hand HP:0001155
107 intellectual disability HP:0001249
108 muscular hypotonia HP:0001252
109 specific learning disability HP:0001328
110 umbilical hernia HP:0001537
111 ventricular septal defect HP:0001629
112 tetralogy of fallot HP:0001636
113 right aortic arch with mirror image branching HP:0002627
114 recurrent infections HP:0002719
115 short stature HP:0004322
116 unilateral primary pulmonary dysgenesis HP:0006549
117 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 Opitz G/bbb Syndrome, X-Linked20 MID1
2 22q11.2 Deletion Syndrome20 TBX1
3 Velocardiofacial Syndrome20
4 Opitz G/bbb Syndrome, Autosomal Dominant20
5 Sedlackova Syndrome20
6 Shprintzen Syndrome22

Anatomical Context for Velocardiofacial Syndrome

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MalaCards organs/tissues related to Velocardiofacial Syndrome:

31
Kidney, Heart, Eye, Testes, T cells, Brain, Bone, Thymus, Uterus, Myeloid, Temporal lobe, Caudate nucleus

Animal Models for Velocardiofacial Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Velocardiofacial Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4TBX1, GSC2, NKX2-6, COMT, MID1, HIRA

Publications for Velocardiofacial Syndrome

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Articles related to Velocardiofacial Syndrome:

(show top 50)    (show all 200)
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:

62
id Symbol AA change Variation ID SNP ID
1TBX1p.Phe148TyrVAR_035025rs28939675
2TBX1p.His194GlnVAR_035026

Clinvar genetic disease variations for Velocardiofacial Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MID1NM_033290.3(MID1): c.1877T> C (p.Leu626Pro)single nucleotide variantPathogenicrs28934611GRCh37Chr X, 10417535: 10417535
2MID1NM_033290.3(MID1): c.343G> T (p.Glu115Ter)single nucleotide variantPathogenicrs104894865GRCh37Chr X, 10535245: 10535245
3MID1NM_033290.3(MID1): c.884T> C (p.Leu295Pro)single nucleotide variantPathogenicrs104894866GRCh37Chr X, 10450649: 10450649
4MID1NM_033290.3(MID1): c.712G> T (p.Glu238Ter)single nucleotide variantPathogenicrs387906719GRCh37Chr X, 10491176: 10491176
5TBX1NM_080647.1(TBX1): c.928G> A (p.Gly310Ser)single nucleotide variantPathogenicrs41298838GRCh37Chr 22, 19753444: 19753444
6TBX1TBX1, 23-BP DEL, NT1320deletionPathogenic
7TBX1NM_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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Search GEO for disease gene expression data for Velocardiofacial Syndrome.

Pathways for genes affiliated with Velocardiofacial Syndrome

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Compounds for genes affiliated with Velocardiofacial Syndrome

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Sources:
49PharmGKB, 43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Velocardiofacial Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1bupropion49 43 24 1212.9ARVCF, COMT

GO Terms for genes affiliated with Velocardiofacial Syndrome

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Cellular components related to Velocardiofacial Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.4ARVCF, DGCR14, TBX1, GSC2, NKX2-6, UFD1L

Biological processes related to Velocardiofacial Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:000738910.0TBX1, MID1
2pharyngeal system developmentGO:00600379.7TBX1, NKX2-6
3regulation of transcription from RNA polymerase II promoterGO:00063579.1HIRA, GSC2, TBX1
4anatomical structure morphogenesisGO:00096539.0GSC2, HIRA, MRPL40

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet