Velocardiofacial Syndrome malady

NIH Rare Diseases: 22q11.2 deletion syndrome is a spectrum disorder encompassing what was formerly called DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and cases of Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.  It is characterized by a variety of symptoms, including cleft palate, heart defects, unique facial characteristics, learning and feeding problems, immune system disorders, hypoparathyroidism, and scoliosis. Symptoms can vary greatly from patient to patient. It is caused by a missing piece (deletion) of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. Click here to view a diagram of chromosome 22.³⁰

MalaCards: Velocardiofacial Syndrome, also known as shprintzen syndrome, is related to schizophrenia and conotruncal anomaly face syndrome. An important gene associated with Velocardiofacial Syndrome is GP1BB (glycoprotein Ib (platelet), beta polypeptide), and among its related pathways is Platelet Aggregation (Plug Formation). The compounds ristocetin and L-Lysine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and myeloid.

Genetics Home Reference: 22q11.2 deletion syndrome 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 q11.2.¹⁷

Wikipedia: 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge...⁴⁴ more...

OMIM: 192430

GeneReviews summary for gr_22q11deletion

Aliases & Descriptions:

velocardiofacial syndrome 6 7 44 30 16 17 8 33 32 shprintzen syndrome 6 44 30 16 17 43 22q11.2 deletion syndrome 44 15 30 16 17 autosomal dominant opitz g/bbb syndrome 44 30 16 17 conotruncal anomaly face syndrome 44 30 43 sedlackova syndrome 30 16 17 digeorge syndrome 30 17 43 catch22 30 16 17 vcfs 30 16 17 cayler cardiofacial syndrome 30 17

velo-cardio-facial syndrome 17 32 hypertelorism with esophageal abnormality and hypospadias 16 conotruncal anomaly face syndrome (ctaf) 17 chromosome 22q11.2 deletion syndrome 30 vcf-velocardiofacial syndrome 6 caylor cardiofacial syndrome 44 deletion 22q11.2 syndrome 6 chromosome deletion 43 del 22q11.2 16 22q11.2ds 16

Disease types for velocardiofacial syndrome family:

velocardiofacial syndrome 2

Diseases related to velocardiofacial syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 210)

id	Related Disease	Score	Top Affiliating Genes
1	schizophrenia	31.2	ARVCF, COMT, DGCR6, PRODH
2	conotruncal anomaly face syndrome	29.2	UFD1L, TBX1, CTHM, DGCR
3	faces syndrome	28.8	DGCR, CTHM, TBX1, UFD1L
4	hyperprolinemia	28.6	COMT, PRODH
5	thrombocytopenia	26.5	IGSF3, GP1BB, GP1BA, GP9, CD79A
6	digeorge syndrome	23.0	NKX2-6, GSC, CDC45, CD79A, MRPL40, CECR2
7	conotruncal heart malformations	13.3	TBX1, NKX2-6
8	blood platelet disease	13.1	GP1BB, GP1BA, GP9
9	macrothrombocytopenia	13.1	GP9, GP1BA, GP1BB
10	bernard-soulier syndrome	13.1	GP1BB, GP1BA, GP9
11	ulnar-mammary syndrome	12.8	TBX1, TBX5
12	holt-oram syndrome	12.8	TBX1, TBX5
13	tetralogy of fallot	12.7	DGCR, HIRA, TBX1, UFD1L, CLTCL1, ZNF74
14	atrioventricular septal defect	12.4	ZNF74, CLTCL1, TBX1, TBX5
15	heparin-induced thrombocytopenia	12.3	IGSF3, GP1BA, CD79A
16	congenital heart defect	12.3	TBX1, TBX5, COMT
17	ventricular septal defect	12.3	HIRA, TBX5, TBX1, CLTCL1, ZNF74
18	pharyngitis	11.7	NKX2-6, DGCR6L, DGCR6, DGCR, TBX5, TBX1
19	2q37 deletion syndrome	9.1
20	kleefstra syndrome	8.6
21	chromosome 1q41-q42 deletion syndrome	7.9
22	myelodysplastic syndrome	7.8
23	phelan-mcdermid syndrome	7.7
24	chromosome 19q13.11 deletion syndrome	7.7
25	thrombocytopenia-absent radius syndrome	7.7
26	velocardiofacial syndrome 2	7.5
27	distal chromosome 18q deletion syndrome	7.3
28	jacobsen syndrome	7.3
29	opitz g/bbb syndrome	7.3
30	proximal chromosome 18q deletion syndrome	7.3
31	17q21.31 microdeletion syndrome	7.3
32	chromosome 10q26 deletion syndrome	7.3
33	chromosome 2q31.2 deletion syndrome	7.3
34	chromosome 2q32-q33 deletion syndrome	7.3
35	mesomelia-synostoses syndrome	7.1
36	synostoses syndrome	7.1
37	deafness and male infertility	7.1
38	infertility	7.1
39	male infertility	7.1
40	mesomelia	7.1
41	goldberg-shprintzen megacolon syndrome	7.0
42	digeorge syndrome/velocardiofacial syndrome complex	7.0
43	digeorge syndrome/velocardiofacial syndrome complex-2	7.0
44	hypoparathyroidism	6.8
45	chromosome 1q42-q44 deletion syndrome	6.8
46	chromosome 4q21 deletion syndrome	6.8
47	chromosome 6q11-q14 deletion syndrome	6.8
48	chromosome 6q25-q25 deletion syndrome	6.8
49	15q13.3 microdeletion	6.8
50	deafness-infertility syndrome	6.8

Clinical features from OMIM: 192430

Approved drugs:

Drug clinical trials:

Genetic tests related to velocardiofacial syndrome:

id	Genetic test	Affiliating Genes
1	Velocardiofacial Syndrome clinical/research	TBX1

MalaCards organs/tissues related to velocardiofacial syndrome:

²²

Articles related to velocardiofacial syndrome:

(show all 15)

id	Title	Authors	Year	Affiliating Genes
1	Congenital absence of the nasolacrimal duct in velocardiofacial syndrome. (18314073)	Prabhakaran V.C.... Selva D.	2008	TBX1
2	Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). (17343558)	Aneja A.... Kates W.R.	2007	TBX1
3	Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. (18064328)	Liang H.P.... Ward C.M.	2007	GP9, GP1BA, GP1BB
4	Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome. (16734939)	Gothelf D.... Weizman A.	2007	COMT
5	Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. (16930005)	Driscoll D.A.	2006	TBX1
6	Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (11713452)	Jawad A.F.... Sullivan K.E.	2001	DGCR
7	Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. (10364538)	Wadey R.... Scambler P.	1999	UFD1L
8	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)	Gottlieb S.... Budarf M.L.	1998	GSC2
9	t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. (9600980)	Megonigal M.D.... Felix C.A.	1998	MLL, SEPT5
10	Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (9606003)	Smith C.A.... Sullivan K.E.	1998	CD79A
11	Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. (9773854)	Van Geet C.... Hoylaerts M.F.	1998	GP1BB
12	Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. (9811927)	Saint-Jore B.... Skoultchi A.I.	1998	GSC
13	The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. (9598310)	Sperandeo M.P.... Sebastio G.	1998	TBX1, SLC7A4
14	Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (8660975)	Goldmuntz E.... Budarf M.L.	1996	SLC25A1
15	Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (8703114)	Rizzu P.... Baldini A.	1996	DGCR14

Genes related to velocardiofacial syndrome according to GeneCards:

(show all 46)

id	Symbol	Description	Score	GeneCards Section Context
1	GP1BB	glycoprotein Ib (platelet), beta polypeptide	11.1	Publications, Aliases & Descriptions, Summaries
2	CLDN5	claudin 5	11.1	Summaries, Functions, Aliases & Descriptions
3	MRPL40	mitochondrial ribosomal protein L40	11.1	Aliases & Descriptions, Disorders
4	DGS2	DiGeorge syndrome/velocardiofacial syndrome complex 2	11.1	Aliases & Descriptions
5	TBX1	T-box 1	11.1	Summaries, Publications
6	ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	11.1	Functions, Aliases & Descriptions, Orthologs
7	DGCR	DiGeorge syndrome chromosome region	11.1	Summaries, Publications
8	GSC2	goosecoid homeobox 2	11.1	Publications, Summaries
9	DGCR14	DiGeorge syndrome critical region gene 14	11.1	Summaries, Publications
10	DGCR2	DiGeorge syndrome critical region gene 2	11.1	Summaries
11	VCF	velocardiofacial syndrome	11.1	Aliases & Descriptions
12	SEPT5	septin 5	11.0	Summaries, Publications
13	UFD1L	ubiquitin fusion degradation 1 like (yeast)	11.0	Publications
14	PRODH	proline dehydrogenase (oxidase) 1	11.0
15	HIRA	HIR histone cell cycle regulation defective homolog A (S. cerevisiae)	11.0
16	COMT	catechol-O-methyltransferase	11.0	Publications
17	CTHM	cono-truncal heart malformation	11.0
18	POM121L7	POM121 transmembrane nucleoporin-like 7	11.0	Disorders
19	IGLC1	immunoglobulin lambda constant 1 (Mcg marker)	11.0
20	GSC	goosecoid homeobox	11.0	Publications
21	SMCP	sperm mitochondria-associated cysteine-rich protein	11.0	Disorders
22	NKX2-6	NK2 homeobox 6	11.0
23	DGCR6L	DiGeorge syndrome critical region gene 6-like	11.0
24	HIRIP3	HIRA interacting protein 3	11.0	Disorders
25	SLC7A4	solute carrier family 7 (orphan transporter), member 4	11.0	Publications
26	GP9	glycoprotein IX (platelet)	11.0	Publications
27	APOL2	apolipoprotein L, 2	11.0	Disorders
28	TCHP	trichoplein, keratin filament binding	11.0	Disorders
29	C11orf58	chromosome 11 open reading frame 58	11.0	Disorders
30	DGCR6	DiGeorge syndrome critical region gene 6	11.0
31	SLC25A1	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	11.0	Publications, Disorders
32	RANBP1	RAN binding protein 1	11.0	Disorders
33	ZNF74	zinc finger protein 74	11.0
34	GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	11.0
35	STMN2	stathmin-like 2	11.0	Disorders
36	CDC45	cell division cycle 45 homolog (S. cerevisiae)	11.0	Disorders
37	CECR2	cat eye syndrome chromosome region, candidate 2	11.0	Disorders
38	KIAA1279	KIAA1279	11.0	Disorders
39	GP1BA	glycoprotein Ib (platelet), alpha polypeptide	11.0	Publications
40	MED15	mediator complex subunit 15	11.0
41	SLC7A2	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	11.0	Disorders
42	IGSF3	immunoglobulin superfamily, member 3	11.0
43	CLTCL1	clathrin, heavy chain-like 1	11.0
44	TBX5	T-box 5	11.0
45	MLL	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	11.0	Publications
46	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications

Pathways related to velocardiofacial syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Platelet Aggregation (Plug Formation)38	9.9	GP9, GP1BA, GP1BB

Compounds related to velocardiofacial syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ristocetin32	9.6	GP9, GP1BA, GP1BB
2	L-Lysine9 18 9	11.1	MLL, SLC7A2, SLC7A4

Biological processes related to velocardiofacial syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle organ morphogenesis	GO:048644	9.9	GSC, TBX1
2	blood coagulation, intrinsic pathway	GO:007597	9.9	GP9, GP1BA, GP1BB
3	pericardium development	GO:060039	9.7	TBX5, NKX2-6
4	anatomical structure morphogenesis	GO:009653	9.5	HIRA, GSC2, MRPL40, CLTCL1

Molecular functions related to velocardiofacial syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	basic amino acid transmembrane transporter activity	GO:015174	9.9	SLC7A2, SLC7A4