Details of Disease

General Information of Disease (ID: DISOSBTY)

• Disease Name: Velocardiofacial syndrome
• Synonyms: chromosome 22Q11.2 deletion syndrome; Shprintzen syndrome; VCF-velocardiofacial syndrome; 22q11 deletion syndrome; velocardiofacial syndrome; VCF syndrome; Shprintzen VCF syndrome; deletion 22q11.2 syndrome
• Definition: A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
• Disease Hierarchy:
  DISMOPYM: 22q11.2 deletion syndrome
  DISOSBTY: Velocardiofacial syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008644
  MESH ID: D004062
  UMLS CUI: C0220704
  OMIM ID: 192430
  MedGen ID: 65085

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDNRA	TTKRD0G	Strong	Biomarker	[1]
FGF8	TTIUF3J	Strong	Biomarker	[2]
JMJD1C	TTBISK4	Strong	GermlineModifyingMutation	[3]
SLC25A1	TTTD730	Strong	Biomarker	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRODH	DEVJIHS	Limited	Biomarker	[5]

This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DGCR2	OTEGL17Z	Limited	Biomarker	[6]
DGCR6	OTBOXM33	moderate	Biomarker	[7]
DGCR8	OT62LXE4	moderate	Biomarker	[8]
HIRA	OTON40EJ	moderate	Genetic Variation	[9]
CHRD	OTNM60Y1	Strong	Biomarker	[10]
CLTC	OTBFASMA	Strong	Biomarker	[11]
DGCR6L	OTE0Z7WM	Strong	Biomarker	[7]
GSC2	OT1CO9ED	Strong	Genetic Variation	[12]
MBD5	OTFHT4MO	Strong	Genetic Variation	[13]
MED15	OT0D0JVD	Strong	Biomarker	[14]
MRPL40	OTB2QZDY	Strong	Biomarker	[15]
MYZAP	OTAZCNBT	Strong	Biomarker	[16]
PRDM9	OTWAHLUR	Strong	Genetic Variation	[17]
RANBP1	OTQE226K	Strong	Biomarker	[18]
RREB1	OT62460U	Strong	GermlineModifyingMutation	[3]
SEC24C	OTMTJBQ1	Strong	GermlineModifyingMutation	[3]
SEPTIN5	OT6JTJBO	Strong	Biomarker	[19]
SLC7A4	OTAVC6QS	Strong	Biomarker	[20]
SNAP29	OTT30ZON	Strong	Biomarker	[21]
TBX1	OTQLBPRA	Strong	Autosomal dominant	[22]
CRKL	OTOYSD1R	Definitive	Biomarker	[2]

References

• [1] Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.Development. 1998 Mar;125(5):813-24. doi: 10.1242/dev.125.5.813.
• [2] Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome.Dev Cell. 2006 Jan;10(1):81-92. doi: 10.1016/j.devcel.2005.12.002.
• [3] Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.Am J Hum Genet. 2015 Dec 3;97(6):869-77. doi: 10.1016/j.ajhg.2015.10.013. Epub 2015 Nov 19.
• [4] Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region.Genomics. 1996 Apr 15;33(2):271-6. doi: 10.1006/geno.1996.0191.
• [5] The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14.
• [6] An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.J Med Genet. 2000 Jan;37(1):33-7. doi: 10.1136/jmg.37.1.33.
• [7] Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.Hum Genet. 2005 Jun;117(1):70-80. doi: 10.1007/s00439-005-1267-2. Epub 2005 Apr 9.
• [8] Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.Biochem Biophys Res Commun. 2003 Apr 25;304(1):184-90. doi: 10.1016/s0006-291x(03)00554-0.
• [9] De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature.Exp Ther Med. 2018 Oct;16(4):3589-3595. doi: 10.3892/etm.2018.6609. Epub 2018 Aug 16.
• [10] The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.Development. 2003 Aug;130(15):3567-78. doi: 10.1242/dev.00581.
• [11] Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.Hum Mol Genet. 1996 May;5(5):617-24. doi: 10.1093/hmg/5.5.617.
• [12] 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.Hum Mol Genet. 1998 Sep;7(9):1497-505. doi: 10.1093/hmg/7.9.1497.
• [13] Schizophrenia two-hit hypothesis in velo-cardio facial syndrome.Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):177-82. doi: 10.1002/ajmg.b.32129. Epub 2013 Jan 17.
• [14] An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14.
• [15] Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.Genomics. 1998 Oct 15;53(2):146-54. doi: 10.1006/geno.1998.5488.
• [16] Patients affected by a new variant of endemic pemphigus foliaceus have autoantibodies colocalizing with MYZAP, p0071, desmoplakins 1-2 and ARVCF, causing renal damage.Clin Exp Dermatol. 2018 Aug;43(6):692-702. doi: 10.1111/ced.13566. Epub 2018 May 16.
• [17] Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.Hum Genet. 2012 Sep;131(9):1519-24. doi: 10.1007/s00439-012-1180-4. Epub 2012 May 30.
• [18] RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction.Mech Dev. 2002 Feb;111(1-2):177-80. doi: 10.1016/s0925-4773(01)00616-5.
• [19] Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome.Mech Dev. 2000 Aug;96(1):121-4. doi: 10.1016/s0925-4773(00)00370-1.
• [20] The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.Genomics. 1998 Apr 15;49(2):230-6. doi: 10.1006/geno.1998.5252.
• [21] Polymorphism in SNAP29 gene promoter region associated with schizophrenia.Mol Psychiatry. 2001 Mar;6(2):193-201. doi: 10.1038/sj.mp.4000825.
• [22] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.