 DiGeorge Syndrome
"DiGeorge Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
| Descriptor ID |
D004062
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| MeSH Number(s) |
C05.660.207.103.500 C14.240.400.021.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.077.019.500 C16.131.240.400.021.500 C16.131.260.019.500 C16.131.482.249.500 C16.131.621.207.103.500 C16.320.180.019.500 C19.642.482.500.500
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| Concept/Terms |
DiGeorge Syndrome- DiGeorge Syndrome
- Syndrome, DiGeorge
- DiGeorge Sequence
- Familial Third and Fourth Pharyngeal Pouch Syndrome
- Autosomal Dominant Opitz G-Bbb Syndrome
- Autosomal Dominant Opitz G Bbb Syndrome
- Pharyngeal Pouch Syndrome
- Third and Fourth Pharyngeal Pouch Syndrome
- Thymic Aplasia Syndrome
- Catch22
- DiGeorge Anomaly
- Hypoplasia of Thymus and Parathyroids
Velocardiofacial Syndrome- Velocardiofacial Syndrome
- Syndrome, Velocardiofacial
- Sedlackova Syndrome
- Syndrome, Sedlackova
- Shprintzen Syndrome
- Syndrome, Shprintzen
- 22q11.2DS
- VCF Syndrome
- Syndrome, VCF
- Velo-Cardio-Facial Syndrome
- Syndrome, Velo-Cardio-Facial
- Velo Cardio Facial Syndrome
- Deletion 22q11.2 Syndrome
- 22q11.2 Deletion Syndrome
- Deletion Syndrome, 22q11.2
- Shprintzen VCF Syndrome
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Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".
Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".
This graph shows the total number of publications written about "DiGeorge Syndrome" by people in this website by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 0 | 1 | | 2004 | 2 | 0 | 2 | | 2007 | 0 | 1 | 1 | | 2008 | 1 | 1 | 2 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 2 | 0 | 2 | | 2019 | 1 | 1 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.
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Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kazmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Ach?n Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. 2024 Mar; 230(3):368.e1-368.e12.
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Tcheandjieu C, Aguirre M, Gustafsson S, Saha P, Potiny P, Haendel M, Ingelsson E, Rivas MA, Priest JR. A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet. 2020 11; 16(11):e1008802.
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McCabe KL, Popa AM, Durdle C, Amato M, Cabaral MH, Cruz J, Wong LM, Harvey D, Tartaglia N, Simon TJ. Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. J Neurodev Disord. 2019 12 20; 11(1):40.
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Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019 08 15; 124(4):618-626.
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Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology. 2018 06 05; 90(23):e2059-e2067.
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Weisman O, Guri Y, Gur RE, McDonald-McGinn DM, Calkins ME, Tang SX, Emanuel B, Zackai EH, Eliez S, Schneider M, Schaer M, Kates WR, Antshel KM, Fremont W, Shashi V, Hooper SR, Armando M, Vicari S, Pontillo M, Kushan L, Jalbrzikowski M, Bearden CE, Cubells JF, Ousley OY, Walker EF, Simon TJ, Stoddard J, Niendam TA, van den Bree MBM, Gothelf D. Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study. Schizophr Bull. 2017 09 01; 43(5):1079-1089.
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Wagner RD, Wolfswinkel EM, Buchanan EP, Khechoyan DY. Surgical Outcomes for Speech Surgery in 22q11.2 Deletion Syndrome: The Dilemma of Persistent Velopharyngeal Insufficiency After Pharyngeal Flap Operation. J Craniofac Surg. 2017 Jul; 28(5):1320-1324.
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Pollard R, Hannan M, Tanabe J, Berman BD. Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome. Parkinsonism Relat Disord. 2016 Apr; 25:110-1.
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Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Su?er D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 07; 96(5):753-64.
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Gothelf D, Law AJ, Frisch A, Chen J, Zarchi O, Michaelovsky E, Ren-Patterson R, Lipska BK, Carmel M, Kolachana B, Weizman A, Weinberger DR. Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Biol Psychiatry. 2014 Mar 01; 75(5):406-13.
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