 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 |
|---|
| 2008 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2022 | 4 | 0 | 4 | | 2023 | 1 | 0 | 1 | | 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.
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Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Ara?jo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590.
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Ingram DG, Tracy M, Noel-MacDonnell J, Ghulmiyyah JM, Arganbright JM. Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels. Sleep Breath. 2024 Mar; 28(1):489-494.
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Arganbright JM, Hankey PB, Tracy M, Narayanan S, Noel-MacDonnell J, Ingram D. Tonsillectomy in Children with 22q11.2 Deletion Syndrome. Genes (Basel). 2022 11 23; 13(12).
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Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J. Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review. Int J Pediatr Otorhinolaryngol. 2022 Dec; 163:111373.
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Arganbright JM, Tracy M, Feldt M, Narayanan S, Mahadev A, Noel-MacDonnell J. Postoperative Hypocalcemia following Non-Cardiac Surgical Procedures in Children with 22q11.2 Deletion Syndrome. Genes (Basel). 2022 10 20; 13(10).
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Raje NR, Noel-MacDonnell JR, Shortt KA, Gigliotti NM, Chan MA, Heruth DP. T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome. J Immunol. 2022 09 01; 209(5):874-885.
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Lin I, Afshar Y, Goldstein J, Grossman J, Grody WW, Quintero-Rivera F. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome. Am J Med Genet A. 2021 10; 185(10):3042-3047.
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Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754.
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Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A, Butler MG, Cooley LD. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009; 124(2):113-20.
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Davis CM, Kancherla VS, Reddy A, Chan W, Yeh HW, Noroski LM, Rosenblatt H, Shearer WT, Chinen J. Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome. J Allergy Clin Immunol. 2008 Dec; 122(6):1194-9.
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