Format

Send to:

Choose Destination

Links from ClinVar

Celiac disease 3(CELIAC3)

MedGen UID:
347563
Concept ID:
C1857845
Finding
Synonyms: CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3
 
Gene (location): CTLA4 (2q33.2)
OMIM®: 609755

Definition

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750. [from OMIM]

Recent clinical studies

Etiology

Emilsson L, Wijmenga C, Murray JA, Ludvigsson JF
Clin Gastroenterol Hepatol 2015 Jul;13(7):1271-1277.e2. Epub 2015 Jan 31 doi: 10.1016/j.cgh.2015.01.026. [Epub ahead of print] PMID: 25645875
Vriezinga SL, Auricchio R, Bravi E, Castillejo G, Chmielewska A, Crespo Escobar P, Kolaček S, Koletzko S, Korponay-Szabo IR, Mummert E, Polanco I, Putter H, Ribes-Koninckx C, Shamir R, Szajewska H, Werkstetter K, Greco L, Gyimesi J, Hartman C, Hogen Esch C, Hopman E, Ivarsson A, Koltai T, Koning F, Martinez-Ojinaga E, te Marvelde C, Pavic A, Romanos J, Stoopman E, Villanacci V, Wijmenga C, Troncone R, Mearin ML
N Engl J Med 2014 Oct 2;371(14):1304-15. doi: 10.1056/NEJMoa1404172. PMID: 25271603
Kabbani TA, Kelly CP, Betensky RA, Hansen J, Pallav K, Villafuerte-Gálvez JA, Vanga R, Mukherjee R, Novero A, Dennis M, Leffler DA
Gastroenterology 2013 May;144(5):912-917.e1. Epub 2013 Jan 24 doi: 10.1053/j.gastro.2013.01.033. [Epub ahead of print] PMID: 23354016Free PMC Article
John ML, Scharrer I
Hamostaseologie 2012;32 Suppl 1:S86-9. PMID: 22960981
Kaila B, Orr K, Bernstein CN
Can J Gastroenterol 2005 Dec;19(12):717-21. PMID: 16341311

Diagnosis

Ediger TR, Hill ID
Pediatr Rev 2014 Oct;35(10):409-15; quiz 416. doi: 10.1542/pir.35-10-409. PMID: 25274968
Vriezinga SL, Auricchio R, Bravi E, Castillejo G, Chmielewska A, Crespo Escobar P, Kolaček S, Koletzko S, Korponay-Szabo IR, Mummert E, Polanco I, Putter H, Ribes-Koninckx C, Shamir R, Szajewska H, Werkstetter K, Greco L, Gyimesi J, Hartman C, Hogen Esch C, Hopman E, Ivarsson A, Koltai T, Koning F, Martinez-Ojinaga E, te Marvelde C, Pavic A, Romanos J, Stoopman E, Villanacci V, Wijmenga C, Troncone R, Mearin ML
N Engl J Med 2014 Oct 2;371(14):1304-15. doi: 10.1056/NEJMoa1404172. PMID: 25271603
Kabbani TA, Kelly CP, Betensky RA, Hansen J, Pallav K, Villafuerte-Gálvez JA, Vanga R, Mukherjee R, Novero A, Dennis M, Leffler DA
Gastroenterology 2013 May;144(5):912-917.e1. Epub 2013 Jan 24 doi: 10.1053/j.gastro.2013.01.033. [Epub ahead of print] PMID: 23354016Free PMC Article
John ML, Scharrer I
Hamostaseologie 2012;32 Suppl 1:S86-9. PMID: 22960981
Fichna M, Fichna P, Gryczyńska M, Walkowiak J, Zurawek M, Sowiński J
Endocrine 2010 Apr;37(2):349-60. Epub 2010 Mar 16 doi: 10.1007/s12020-010-9312-x. [Epub ahead of print] PMID: 20960274

Therapy

Vriezinga SL, Auricchio R, Bravi E, Castillejo G, Chmielewska A, Crespo Escobar P, Kolaček S, Koletzko S, Korponay-Szabo IR, Mummert E, Polanco I, Putter H, Ribes-Koninckx C, Shamir R, Szajewska H, Werkstetter K, Greco L, Gyimesi J, Hartman C, Hogen Esch C, Hopman E, Ivarsson A, Koltai T, Koning F, Martinez-Ojinaga E, te Marvelde C, Pavic A, Romanos J, Stoopman E, Villanacci V, Wijmenga C, Troncone R, Mearin ML
N Engl J Med 2014 Oct 2;371(14):1304-15. doi: 10.1056/NEJMoa1404172. PMID: 25271603
NIH Consens State Sci Statements 2004 Jun 28-30;21(1):1-23. PMID: 17308551
Ciacci C, Cavallaro R, Iovino P, Sabbatini F, Palumbo A, Amoruso D, Tortora R, Mazzacca G
J Allergy Clin Immunol 2004 Jun;113(6):1199-203. doi: 10.1016/j.jaci.2004.03.012. PMID: 15208605
Carbonnel F, Grollet-Bioul L, Brouet JC, Teilhac MF, Cosnes J, Angonin R, Deschaseaux M, Châtelet FP, Gendre JP, Sigaux F
Blood 1998 Nov 15;92(10):3879-86. PMID: 9808581
Thomas DW, Sinatra FR, Merritt RJ
Gastroenterology 1981 Apr;80(4):776-82. PMID: 6970702

Prognosis

Teufel A, Weinmann A, Kahaly GJ, Centner C, Piendl A, Wörns M, Lohse AW, Galle PR, Kanzler S
J Clin Gastroenterol 2010 Mar;44(3):208-13. doi: 10.1097/MCG.0b013e3181c74e0d. PMID: 20087196
Kaila B, Orr K, Bernstein CN
Can J Gastroenterol 2005 Dec;19(12):717-21. PMID: 16341311
Ciacci C, Cavallaro R, Iovino P, Sabbatini F, Palumbo A, Amoruso D, Tortora R, Mazzacca G
J Allergy Clin Immunol 2004 Jun;113(6):1199-203. doi: 10.1016/j.jaci.2004.03.012. PMID: 15208605
Carbonnel F, Grollet-Bioul L, Brouet JC, Teilhac MF, Cosnes J, Angonin R, Deschaseaux M, Châtelet FP, Gendre JP, Sigaux F
Blood 1998 Nov 15;92(10):3879-86. PMID: 9808581

Clinical prediction guides

Fichna M, Fichna P, Gryczyńska M, Walkowiak J, Zurawek M, Sowiński J
Endocrine 2010 Apr;37(2):349-60. Epub 2010 Mar 16 doi: 10.1007/s12020-010-9312-x. [Epub ahead of print] PMID: 20960274
Teufel A, Weinmann A, Kahaly GJ, Centner C, Piendl A, Wörns M, Lohse AW, Galle PR, Kanzler S
J Clin Gastroenterol 2010 Mar;44(3):208-13. doi: 10.1097/MCG.0b013e3181c74e0d. PMID: 20087196
Kaila B, Orr K, Bernstein CN
Can J Gastroenterol 2005 Dec;19(12):717-21. PMID: 16341311
Carbonnel F, Grollet-Bioul L, Brouet JC, Teilhac MF, Cosnes J, Angonin R, Deschaseaux M, Châtelet FP, Gendre JP, Sigaux F
Blood 1998 Nov 15;92(10):3879-86. PMID: 9808581

Recent systematic reviews

NIH Consens State Sci Statements 2004 Jun 28-30;21(1):1-23. PMID: 17308551

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...