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Pancreatic beta cell agenesis with neonatal diabetes mellitus

MedGen UID:
325072
Concept ID:
C1838655
Disease or Syndrome
Synonym: Congenital absence of insulin-producing beta cells with diabetes mellitus
 
Monarch Initiative: MONDO:0010813
OMIM®: 600089

Clinical features

From HPO
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Neonatal insulin-dependent diabetes mellitus
MedGen UID:
480266
Concept ID:
C3278636
Finding

Term Hierarchy

Follow this link to review classifications for Pancreatic beta cell agenesis with neonatal diabetes mellitus in Orphanet.

Recent clinical studies

Etiology

Kapur A, McIntyre HD, Hod M
Endocrinol Metab Clin North Am 2019 Sep;48(3):511-531. Epub 2019 Jun 26 doi: 10.1016/j.ecl.2019.05.009. PMID: 31345520
Sauder KA, Hockett CW, Ringham BM, Glueck DH, Dabelea D
Diabet Med 2017 Oct;34(10):1392-1399. Epub 2017 Jul 21 doi: 10.1111/dme.13417. PMID: 28636758Free PMC Article
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group
Lancet Diabetes Endocrinol 2013 Nov;1(3):199-207. Epub 2013 Sep 6 doi: 10.1016/S2213-8587(13)70059-7. PMID: 24622368
Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH
Curr Opin Endocrinol Diabetes Obes 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. PMID: 19952737
Hill DJ, Duvillié B
Pediatr Res 2000 Sep;48(3):269-74. doi: 10.1203/00006450-200009000-00002. PMID: 10960489

Diagnosis

Kapur A, McIntyre HD, Hod M
Endocrinol Metab Clin North Am 2019 Sep;48(3):511-531. Epub 2019 Jun 26 doi: 10.1016/j.ecl.2019.05.009. PMID: 31345520
Stekelenburg CM, Schwitzgebel VM
Endocr Dev 2016;31:179-202. Epub 2016 Jan 19 doi: 10.1159/000439417. PMID: 26824366
Haldorsen IS, Ræder H, Vesterhus M, Molven A, Njølstad PR
Nat Rev Endocrinol 2011 Nov 29;8(3):148-59. doi: 10.1038/nrendo.2011.197. PMID: 22124438
Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH
Curr Opin Endocrinol Diabetes Obes 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. PMID: 19952737
Kalkhoff RK
Diabetes 1991 Dec;40 Suppl 2:61-5. doi: 10.2337/diab.40.2.s61. PMID: 1748267

Therapy

Mancioppi V, Pozzi E, Zanetta S, Missineo A, Savastio S, Barbetti F, Mellone S, Giordano M, Rabbone I
Front Endocrinol (Lausanne) 2023;14:1143736. Epub 2023 May 11 doi: 10.3389/fendo.2023.1143736. PMID: 37251668Free PMC Article
Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH
Curr Opin Endocrinol Diabetes Obes 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. PMID: 19952737

Prognosis

Passone CGB, Vermillac G, Staels W, Besancon A, Kariyawasam D, Godot C, Lambe C, Talbotec C, Girard M, Chardot C, Berteloot L, Hachem T, Lapillonne A, Poidvin A, Storey C, Neve M, Stan C, Dugelay E, Fauret-Amsellem AL, Capri Y, Cavé H, Ybarra M, Chandra V, Scharfmann R, Bismuth E, Polak M, Carel JC, Pigneur B, Beltrand J
Front Endocrinol (Lausanne) 2022;13:802351. Epub 2022 Jun 22 doi: 10.3389/fendo.2022.802351. PMID: 35813646Free PMC Article
Al-Khawaga S, Mohammed I, Saraswathi S, Haris B, Hasnah R, Saeed A, Almabrazi H, Syed N, Jithesh P, El Awwa A, Khalifa A, AlKhalaf F, Petrovski G, Abdelalim EM, Hussain K
Mol Genet Genomic Med 2019 Oct;7(10):e00753. Epub 2019 Aug 23 doi: 10.1002/mgg3.753. PMID: 31441606Free PMC Article
Sauder KA, Hockett CW, Ringham BM, Glueck DH, Dabelea D
Diabet Med 2017 Oct;34(10):1392-1399. Epub 2017 Jul 21 doi: 10.1111/dme.13417. PMID: 28636758Free PMC Article
Stekelenburg CM, Schwitzgebel VM
Endocr Dev 2016;31:179-202. Epub 2016 Jan 19 doi: 10.1159/000439417. PMID: 26824366
Shield JP
Horm Res 2000;53 Suppl 1:7-11. doi: 10.1159/000053198. PMID: 10895036

Clinical prediction guides

Passone CGB, Vermillac G, Staels W, Besancon A, Kariyawasam D, Godot C, Lambe C, Talbotec C, Girard M, Chardot C, Berteloot L, Hachem T, Lapillonne A, Poidvin A, Storey C, Neve M, Stan C, Dugelay E, Fauret-Amsellem AL, Capri Y, Cavé H, Ybarra M, Chandra V, Scharfmann R, Bismuth E, Polak M, Carel JC, Pigneur B, Beltrand J
Front Endocrinol (Lausanne) 2022;13:802351. Epub 2022 Jun 22 doi: 10.3389/fendo.2022.802351. PMID: 35813646Free PMC Article
Sauder KA, Hockett CW, Ringham BM, Glueck DH, Dabelea D
Diabet Med 2017 Oct;34(10):1392-1399. Epub 2017 Jul 21 doi: 10.1111/dme.13417. PMID: 28636758Free PMC Article
Stekelenburg CM, Schwitzgebel VM
Endocr Dev 2016;31:179-202. Epub 2016 Jan 19 doi: 10.1159/000439417. PMID: 26824366
Fajans SS, Bell GI, Paz VP, Below JE, Cox NJ, Martin C, Thomas IH, Chen M
Transl Res 2010 Jul;156(1):7-14. Epub 2010 Apr 23 doi: 10.1016/j.trsl.2010.03.003. PMID: 20621032Free PMC Article
Hill DJ, Duvillié B
Pediatr Res 2000 Sep;48(3):269-74. doi: 10.1203/00006450-200009000-00002. PMID: 10960489

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