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Maturity-onset diabetes of the young, type 14(MODY14)

MedGen UID:
908119
Concept ID:
C4225299
Disease or Syndrome
Synonyms: MODY 14; MODY14
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): APPL1 (3p14.3)
OMIM®: 616511

Authors:
Rochelle Naylor  |  Amy Knight Johnson  |  Daniela del Gaudio   view full author information

Clinical features

From HPO
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
Maturity onset diabetes mellitus in young
MedGen UID:
87433
Concept ID:
C0342276
Disease or Syndrome
Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7. MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24.2. MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12.1. MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17cen-q21.3. MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q32. MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34. MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32. MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15.5. MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23. MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
Maturity onset diabetes mellitus in young
MedGen UID:
87433
Concept ID:
C0342276
Disease or Syndrome
Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7. MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24.2. MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12.1. MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17cen-q21.3. MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q32. MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34. MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32. MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15.5. MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23. MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.

Recent clinical studies

Etiology

Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL
Diabetes Care 2019 Jan;42(1):69-76. Epub 2018 Dec 6 doi: 10.2337/dc18-0261. PMID: 30523035
Johnson SR, McGown I, Oppermann U, Conwell LS, Harris M, Duncan EL
Pediatr Diabetes 2018 Aug;19(5):905-909. Epub 2018 May 22 doi: 10.1111/pedi.12679. PMID: 29633446
Giuffrida FMA, Moises RS, Weinert LS, Calliari LE, Manna TD, Dotto RP, Franco LF, Caetano LA, Teles MG, Lima RA, Alves C, Dib SA, Silveiro SP, Dias-da-Silva MR, Reis AF; Brazilian Monogenic Diabetes Study Group (BRASMOD).
Diabetes Res Clin Pract 2017 Jan;123:134-142. Epub 2016 Oct 22 doi: 10.1016/j.diabres.2016.10.017. PMID: 28012402
Bacon S, Schmid J, McCarthy A, Edwards J, Fleming A, Kinsley B, Firth R, Byrne B, Gavin C, Byrne MM
Am J Obstet Gynecol 2015 Aug;213(2):236.e1-7. Epub 2015 Apr 30 doi: 10.1016/j.ajog.2015.04.037. PMID: 25935773
Zhang M, Zhou JJ, Cui W, Li Y, Yang P, Chen X, Sheng C, Li H, Qu S
J Diabetes 2015 Nov;7(6):858-63. Epub 2015 Mar 24 doi: 10.1111/1753-0407.12253. PMID: 25588466

Diagnosis

Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL
Diabetes Care 2019 Jan;42(1):69-76. Epub 2018 Dec 6 doi: 10.2337/dc18-0261. PMID: 30523035
Johnson SR, McGown I, Oppermann U, Conwell LS, Harris M, Duncan EL
Pediatr Diabetes 2018 Aug;19(5):905-909. Epub 2018 May 22 doi: 10.1111/pedi.12679. PMID: 29633446
Giuffrida FMA, Moises RS, Weinert LS, Calliari LE, Manna TD, Dotto RP, Franco LF, Caetano LA, Teles MG, Lima RA, Alves C, Dib SA, Silveiro SP, Dias-da-Silva MR, Reis AF; Brazilian Monogenic Diabetes Study Group (BRASMOD).
Diabetes Res Clin Pract 2017 Jan;123:134-142. Epub 2016 Oct 22 doi: 10.1016/j.diabres.2016.10.017. PMID: 28012402
Bacon S, Schmid J, McCarthy A, Edwards J, Fleming A, Kinsley B, Firth R, Byrne B, Gavin C, Byrne MM
Am J Obstet Gynecol 2015 Aug;213(2):236.e1-7. Epub 2015 Apr 30 doi: 10.1016/j.ajog.2015.04.037. PMID: 25935773
Zhang M, Zhou JJ, Cui W, Li Y, Yang P, Chen X, Sheng C, Li H, Qu S
J Diabetes 2015 Nov;7(6):858-63. Epub 2015 Mar 24 doi: 10.1111/1753-0407.12253. PMID: 25588466

Therapy

Hohendorff J, Szopa M, Skupien J, Kapusta M, Zapala B, Platek T, Mrozinska S, Parpan T, Glodzik W, Ludwig-Galezowska A, Kiec-Wilk B, Klupa T, Malecki MT
Endocrine 2017 Aug;57(2):272-279. Epub 2017 Jun 7 doi: 10.1007/s12020-017-1341-2. PMID: 28593615Free PMC Article
Bacon S, Schmid J, McCarthy A, Edwards J, Fleming A, Kinsley B, Firth R, Byrne B, Gavin C, Byrne MM
Am J Obstet Gynecol 2015 Aug;213(2):236.e1-7. Epub 2015 Apr 30 doi: 10.1016/j.ajog.2015.04.037. PMID: 25935773
Kawakita R, Hosokawa Y, Fujimaru R, Tamagawa N, Urakami T, Takasawa K, Moriya K, Mizuno H, Maruo Y, Takuwa M, Nagasaka H, Nishi Y, Yamamoto Y, Aizu K, Yorifuji T
Diabet Med 2014 Nov;31(11):1357-62. Epub 2014 May 24 doi: 10.1111/dme.12487. PMID: 24804978
Demol S, Lebenthal Y, Bar-Meisels M, Phillip M, Gat-Yablonski G, Gozlan Y
Horm Res Paediatr 2014;81(4):280-4. Epub 2014 Mar 12 doi: 10.1159/000356925. PMID: 24642958
Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T
BMC Med Genet 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42. PMID: 20226046Free PMC Article

Prognosis

Kawakita R, Hosokawa Y, Fujimaru R, Tamagawa N, Urakami T, Takasawa K, Moriya K, Mizuno H, Maruo Y, Takuwa M, Nagasaka H, Nishi Y, Yamamoto Y, Aizu K, Yorifuji T
Diabet Med 2014 Nov;31(11):1357-62. Epub 2014 May 24 doi: 10.1111/dme.12487. PMID: 24804978
Urbanová J, Rypáčková B, Kučera P, Anděl M, Heneberg P
Int Arch Allergy Immunol 2013;161(3):279-84. Epub 2013 Mar 15 doi: 10.1159/000346906. PMID: 23548576
Gloyn AL, Faber JH, Malmodin D, Thanabalasingham G, Lam F, Ueland PM, McCarthy MI, Owen KR, Baunsgaard D
PLoS One 2012;7(7):e40962. Epub 2012 Jul 30 doi: 10.1371/journal.pone.0040962. PMID: 22859960Free PMC Article
Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL
PLoS One 2012;7(4):e34541. Epub 2012 Apr 6 doi: 10.1371/journal.pone.0034541. PMID: 22493702Free PMC Article
Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Eriksson KF, Isomaa B, Tuomi T, Nilsson P, Groop L
Diabetes 2008 Jun;57(6):1738-44. Epub 2008 Mar 10 doi: 10.2337/db06-1464. PMID: 18332101

Clinical prediction guides

Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL
Diabetes Care 2019 Jan;42(1):69-76. Epub 2018 Dec 6 doi: 10.2337/dc18-0261. PMID: 30523035
Hohendorff J, Szopa M, Skupien J, Kapusta M, Zapala B, Platek T, Mrozinska S, Parpan T, Glodzik W, Ludwig-Galezowska A, Kiec-Wilk B, Klupa T, Malecki MT
Endocrine 2017 Aug;57(2):272-279. Epub 2017 Jun 7 doi: 10.1007/s12020-017-1341-2. PMID: 28593615Free PMC Article
Giuffrida FMA, Moises RS, Weinert LS, Calliari LE, Manna TD, Dotto RP, Franco LF, Caetano LA, Teles MG, Lima RA, Alves C, Dib SA, Silveiro SP, Dias-da-Silva MR, Reis AF; Brazilian Monogenic Diabetes Study Group (BRASMOD).
Diabetes Res Clin Pract 2017 Jan;123:134-142. Epub 2016 Oct 22 doi: 10.1016/j.diabres.2016.10.017. PMID: 28012402
Haliloglu B, Hysenaj G, Atay Z, Guran T, Abalı S, Turan S, Bereket A, Ellard S
Clin Endocrinol (Oxf) 2016 Sep;85(3):393-9. Epub 2016 Jul 5 doi: 10.1111/cen.13121. PMID: 27256595Free PMC Article
Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Eriksson KF, Isomaa B, Tuomi T, Nilsson P, Groop L
Diabetes 2008 Jun;57(6):1738-44. Epub 2008 Mar 10 doi: 10.2337/db06-1464. PMID: 18332101

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