H00512 | |
H number | H00512 |
Name | Permanent neonatal diabetes mellitus |
Description | Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients. |
Category | Endocrine and metabolic disease |
Network | - |
Gene | (PNDM1) GCK [HSA:2645] [KO:K12407] (PNDM2) KCNJ11 [HSA:3767] [KO:K05004] (PNDM3) ABCC8 [HSA:6833] [KO:K05032] (PNDM4) INS [HSA:3630] [KO:K04526] (PAGEN1) PDX1 [HSA:3651] [KO:K07594] (PACA) PTF1A [HSA:256297] [KO:K09073] (IPEX) FOXP3 [HSA:50943] [KO:K10163] (NDH) GLIS3 [HSA:169792] [KO:K09232] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: KB60.2Y ICD-10: P70.2 MeSH: C563424 C563425 C563796 OMIM: 606176 618856 618857 618858 260370 609069 304790 610199 |
Reference | PMID:17349054 AUTHORS Polak M, Cave H TITLE Neonatal diabetes mellitus: a disease linked to multiple mechanisms. JOURNAL Orphanet J Rare Dis 2:12 (2007) DOI:10.1186/1750-1172-2-12 PMID:21054355 AUTHORS Rubio-Cabezas O, Klupa T, Malecki MT TITLE Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. JOURNAL Eur J Clin Invest 41:323-33 (2011) DOI:10.1111/j.1365-2362.2010.02409.x PMID:11372010 (GCK) AUTHORS Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI TITLE Neonatal diabetes mellitus due to complete glucokinase deficiency. JOURNAL N Engl J Med 344:1588-92 (2001) DOI:10.1056/NEJM200105243442104 PMID:15115830 (KCNJ11) AUTHORS Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT TITLE Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. JOURNAL N Engl J Med 350:1838-49 (2004) DOI:10.1056/NEJMoa032922 PMID:16613899 (ABCC8) AUTHORS Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S TITLE A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. JOURNAL Hum Mol Genet 15:1793-800 (2006) DOI:10.1093/hmg/ddl101 PMID:17855560 (INS) AUTHORS Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI TITLE Insulin gene mutations as a cause of permanent neonatal diabetes. JOURNAL Proc Natl Acad Sci U S A 104:15040-4 (2007) DOI:10.1073/pnas.0707291104 PMID:20009086 (PDX1) AUTHORS Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C TITLE A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. JOURNAL Diabetes 59:733-40 (2010) DOI:10.2337/db09-1284 PMID:15543146 (PTF1A) AUTHORS Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS TITLE Mutations in PTF1A cause pancreatic and cerebellar agenesis. JOURNAL Nat Genet 36:1301-5 (2004) DOI:10.1038/ng1475 PMID:16741580 (FOXP3) AUTHORS Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG TITLE Defective regulatory and effector T cell functions in patients with FOXP3 mutations. JOURNAL J Clin Invest 116:1713-22 (2006) DOI:10.1172/JCI25112 PMID:16715098 (GLIS3) AUTHORS Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C TITLE Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. JOURNAL Nat Genet 38:682-7 (2006) DOI:10.1038/ng1802 |