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Neonatal diabetes mellitus(NDM)

MedGen UID:
57645
•Concept ID:
C0158981
•
Disease or Syndrome
Synonym: NDM
SNOMED CT: Neonatal diabetes mellitus (49817004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: 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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: ZFP57, HYMAI, ABCC8, KCNJ11, PDX1, INS, GCK
 
Monarch Initiative: MONDO:0016391
Orphanet: ORPHA224

Definition

Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. [from ORDO]

Professional guidelines

PubMed

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Genetic causes and treatment of neonatal diabetes and early childhood diabetes.
Barbetti F, D'Annunzio G
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):575-591. Epub 2018 Jun 25 doi: 10.1016/j.beem.2018.06.008. PMID: 30086875
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article

Recent clinical studies

Etiology

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED)
J Clin Endocrinol Metab 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. PMID: 38408297Free PMC Article
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S, Sarangi AN, Sahoo SK, Mangla P, Tripathy M, Rao S, Gupta S, Paliwal VK, Sudhanshu S, Ravi C, Joshi K, Bhatia V, Bhatia E
Indian J Pediatr 2021 Aug;88(8):785-792. Epub 2021 Jan 7 doi: 10.1007/s12098-020-03567-7. PMID: 33409956
Monogenic Forms of Diabetes Mellitus.
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
Epigenetics in neonatal diseases.
Xu XF, Du LZ
Chin Med J (Engl) 2010 Oct;123(20):2948-54. PMID: 21034612
Update in neonatal diabetes.
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

Diagnosis

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED)
J Clin Endocrinol Metab 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. PMID: 38408297Free PMC Article
Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.
Sousa M, Bruges-Armas J
Curr Diabetes Rev 2020;16(8):807-819. doi: 10.2174/1573399816666191230114352. PMID: 31886753
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Genetic Factors of Diabetes.
Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) 2016 Dec;64(Suppl 1):157-160. Epub 2017 Jan 12 doi: 10.1007/s00005-016-0432-8. PMID: 28083605
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256

Therapy

New insights into K(ATP) channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T, Usher S, Stansfeld PJ, Ashcroft FM
Nat Rev Endocrinol 2020 Jul;16(7):378-393. Epub 2020 May 6 doi: 10.1038/s41574-020-0351-y. PMID: 32376986
Precision Diabetes Is Slowly Becoming a Reality.
Mohan V, Radha V
Med Princ Pract 2019;28(1):1-9. Epub 2019 Jan 27 doi: 10.1159/000497241. PMID: 30685765Free PMC Article
Genetic causes and treatment of neonatal diabetes and early childhood diabetes.
Barbetti F, D'Annunzio G
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):575-591. Epub 2018 Jun 25 doi: 10.1016/j.beem.2018.06.008. PMID: 30086875
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Insulin therapy in neonatal diabetes mellitus: a review of the literature.
Rabbone I, Barbetti F, Gentilella R, Mossetto G, Bonfanti R, Maffeis C, Iafusco D, Piccinno E
Diabetes Res Clin Pract 2017 Jul;129:126-135. Epub 2017 Apr 13 doi: 10.1016/j.diabres.2017.04.007. PMID: 28527303

Prognosis

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED)
J Clin Endocrinol Metab 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. PMID: 38408297Free PMC Article
Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.
Sousa M, Bruges-Armas J
Curr Diabetes Rev 2020;16(8):807-819. doi: 10.2174/1573399816666191230114352. PMID: 31886753
Monogenic Forms of Diabetes Mellitus.
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256

Clinical prediction guides

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Genetic Defects of the β-Cell That Cause Diabetes.
Stekelenburg CM, Schwitzgebel VM
Endocr Dev 2016;31:179-202. Epub 2016 Jan 19 doi: 10.1159/000439417. PMID: 26824366
Transient neonatal diabetes mellitus type 1.
Mackay DJ, Temple IK
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. PMID: 20803656

Recent systematic reviews

Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.
Chen Y, Hu X, Zhao M
J Diabetes 2024 Mar;16(3):e13520. Epub 2023 Dec 14 doi: 10.1111/1753-0407.13520. PMID: 38095268Free PMC Article
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M, Han X, Ji L
J Diabetes Res 2021;2021:9479268. Epub 2021 Sep 30 doi: 10.1155/2021/9479268. PMID: 34631896Free PMC Article
Insulin gene mutations and posttranslational and translocation defects: associations with diabetes.
Arneth B
Endocrine 2020 Dec;70(3):488-497. Epub 2020 Jul 12 doi: 10.1007/s12020-020-02413-2. PMID: 32656694
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.
Cortessis VK, Azadian M, Buxbaum J, Sanogo F, Song AY, Sriprasert I, Wei PC, Yu J, Chung K, Siegmund KD
J Assist Reprod Genet 2018 Jun;35(6):943-952. Epub 2018 Apr 25 doi: 10.1007/s10815-018-1173-x. PMID: 29696471Free PMC Article

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