KEGG   DISEASE: Transient neonatal diabetes mellitus
Entry
H00513                      Disease                                
Name
Transient 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). TNDM is a developmental disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes, PLAGL1 and HYMAI, on chromosome 6q24. Hypomethylation of multiple imprinted loci is associated with mutations in ZFP57. Mutations in ABCC8 and KCNJ11 encoding Kir6.2 and SUR1 are other genetic causes of TNDM.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 19 Certain conditions originating in the perinatal period
  Transitory endocrine or metabolic disorders specific to fetus or newborn
   KB60  Transitory disorders of carbohydrate metabolism specific to fetus or newborn
    H00513  Transient neonatal diabetes mellitus
Pathway
hsa04911  Insulin secretion
Gene
(TNDM1) ZFP57 [HSA:346171] [KO:K09228]
(TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
(TNDM2) ABCC8 [HSA:6833] [KO:K05032]
(TNDM3) KCNJ11 [HSA:3767] [KO:K05004]
Other DBs
ICD-11: KB60.20
MeSH: C563322 C563672 C566432
OMIM: 601410 610374 610582
Reference
PMID:21034612
  Authors
Xu XF, Du LZ
  Title
Epigenetics in neonatal diseases.
  Journal
Chin Med J (Engl) 123:2948-54 (2010)
DOI:10.3760/cma.j.issn.0366-6999.2010.20.036
Reference
PMID:20922569
  Authors
Temple IK, Shield JP
  Title
6q24 transient neonatal diabetes.
  Journal
Rev Endocr Metab Disord 11:199-204 (2010)
DOI:10.1007/s11154-010-9150-4
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
Reference
PMID:18622393 (ZFP57)
  Authors
Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK
  Title
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
  Journal
Nat Genet 40:949-51 (2008)
DOI:10.1038/ng.187
Reference
PMID:11448939 (PLAGL1)
  Authors
Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA
  Title
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
  Journal
Hum Mol Genet 10:1475-83 (2001)
DOI:10.1093/hmg/10.14.1475
Reference
PMID:16885549 (ABCC8)
  Authors
Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P
  Title
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
  Journal
N Engl J Med 355:456-66 (2006)
DOI:10.1056/NEJMoa055068
Reference
PMID:15784703 (KCNJ11)
  Authors
Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T
  Title
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
  Journal
J Clin Endocrinol Metab 90:3174-8 (2005)
DOI:10.1210/jc.2005-0096

» Japanese version

  All links  
Disease (3)   
   OMIM (3)   
All databases (3)   

Download RDF
DBGET integrated database retrieval system