KEGG   DISEASE: Permanent neonatal diabetes mellitus
H00512                      Disease                                

Permanent neonatal diabetes mellitus
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.
Metabolic disease; Endocrine disease
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
   H00512  Permanent neonatal diabetes mellitus
Human diseases in ICD-11 classification [BR:br08403]
 19 Certain conditions originating in the perinatal period
  Transitory endocrine or metabolic disorders specific to foetus or newborn
   KB60  Transitory disorders of carbohydrate metabolism specific to foetus or newborn
    H00512  Permanent neonatal diabetes mellitus
hsa04910  Insulin signaling pathway
KCNJ11 [HSA:3767] [KO:K05004]
ABCC8 [HSA:6833] [KO:K05032]
GCK [HSA:2645] [KO:K12407]
INS [HSA:3630] [KO:K04526]
IPF1 [HSA:3651] [KO:K07594]
PTF1A [HSA:256297] [KO:K09073]
FOXP3 [HSA:50943] [KO:K10163]
EIF2AK3 [HSA:9451] [KO:K08860]
GLIS3 [HSA:169792] [KO:K09232]
Other DBs
ICD-11: KB60.2Y
ICD-10: P70.2
MeSH: C563424 C563425 C563796
OMIM: 606176 609069 610199
Polak M, Cave H
Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
Orphanet J Rare Dis 2:12 (2007)
Rubio-Cabezas O, Klupa T, Malecki MT
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
Eur J Clin Invest 41:323-33 (2011)

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