Transient Neonatal Diabetes Mellitus (DMTN)

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Disease Ontology 12 DOID:0060334 KEGG 36 H00513 ICD10 32 P70.2 ICD10 via Orphanet 33 P70.2

UMLS via Orphanet 72 C1832386 Orphanet 58 ORPHA99886 SNOMED-CT via HPO 68 103276001 111246005 13213009 15188001 161832001 192992007 199612005 22033007 224958001 228156007 237598005 237603002 247578003 262285001 267581004 274783007 27868004 28560003 34095006 343087000 36440009 36815008 371632003 37356005 398151007 398152000 432788009 45154002 54200006 66187002 68345001 6950007 77016009 80394007 89362005 91138005 95568003 95828007 more

NIH Rare Diseases : ⁵² Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia , dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB ; most (but not all) of these cases are not inherited . Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes . Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.

MalaCards based summary : Transient Neonatal Diabetes Mellitus, also known as diabetes mellitus, transient neonatal, is related to diabetes mellitus, 6q24-related transient neonatal and diabetes mellitus, transient neonatal, 1. An important gene associated with Transient Neonatal Diabetes Mellitus is HYMAI (Hydatidiform Mole Associated And Imprinted), and among its related pathways/superpathways are Integration of energy metabolism and Type II diabetes mellitus. Affiliated tissues include heart, pancreatic islet and testes, and related phenotypes are failure to thrive and dehydration

Disease Ontology : ¹² A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.

KEGG : ³⁶ 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.

Wikipedia : ⁷⁴ Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes presenting at birth that is... more...

Search Clinical Trials , NIH Clinical Center for Transient Neonatal Diabetes Mellitus

Search GEO for disease gene expression data for Transient Neonatal Diabetes Mellitus.