Details of Disease

General Information of Disease (ID: DISFUOL2)

• Disease Name: Diabetes mellitus, transient neonatal, 1
• Synonyms: Dmtn; Tndm1; Tndm; diabetes mellitus, transient neonatal, 1; diabetes mellitus, transient neonatal 1; diabetes mellitus, transient neonatal, type 1
• Disease Hierarchy:
  DIST826V: Transient neonatal diabetes mellitus
  DISFUOL2: Diabetes mellitus, transient neonatal, 1
• Disease Identifiers:
  MONDO ID: MONDO_0011073
  MESH ID: C563322
  UMLS CUI: C1832386
  OMIM ID: 601410
  MedGen ID: 371317
  Orphanet ID: 99886
  SNOMED CT ID: 609579009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZFP57	OT5SOYAK	Definitive	Autosomal recessive	[1]
PLAGL1	OTZAO900	Strong	Altered Expression	[4]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	TTP835K	Strong	Genetic Variation	[2]
KCNJ11	TT329V4	Strong	GermlineCausalMutation	[3]

References

• [1] Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11.
• [2] Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9.
• [3] The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):171-87. doi: 10.1016/j.beem.2011.12.001.
• [4] Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1.Mol Cell Biol. 2012 Jul;32(13):2549-60. doi: 10.1128/MCB.06637-11. Epub 2012 Apr 30.