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TNDM diabetes mellitus, transient neonatal [ Homo sapiens (human) ]

Gene ID: 7952, updated on 25-Jun-2020

Summary

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Gene symbol
TNDM
Gene description
diabetes mellitus, transient neonatal
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMTN; TNDM1
Summary
Transient neonatal diabetes mellitus is associated with overexpression of a region containing the PLAGL1 and HYMAI genes on chromosome 6q24. These genes are normally imprinted and expressed only from the paternal allele. Imprinting is regulated by differential methylation of a CpG island in this region. [provided by RefSeq, May 2015]

Genomic context

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Location:
chromosome: 6

Bibliography

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Related articles in PubMed

  1. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Mackay DJ, et al. Hum Genet, 2006 Sep. PMID 16816970
  2. Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. Kant SG, et al. Hum Genet, 2005 Aug. PMID 15924231
  3. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Mackay DJ, et al. Hum Genet, 2005 Mar. PMID 15635480
  4. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. Das S, et al. Am J Hum Genet, 2000 Dec. PMID 11038325, Free PMC Article
  5. An imprinted locus associated with transient neonatal diabetes mellitus. Gardner RJ, et al. Hum Mol Genet, 2000 Mar 1. PMID 10699182

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TNDM was expressed in transgenic mice with impaired glucose homeostasis.
    Title: Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM.
Submit: New GeneRIF Correction

Phenotypes

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diabetes mellitus, transient neonatal

General gene information

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Property

  • phenotype only

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