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Standards Ontologies Notations
permanent neonatal diabetes mellitus

Summary
Synonym
  • PDMI
  • PNDM
  • permanent diabetes mellitus of infancy
Definition
A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
Super Class
autosomal dominant disease autosomal recessive disease neonatal diabetes
Disease Ontology
DOID:0060639
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2645 GCK glucokinase
3630 INS insulin
3767 KCNJ11 potassium inwardly rectifying channel subfamily J member 11
6833 ABCC8 ATP binding cassette subfamily C member 8
Displaying all 5 entries
Gene ID Gene Symbol Description Source
16333 Ins1 insulin I
16334 Ins2 insulin II
16514 Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11
20927 Abcc8 ATP-binding cassette, sub-family C member 8
103988 Gck glucokinase
Displaying all 5 entries
Gene ID Gene Symbol Description Source
24385 Gck glucokinase
24505 Ins1 insulin 1
24506 Ins2 insulin 2
25559 Abcc8 ATP binding cassette subfamily C member 8
83535 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11
Displaying all 2 entries
Gene ID Gene Symbol Description Source
43191 Hex-t2 Hexokinase testis 2
117364 Hex-t1 Hexokinase testis 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
30262 ins preproinsulin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
378695 ins.L insulin L homeolog Xenopus laevis (African clawed frog)
378696 ins.S insulin S homeolog Xenopus laevis (African clawed frog)
Displaying all 5 entries
Gene ID Gene Symbol Description Source
850317 GLK1 glucokinase
850614 HXK1 hexokinase 1
850678 YBT1 bile acid-transporting ATPase YBT1
852128 EMI2 putative glucokinase
852639 HXK2 hexokinase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 38 in total
HPO ID HPO Term
HP:0001944 Dehydration
HP:0011106 Hypovolemia
HP:0001259 Coma
HP:0003074 Hyperglycemia
HP:0000857 Neonatal insulin-dependent diabetes mellitus
HP:0002594 Pancreatic hypoplasia
HP:0005750 Lower-limb joint contracture
HP:0001508 Failure to thrive
HP:0000365 Hearing impairment
HP:0002804 Arthrogryposis multiplex congenita
Displaying 1 entry
Gene ID Gene Symbol Description
2645 GCK glucokinase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024