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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
External Links
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
6514 SLC2A2 solute carrier family 2 member 2
Displaying all 4 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
103988 Gck glucokinase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24385 Gck glucokinase
24505 Ins1 insulin 1
24506 Ins2 insulin 2
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 4 entries
Gene ID Gene Symbol Description Source
850317 GLK1 glucokinase
850614 HXK1 hexokinase 1
852128 EMI2 putative glucokinase
852639 HXK2 hexokinase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P11168 Solute carrier family 2, facilitated glucose transporter member 2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 38 in total
HPO ID HPO Term
HP:0005487 Prominent metopic ridge
HP:0001488 Bilateral ptosis
HP:0010935 Abnormality of the upper urinary tract
HP:0001824 Weight loss
HP:0001252 Hypotonia
HP:0002919 Ketonuria
HP:0012594 Moderate albuminuria
HP:0002069 Bilateral tonic-clonic seizure
HP:0001263 Global developmental delay
HP:0003076 Glycosuria
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: August 19, 2024