Details of Disease | DrugMAP

General Information of Disease (ID: DISL61PN)

Disease Name	Permanent neonatal diabetes mellitus 1
Synonyms	diabetes mellitus, permanent, of infancy; PDMI; PNDM1; diabetes mellitus, permanent neonatal 1
Definition	A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS5AEXS: Permanent neonatal diabetes mellitus DISL61PN: Permanent neonatal diabetes mellitus 1
Disease Identifiers	MONDO ID MONDO_0100165 UMLS CUI C5393570 OMIM ID 606176 MedGen ID 1717586

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCK	TTDLNGZ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GCK	OTR3Q0NN	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.