Details of Disease

General Information of Disease (ID: DIS5AEXS)

Disease Name Permanent neonatal diabetes mellitus
Synonyms
diabetes mellitus, permanent neonatal; diabetes mellitus, permanent, of infancy; diabetes mellitus, permanent neonatal, with neurologic features; developmental delay, epilepsy, and neonatal diabetes; PDMI; permanent diabetes mellitus of infancy; monogenic diabetes of infancy; PNDM
Definition
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Disease Hierarchy
DISFHF9K: Neonatal diabetes mellitus
DIS30PPZ: Disorder of glycolysis
DIS5AEXS: Permanent neonatal diabetes mellitus
Disease Identifiers
MONDO ID
MONDO_0100164
UMLS CUI
C1833104
MedGen ID
371484
Orphanet ID
99885
SNOMED CT ID
609565001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 10 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GCK TTDLNGZ Supportive Autosomal dominant [1]
STAT3 TTH8FZW Supportive Autosomal dominant [2]
ABCC8 TTP835K Strong Biomarker [3]
EIF2AK3 TT79U1M Strong Biomarker [4]
GATA4 TT1VDN2 Strong Autosomal dominant [5]
GCK TTDLNGZ Strong Genetic Variation [6]
INS TTZOPHG Strong Autosomal dominant [5]
PDX1 TT8SGZK Strong Autosomal recessive [5]
PDX1 TT8SGZK Strong Genetic Variation [7]
SLC19A2 TT2A1DZ Strong Genetic Variation [8]
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⏷ Show the Full List of 10 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNJ11 DTGZICY Supportive Autosomal dominant [1]
ABCC8 DTI58LU Strong Autosomal recessive [5]
SLC2A2 DTUJPOL Strong Autosomal recessive [5]
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This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
INS-IGF2 OTZR74BO Limited CausalMutation [9]
GCK OTR3Q0NN Supportive Autosomal dominant [1]
KCNJ11 OTPUUELV Supportive Autosomal dominant [1]
STAT3 OTAAGKYZ Supportive Autosomal dominant [2]
ABCC8 OTCWQ54I Strong Autosomal recessive [5]
GATA4 OTQHWAZG Strong Autosomal dominant [5]
HNF1B OTSYIC3T Strong Autosomal dominant [5]
IER3IP1 OTCYSU28 Strong Genetic Variation [10]
INS OTZ85PDU Strong Autosomal dominant [5]
MNX1 OTXP9FH1 Strong Autosomal recessive [5]
NEUROG3 OT6DIPWC Strong Autosomal recessive [5]
PDX1 OTX1DKRA Strong Autosomal recessive [5]
PTF1A OT7SWA57 Strong Autosomal recessive [5]
SLC2A2 OTBL2W7R Strong Autosomal recessive [5]
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⏷ Show the Full List of 14 DOT(s)

References

1 Review on monogenic diabetes. Curr Opin Endocrinol Diabetes Obes. 2011 Aug;18(4):252-8. doi: 10.1097/MED.0b013e3283488275.
2 An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. Diabetes. 2017 Apr;66(4):1022-1029. doi: 10.2337/db16-0867. Epub 2017 Jan 10.
3 A novel high-affinity inhibitor against the human ATP-sensitive Kir6.2 channel.J Gen Physiol. 2018 Jul 2;150(7):969-976. doi: 10.1085/jgp.201812017. Epub 2018 May 29.
4 A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.Can J Diabetes. 2018 Jun;42(3):272-275. doi: 10.1016/j.jcjd.2017.06.009. Epub 2017 Aug 23.
5 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.
6 Association of a homozygous GCK missense mutation with mild diabetes.Mol Genet Genomic Med. 2019 Jul;7(7):e00728. doi: 10.1002/mgg3.728. Epub 2019 Jun 14.
7 PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.Indian Pediatr. 2017 Dec 15;54(12):1052-1053. doi: 10.1007/s13312-017-1211-2.
8 Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.J Diabetes. 2018 Jan;10(1):50-58. doi: 10.1111/1753-0407.12556. Epub 2017 May 29.
9 Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.J Biol Chem. 2011 Aug 12;286(32):28414-24. doi: 10.1074/jbc.M110.215822. Epub 2011 May 18.
10 IER3IP1 deficiency leads to increased -cell death and decreased -cell proliferation.Oncotarget. 2017 May 25;8(34):56768-56779. doi: 10.18632/oncotarget.18179. eCollection 2017 Aug 22.