MCID: NNT009
MIFTS: 47

Neonatal Diabetes Mellitus

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Neonatal Diabetes Mellitus

MalaCards integrated aliases for Neonatal Diabetes Mellitus:

Name: Neonatal Diabetes Mellitus 12 76 29 55 6 15 73
Diabetes Mellitus Syndrome in Newborn Infant 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11717
ICD10 33 P70.2
ICD9CM 35 775.1
NCIt 50 C99248
SNOMED-CT 68 49817004
UMLS 73 C0158981

Summaries for Neonatal Diabetes Mellitus

MalaCards based summary : Neonatal Diabetes Mellitus, also known as diabetes mellitus syndrome in newborn infant, is related to diabetes mellitus, transient neonatal, 1 and diabetes mellitus, 6q24-related transient neonatal. An important gene associated with Neonatal Diabetes Mellitus is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Glyburide and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and kidney, and related phenotypes are shRNA abundance <= 50% and endocrine/exocrine gland

Wikipedia : 76 Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body''s ability to... more...

Related Diseases for Neonatal Diabetes Mellitus

Diseases in the Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal, 2
Diabetes Mellitus, Transient Neonatal, 3 Diabetes Mellitus, 6q24-Related Transient Neonatal

Diseases related to Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, transient neonatal, 1 33.8 ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
2 diabetes mellitus, 6q24-related transient neonatal 33.6 HYMAI PLAGL1 ZFP57
3 diabetes mellitus, permanent neonatal 33.0 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
4 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.6 ABCC8 EIF2AK3 KCNJ11
5 paternal uniparental disomy of chromosome 6 30.4 HYMAI PLAGL1 TNDM
6 pancreatic agenesis 30.2 ABCC8 GCK INS KCNJ11 PDX1 PTF1A
7 fanconi-bickel syndrome 29.8 ABCC8 INS SLC2A2
8 beckwith-wiedemann syndrome 29.7 ABCC8 INS PLAGL1 ZFP57
9 hyperinsulinism 29.6 ABCC8 GCK INS KCNJ11 KCNJ5
10 hyperglycemia 29.5 ABCC8 GCK INS KCNJ11 PDX1 SLC2A2
11 diabetes mellitus 28.8 ABCC8 GCK GLIS3 HNF1B HYMAI INS
12 maturity-onset diabetes of the young 28.7 ABCC8 GCK HNF1B INS KCNJ11 KLF11
13 pancreatic beta cell agenesis with neonatal diabetes mellitus 12.3
14 diabetes mellitus, transient neonatal, 3 12.1
15 diabetes mellitus, transient neonatal, 2 12.0
16 pancreatic and cerebellar agenesis 11.9
17 diabetes mellitus, neonatal, with congenital hypothyroidism 11.9
18 munchausen by proxy 10.2 ABCC8 GCK KCNJ11
19 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
20 maturity-onset diabetes of the young, type 14 10.2 ABCC8 GCK
21 hirata disease 10.1 ABCC8 INS
22 endocrine pancreas disease 10.1 ABCC8 GCK INS KCNJ11
23 hyperinsulinemic hypoglycemia 10.1 ABCC8 GCK INS KCNJ11
24 macroglossia 10.1
25 intestinal atresia 10.1 GCK PDX1 PLAGL1
26 hypoglycemia 10.1 ABCC8 GCK INS KCNJ11
27 pancreas disease 10.1 ABCC8 INS KCNJ11 PTF1A
28 maturity-onset diabetes of the young, type 4 10.1 GCK HNF1B PDX1
29 pancreatic cystadenoma 10.0 INS PDX1 SLC2A2
30 maturity-onset diabetes of the young, type 2 10.0 GCK HNF1B INS PDX1
31 diabetes mellitus, ketosis-prone 10.0
32 insulinomatosis and diabetes mellitus 10.0 ABCC8 INS
33 type 1 diabetes mellitus 7 10.0 INS NEUROD1
34 thiamine-responsive megaloblastic anemia syndrome 10.0 ABCC8 INS KCNJ11 SLC19A2
35 maturity-onset diabetes of the young, type 10 10.0 GLIS3 INS KCNJ11
36 gestational diabetes 10.0 GCK INS KCNJ11 TCF7L2
37 renal cysts and diabetes syndrome 10.0 GCK HNF1B NEUROD1 PDX1
38 insulinoma 9.9 ABCC8 GCK INS PDX1 SLC2A2
39 congenital hypothyroidism 9.9
40 hypothyroidism 9.9
41 neonatal hypothyroidism 9.9
42 diabetes mellitus, insulin-dependent 9.9 GCK INS NEUROD1 PDX1
43 maturity-onset diabetes of the young, type 3 9.9 GCK HNF1B INS NEUROD1 PDX1
44 maturity-onset diabetes of the young, type 6 9.9 GCK HNF1B INS NEUROD1 PDX1
45 monogenic diabetes 9.9 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
46 acute insulin response 9.8 ABCC8 INS KCNJ11 KCNJ5 TCF7L2
47 glucose metabolism disease 9.8 ABCC8 GCK INS KCNJ11 SLC2A2 TCF7L2
48 acquired metabolic disease 9.8 ABCC8 GCK INS KCNJ11 SLC2A2 TCF7L2
49 diaphragmatic hernia, congenital 9.8
50 nondisjunction 9.8

Graphical network of the top 20 diseases related to Neonatal Diabetes Mellitus:



Diseases related to Neonatal Diabetes Mellitus

Symptoms & Phenotypes for Neonatal Diabetes Mellitus

GenomeRNAi Phenotypes related to Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 EIF2AK3 GCK KCNJ11 KCNJ5 NEUROD1 PDX1

MGI Mouse Phenotypes related to Neonatal Diabetes Mellitus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.22 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
2 cellular MP:0005384 10.2 EIF2AK3 GLIS3 INS NEUROD1 PDX1 PLAGL1
3 growth/size/body region MP:0005378 10.15 EIF2AK3 GCK GLIS3 HNF1B INS KCNJ11
4 homeostasis/metabolism MP:0005376 10.13 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
5 mortality/aging MP:0010768 10 EIF2AK3 GCK GLIS3 HNF1B INS KCNJ11
6 digestive/alimentary MP:0005381 9.98 EIF2AK3 INS NEUROD1 PDX1 PTF1A SLC19A2
7 liver/biliary system MP:0005370 9.86 EIF2AK3 GCK HNF1B INS PDX1 PTF1A
8 no phenotypic analysis MP:0003012 9.56 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 PDX1
9 renal/urinary system MP:0005367 9.17 GCK GLIS3 HNF1B INS NEUROD1 PDX1

Drugs & Therapeutics for Neonatal Diabetes Mellitus

Drugs for Neonatal Diabetes Mellitus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4,Phase 3,Phase 2 10238-21-8 3488
2 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 glucagon Phase 4
4 Insulin, Globin Zinc Phase 4,Phase 2,Not Applicable
5 insulin Phase 4,Phase 2,Not Applicable
6 Glucagon-Like Peptide 1 Phase 4,Not Applicable
7 Pharmaceutical Solutions Phase 3
8
Zinc Approved, Investigational Not Applicable 7440-66-6
9
Acetaminophen Approved Not Applicable 103-90-2 1983
10
Adenosine Approved, Investigational 58-61-7 60961
11 Neuroserpin
12 Astragalus
13 Antibodies
14 Immunoglobulins
15 Incretins Not Applicable
16 Analgesics Not Applicable
17 Analgesics, Non-Narcotic Not Applicable
18 Antipyretics Not Applicable
19 Peripheral Nervous System Agents Not Applicable
20 Autoantibodies
21 Vasodilator Agents
22 Anti-Arrhythmia Agents
23 Neurotransmitter Agents

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR) Unknown status NCT02624830 Phase 4 Sulfonylurea
2 Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes Completed NCT02624817 Phase 4 Sulfonylurea
3 Glibentek in Patients With Neonatal Diabetes Secondary to Mutations in K+-ATP Channels Completed NCT02375828 Phase 3 Glibenclamide
4 Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes Mellitus Completed NCT00610038 Phase 2 glibenclamide
5 Future of Beta Cells in Adults With Genetic Abnormality Behind Neonatal Diabetes Unknown status NCT02072551
6 Genetic Disease Gene Identification Unknown status NCT00916903
7 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
8 Sulfonylurea Response in Patients With Diabetes Due to Kir6.2 Mutations Completed NCT00334711 Not Applicable Sulfonylurea
9 Effect of Food Composition on Postprandial Insulin Secretion in Neonatal Diabetes Recruiting NCT02921906 Not Applicable Paracetamol
10 EXtremely Early-onset Type 1 Diabetes EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
11 Gene Study for Infantile Onset Diabetes Not yet recruiting NCT03169413

Search NIH Clinical Center for Neonatal Diabetes Mellitus

Genetic Tests for Neonatal Diabetes Mellitus

Genetic tests related to Neonatal Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Neonatal Diabetes Mellitus 29

Anatomical Context for Neonatal Diabetes Mellitus

MalaCards organs/tissues related to Neonatal Diabetes Mellitus:

41
Testes, Pancreas, Kidney, Brain, Heart

Publications for Neonatal Diabetes Mellitus

Articles related to Neonatal Diabetes Mellitus:

(show top 50) (show all 241)
# Title Authors Year
1
Genetic mutations associated with neonatal diabetes mellitus in Omani patients. ( 29329106 )
2018
2
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management. ( 29406006 )
2018
3
Neonatal diabetes mellitus: improved screening and early management of an underestimated disease. ( 29375830 )
2018
4
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ( 29675256 )
2018
5
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. ( 29504184 )
2018
6
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ( 29527407 )
2018
7
Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control. ( 29278452 )
2018
8
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. ( 29521454 )
2018
9
A Novel c.125a88T&amp;gt;G (p.Val42Gly) Mutation in The Human INS Gene Leads to Neonatal Diabetes Mellitus via a Decrease in Insulin Synthesis. ( 29890547 )
2018
10
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. ( 30315371 )
2018
11
Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy. ( 30094785 )
2018
12
Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )
2017
13
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
14
Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )
2017
15
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )
2017
16
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome. ( 28652565 )
2017
17
[ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus]. ( 28777862 )
2017
18
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. ( 28371426 )
2017
19
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )
2017
20
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. ( 28804207 )
2017
21
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
22
Insulin therapy in neonatal diabetes mellitus: a review of the literature. ( 28527303 )
2017
23
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. ( 28667717 )
2017
24
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan. ( 27681997 )
2016
25
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China. ( 26839896 )
2016
26
Glycemic control indicator levels at diagnosis of neonatal diabetes mellitus: Comparison with other types of insulin-dependent diabetes mellitus. ( 27995726 )
2016
27
Age-Adjusted Glycated Albumin at Diagnosis is more Correlated with the Product of Age and Plasma Glucose than Plasma Glucose Alone in Patients with Neonatal Diabetes Mellitus. ( 27121214 )
2016
28
Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation. ( 27849623 )
2016
29
Decreases in Gap Junction Coupling Recovers Ca2+ and Insulin Secretion in Neonatal Diabetes Mellitus, Dependent on Beta Cell Heterogeneity and Noise. ( 27681078 )
2016
30
Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol. ( 27832816 )
2016
31
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. ( 26831749 )
2016
32
[Permanent neonatal diabetes mellitus in a young Ukrainian child]. ( 28633163 )
2016
33
The functional activity of hypothalamic signaling systems in rats with neonatal diabetes mellitus treated with metformin. ( 27193707 )
2016
34
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. ( 26388896 )
2015
35
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )
2015
36
A Novel Mitochondrial DNA Deletion in a Patient with Pearson Syndrome and Neonatal Diabetes Mellitus Provides Insight into Disease Etiology, Severity and Progression. ( 26518169 )
2015
37
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa. ( 26958039 )
2015
38
Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants. ( 25998132 )
2015
39
Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )
2015
40
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. ( 25781672 )
2015
41
A novel SNP in 3' UTR of INS gene: A case report of neonatal diabetes mellitus. ( 26212367 )
2015
42
Age-adjusted glycated albumin accurately reflects blood glucose in patients with neonatal diabetes mellitus: comparison with calculated glycated albumin determined by past blood glucose concentrations. ( 25977574 )
2015
43
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. ( 26587058 )
2015
44
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )
2015
45
A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression. ( 26016877 )
2015
46
Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report. ( 25708516 )
2015
47
A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide. ( 26568660 )
2015
48
Letter to the editor: recent advances in genetic testing and treatment of neonatal diabetes mellitus. ( 25559538 )
2015
49
Paediatric endocrinology: Paradigm shift in genetic testing for neonatal diabetes mellitus-new framework for clinical care. ( 26284444 )
2015
50
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )
2015

Variations for Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Neonatal Diabetes Mellitus:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.127T> G (p.Cys43Gly) single nucleotide variant Pathogenic rs80356666 GRCh37 Chromosome 11, 2182075: 2182075
2 INS NM_000207.2(INS): c.127T> G (p.Cys43Gly) single nucleotide variant Pathogenic rs80356666 GRCh38 Chromosome 11, 2160845: 2160845
3 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
4 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh38 Chromosome 11, 2160878: 2160878
5 ABCC8 NM_000352.4(ABCC8): c.394T> G (p.Phe132Val) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
6 ABCC8 NM_000352.4(ABCC8): c.394T> G (p.Phe132Val) single nucleotide variant Pathogenic rs80356637 GRCh38 Chromosome 11, 17470119: 17470119
7 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh37 Chromosome 11, 17485156: 17485156
8 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh38 Chromosome 11, 17463609: 17463609
9 ABCC8 NM_000352.4(ABCC8): c.-19A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922394 GRCh37 Chromosome 11, 17498342: 17498342
10 ABCC8 NM_000352.4(ABCC8): c.-19A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922394 GRCh38 Chromosome 11, 17476795: 17476795
11 ABCC8 NM_000352.4(ABCC8): c.1572G> A (p.Thr524Thr=) single nucleotide variant Benign/Likely benign rs61748766 GRCh37 Chromosome 11, 17464325: 17464325
12 ABCC8 NM_000352.4(ABCC8): c.1572G> A (p.Thr524Thr=) single nucleotide variant Benign/Likely benign rs61748766 GRCh38 Chromosome 11, 17442778: 17442778
13 ABCC8 NM_000352.4(ABCC8): c.1606T> C (p.Phe536Leu) single nucleotide variant Likely pathogenic rs193922396 GRCh37 Chromosome 11, 17464291: 17464291
14 ABCC8 NM_000352.4(ABCC8): c.1606T> C (p.Phe536Leu) single nucleotide variant Likely pathogenic rs193922396 GRCh38 Chromosome 11, 17442744: 17442744
15 ABCC8 NM_000352.4(ABCC8): c.1616A> G (p.Tyr539Cys) single nucleotide variant Likely pathogenic rs193922397 GRCh37 Chromosome 11, 17464281: 17464281
16 ABCC8 NM_000352.4(ABCC8): c.1616A> G (p.Tyr539Cys) single nucleotide variant Likely pathogenic rs193922397 GRCh38 Chromosome 11, 17442734: 17442734
17 ABCC8 NM_000352.4(ABCC8): c.2117-12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922398 GRCh37 Chromosome 11, 17448713: 17448713
18 ABCC8 NM_000352.4(ABCC8): c.2117-12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922398 GRCh38 Chromosome 11, 17427166: 17427166
19 ABCC8 NM_000352.4(ABCC8): c.3329+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs113873225 GRCh37 Chromosome 11, 17428163: 17428163
20 ABCC8 NM_000352.4(ABCC8): c.3329+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs113873225 GRCh38 Chromosome 11, 17406616: 17406616
21 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh37 Chromosome 11, 17426099: 17426099
22 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh38 Chromosome 11, 17404552: 17404552
23 ABCC8 NM_000352.4(ABCC8): c.3542T> G (p.Phe1181Cys) single nucleotide variant Likely pathogenic rs193922399 GRCh37 Chromosome 11, 17426074: 17426074
24 ABCC8 NM_000352.4(ABCC8): c.3542T> G (p.Phe1181Cys) single nucleotide variant Likely pathogenic rs193922399 GRCh38 Chromosome 11, 17404527: 17404527
25 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh37 Chromosome 11, 17426071: 17426071
26 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh38 Chromosome 11, 17404524: 17404524
27 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
28 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
29 ABCC8 NM_000352.4(ABCC8): c.4136G> T (p.Arg1379Leu) single nucleotide variant Likely pathogenic rs193922401 GRCh37 Chromosome 11, 17417461: 17417461
30 ABCC8 NM_000352.4(ABCC8): c.4136G> T (p.Arg1379Leu) single nucleotide variant Likely pathogenic rs193922401 GRCh38 Chromosome 11, 17395914: 17395914
31 ABCC8 NM_000352.4(ABCC8): c.4368C> G (p.Ile1456Met) single nucleotide variant Likely pathogenic rs193922403 GRCh37 Chromosome 11, 17416762: 17416762
32 ABCC8 NM_000352.4(ABCC8): c.4368C> G (p.Ile1456Met) single nucleotide variant Likely pathogenic rs193922403 GRCh38 Chromosome 11, 17395215: 17395215
33 ABCC8 NM_000352.4(ABCC8): c.4412-14C> T single nucleotide variant Uncertain significance rs193922404 GRCh37 Chromosome 11, 17415960: 17415960
34 ABCC8 NM_000352.4(ABCC8): c.4412-14C> T single nucleotide variant Uncertain significance rs193922404 GRCh38 Chromosome 11, 17394413: 17394413
35 ABCC8 NM_000352.4(ABCC8): c.4553T> G (p.Ile1518Ser) single nucleotide variant Likely pathogenic rs193922406 GRCh37 Chromosome 11, 17415299: 17415299
36 ABCC8 NM_000352.4(ABCC8): c.4553T> G (p.Ile1518Ser) single nucleotide variant Likely pathogenic rs193922406 GRCh38 Chromosome 11, 17393752: 17393752
37 ABCC8 NM_000352.4(ABCC8): c.4564G> A (p.Val1522Met) single nucleotide variant Likely pathogenic rs193922407 GRCh37 Chromosome 11, 17415288: 17415288
38 ABCC8 NM_000352.4(ABCC8): c.4564G> A (p.Val1522Met) single nucleotide variant Likely pathogenic rs193922407 GRCh38 Chromosome 11, 17393741: 17393741
39 ABCC8 NM_000352.4(ABCC8): c.4615G> A (p.Val1539Met) single nucleotide variant Likely pathogenic rs193922408 GRCh37 Chromosome 11, 17414669: 17414669
40 ABCC8 NM_000352.4(ABCC8): c.4615G> A (p.Val1539Met) single nucleotide variant Likely pathogenic rs193922408 GRCh38 Chromosome 11, 17393122: 17393122
41 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148529020 GRCh37 Chromosome 11, 17482160: 17482160
42 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148529020 GRCh38 Chromosome 11, 17460613: 17460613
43 GCK NM_000162.4(GCK): c.45+11C> G single nucleotide variant Uncertain significance rs193922298 GRCh37 Chromosome 7, 44228497: 44228497
44 GCK NM_000162.4(GCK): c.45+11C> G single nucleotide variant Uncertain significance rs193922298 GRCh38 Chromosome 7, 44188898: 44188898
45 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh37 Chromosome 11, 2182210: 2182210
46 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh38 Chromosome 11, 2160980: 2160980
47 INS NM_000207.2(INS): c.188-16C> T single nucleotide variant Benign rs5507 GRCh37 Chromosome 11, 2181243: 2181243
48 INS NM_000207.2(INS): c.188-16C> T single nucleotide variant Benign rs5507 GRCh38 Chromosome 11, 2160013: 2160013
49 INS NM_000207.2(INS): c.71C> T (p.Ala24Val) single nucleotide variant Likely pathogenic rs80356663 GRCh37 Chromosome 11, 2182131: 2182131
50 INS NM_000207.2(INS): c.71C> T (p.Ala24Val) single nucleotide variant Likely pathogenic rs80356663 GRCh38 Chromosome 11, 2160901: 2160901

Expression for Neonatal Diabetes Mellitus

Search GEO for disease gene expression data for Neonatal Diabetes Mellitus.

Pathways for Neonatal Diabetes Mellitus

Pathways related to Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 GCK HNF1B INS NEUROD1 PDX1 PTF1A
2
Show member pathways
12.59 ABCC8 GCK INS KCNJ11 KCNJ5 PDX1
3
Show member pathways
12.1 ABCC8 INS KCNJ11 SLC2A2
4 11.92 HNF1B INS NEUROD1 PDX1 PTF1A SLC2A2
5
Show member pathways
11.86 ABCC8 KCNJ11 KCNJ5
6
Show member pathways
11.83 GCK HNF1B INS NEUROD1 PDX1 SLC2A2
7
Show member pathways
11.71 ABCC8 KCNJ11 KCNJ5
8
Show member pathways
11.5 GCK HNF1B INS NEUROD1 PDX1 PTF1A
9 11.33 ABCC8 KCNJ11 KCNJ5
10 11.28 ABCC8 GCK INS KCNJ11 PDX1 SLC2A2
11
Show member pathways
11.21 ABCC8 GCK HNF1B INS KCNJ11 NEUROD1
12 10.66 INS SLC2A2

GO Terms for Neonatal Diabetes Mellitus

Cellular components related to Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.95 GLIS3 KLF11 NEUROD1 PDX1 PLAGL1 PTF1A
2 response to drug GO:0042493 9.88 ABCC8 HNF1B KCNJ11 NEUROD1
3 potassium ion transport GO:0006813 9.77 ABCC8 KCNJ11 KCNJ5
4 response to glucose GO:0009749 9.72 HNF1B NEUROD1 TCF7L2
5 glucose homeostasis GO:0042593 9.65 GCK INS NEUROD1 PDX1 TCF7L2
6 glucose metabolic process GO:0006006 9.62 GCK INS KCNJ11 PDX1
7 positive regulation of protein localization to nucleus GO:1900182 9.61 EIF2AK3 INS
8 insulin secretion GO:0030073 9.61 HNF1B NEUROD1 PDX1
9 cellular glucose homeostasis GO:0001678 9.59 ABCC8 GCK
10 nitric oxide mediated signal transduction GO:0007263 9.58 NEUROD1 PDX1
11 endocrine pancreas development GO:0031018 9.58 EIF2AK3 NEUROD1 PDX1
12 positive regulation of glycogen biosynthetic process GO:0045725 9.57 GCK INS
13 negative regulation of gluconeogenesis GO:0045721 9.56 GCK INS
14 hindbrain development GO:0030902 9.54 HNF1B NEUROD1 PTF1A
15 exocrine pancreas development GO:0031017 9.52 PDX1 PTF1A
16 amacrine cell differentiation GO:0035881 9.49 NEUROD1 PTF1A
17 detection of glucose GO:0051594 9.46 GCK PDX1
18 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.33 NEUROD1 PDX1 TCF7L2
19 pancreas development GO:0031016 9.26 HNF1B PDX1 PTF1A TCF7L2
20 regulation of insulin secretion GO:0050796 9.02 ABCC8 GCK KCNJ11 NEUROD1 SLC2A2
21 regulation of transcription by RNA polymerase II GO:0006357 10.08 GLIS3 HNF1B KLF11 PDX1 PLAGL1 TCF7L2
22 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 GLIS3 HNF1B NEUROD1 PDX1 PLAGL1 PTF1A

Molecular functions related to Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 GLIS3 HNF1B KLF11 NEUROD1 PDX1 PLAGL1
2 sequence-specific DNA binding GO:0043565 9.65 HNF1B NEUROD1 PDX1 PTF1A TCF7L2
3 inward rectifier potassium channel activity GO:0005242 9.32 KCNJ11 KCNJ5
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 GLIS3 HNF1B KLF11 NEUROD1 PDX1 PLAGL1
5 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11

Sources for Neonatal Diabetes Mellitus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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35 ICD9CM
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37 KEGG
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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