MCID: NNT009
MIFTS: 48

Neonatal Diabetes Mellitus

Categories: Fetal diseases, Metabolic diseases, Genetic diseases, Rare diseases, Endocrine 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 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus. An important gene associated with Neonatal Diabetes Mellitus is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Glyburide and glucagon 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 defined as a disease that affects an infant and their body\'s... 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 73)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, transient neonatal, 1 33.0 ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
2 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.7 ABCC8 EIF2AK3 KCNJ11
3 paternal uniparental disomy of chromosome 6 30.8 HYMAI PLAGL1
4 diabetes mellitus, permanent neonatal 30.8 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
5 intestinal atresia 29.8 GCK PDX1 PLAGL1
6 fanconi-bickel syndrome 29.7 ABCC8 INS SLC2A2
7 beckwith-wiedemann syndrome 29.5 ABCC8 INS PLAGL1 ZFP57
8 pancreatic agenesis 29.4 ABCC8 GCK INS KCNJ11 PDX1 PTF1A
9 hyperinsulinism 28.7 ABCC8 GCK INS KCNJ11 KCNJ5
10 hyperglycemia 28.3 ABCC8 GCK INS KCNJ11 PDX1 SLC2A2
11 diabetes mellitus 25.2 ABCC8 GCK GLIS3 HNF1B HYMAI INS
12 pancreatic beta cell agenesis with neonatal diabetes mellitus 12.1
13 diabetes mellitus, 6q24-related transient neonatal 12.0
14 diabetes mellitus, transient neonatal, 3 11.9
15 diabetes mellitus, transient neonatal, 2 11.9
16 pancreatic and cerebellar agenesis 11.8
17 diabetes mellitus, neonatal, with congenital hypothyroidism 11.7
18 cardiomyopathy, dilated, 1o 10.5 ABCC8 KCNJ11
19 maturity-onset diabetes of the young, type 2 10.5 GCK INS
20 munchausen by proxy 10.5 ABCC8 GCK KCNJ11
21 hyperinsulinemic hypoglycemia, familial, 2 10.4 ABCC8 INS KCNJ11
22 pancreas disease 10.3 ABCC8 INS KCNJ11
23 usher syndrome, type ic 10.3 ABCC8 KCNJ11
24 factitious disorder 10.2 ABCC8 GCK INS KCNJ11
25 gestational diabetes 10.2 GCK INS KCNJ11
26 pancreatitis 10.2
27 endocrine pancreas disease 10.2 ABCC8 GCK INS KCNJ11
28 hyperinsulinemic hypoglycemia 10.2 ABCC8 GCK INS KCNJ11
29 type 1 diabetes mellitus 7 10.2 INS NEUROD1
30 hypoglycemia 10.1 ABCC8 GCK INS KCNJ11
31 cantu syndrome 10.0 ABCC8 KCNJ11
32 aging 10.0
33 macroglossia 10.0
34 renal glucosuria 9.9 HNF1B SLC2A2
35 diabetes mellitus, ketosis-prone 9.8
36 hepatitis 9.8
37 congenital hypothyroidism 9.8
38 hypothyroidism 9.8
39 neonatal hypothyroidism 9.8
40 monogenic diabetes 9.8 ABCC8 GCK INS KCNJ11 PDX1
41 acquired metabolic disease 9.8 GCK INS KCNJ11 SLC2A2
42 acute insulin response 9.8 ABCC8 INS KCNJ11 KCNJ5
43 diaphragmatic hernia, congenital 9.7
44 nondisjunction 9.7
45 pancreas, annular 9.7
46 cerebellar hypoplasia 9.7
47 duodenal atresia 9.7
48 glaucoma 3, primary congenital, a 9.7
49 hyperinsulinemic hypoglycemia, familial, 3 9.7
50 hyperinsulinemic hypoglycemia, familial, 5 9.7

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 9.28 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 10.14 ABCC8 INS EIF2AK3 KCNJ11 GCK NEUROD1
2 growth/size/body region MP:0005378 10.11 HNF1B INS EIF2AK3 KCNJ11 GCK NEUROD1
3 cellular MP:0005384 10.09 PDX1 INS EIF2AK3 NEUROD1 GLIS3 PLAGL1
4 homeostasis/metabolism MP:0005376 10.06 PDX1 HNF1B ABCC8 INS EIF2AK3 KCNJ11
5 mortality/aging MP:0010768 9.93 HNF1B INS EIF2AK3 KCNJ11 GCK NEUROD1
6 liver/biliary system MP:0005370 9.8 HNF1B INS EIF2AK3 GCK PDX1 PTF1A
7 no phenotypic analysis MP:0003012 9.56 ABCC8 INS EIF2AK3 KCNJ11 GLIS3 PDX1
8 renal/urinary system MP:0005367 9.1 PDX1 HNF1B INS GCK NEUROD1 GLIS3

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 glucagon Phase 4
3 Glucagon-Like Peptide 1 Phase 4,Not Applicable
4 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 insulin Phase 4,Phase 2,Not Applicable
6 Insulin, Globin Zinc Phase 4,Phase 2,Not Applicable
7 Pharmaceutical Solutions Phase 3
8
Acetaminophen Approved Not Applicable 103-90-2 1983
9
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
10
Adenosine Approved, Investigational 58-61-7 60961
11 Neuroserpin
12 Antibodies
13 Immunoglobulins
14 Analgesics Not Applicable
15 Analgesics, Non-Narcotic Not Applicable
16 Antipyretics Not Applicable
17 Incretins Not Applicable
18 Peripheral Nervous System Agents Not Applicable
19 Autoantibodies
20 Anti-Arrhythmia Agents
21 Neurotransmitter Agents
22 Vasodilator Agents
23 Astragalus Nutraceutical

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, Heart, Brain

Publications for Neonatal Diabetes Mellitus

Articles related to Neonatal Diabetes Mellitus:

(show top 50) (show all 238)
# 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: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )
2017
11
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
12
Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )
2017
13
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )
2017
14
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome. ( 28652565 )
2017
15
[ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus]. ( 28777862 )
2017
16
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. ( 28371426 )
2017
17
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )
2017
18
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
19
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
20
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. ( 28667717 )
2017
21
Insulin therapy in neonatal diabetes mellitus: a review of the literature. ( 28527303 )
2017
22
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan. ( 27681997 )
2016
23
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China. ( 26839896 )
2016
24
Glycemic control indicator levels at diagnosis of neonatal diabetes mellitus: Comparison with other types of insulin-dependent diabetes mellitus. ( 27995726 )
2016
25
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
26
Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation. ( 27849623 )
2016
27
Decreases in Gap Junction Coupling Recovers Ca2+ and Insulin Secretion in Neonatal Diabetes Mellitus, Dependent on Beta Cell Heterogeneity and Noise. ( 27681078 )
2016
28
Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol. ( 27832816 )
2016
29
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. ( 26831749 )
2016
30
[Permanent neonatal diabetes mellitus in a young Ukrainian child]. ( 28633163 )
2016
31
The functional activity of hypothalamic signaling systems in rats with neonatal diabetes mellitus treated with metformin. ( 27193707 )
2016
32
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. ( 26388896 )
2015
33
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )
2015
34
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
35
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa. ( 26958039 )
2015
36
Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants. ( 25998132 )
2015
37
Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )
2015
38
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. ( 25781672 )
2015
39
A novel SNP in 3' UTR of INS gene: A case report of neonatal diabetes mellitus. ( 26212367 )
2015
40
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
41
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
42
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )
2015
43
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
44
Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report. ( 25708516 )
2015
45
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
46
Letter to the editor: recent advances in genetic testing and treatment of neonatal diabetes mellitus. ( 25559538 )
2015
47
Paediatric endocrinology: Paradigm shift in genetic testing for neonatal diabetes mellitus-new framework for clinical care. ( 26284444 )
2015
48
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )
2015
49
Permanent neonatal diabetes mellitus in Jordan. ( 24825091 )
2014
50
HbA1c can be a useful glycemic control marker for patients with neonatal diabetes mellitus older than 20 weeks of age. ( 24854496 )
2014

Variations for Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Neonatal Diabetes Mellitus:

6
(show all 36)
# 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.4135C> A (p.Arg1379Ser) single nucleotide variant Likely pathogenic rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
8 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Likely pathogenic rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
9 ABCC8 NM_000352.4(ABCC8): c.4136G> T (p.Arg1379Leu) single nucleotide variant Likely pathogenic rs193922401 GRCh37 Chromosome 11, 17417461: 17417461
10 ABCC8 NM_000352.4(ABCC8): c.4136G> T (p.Arg1379Leu) single nucleotide variant Likely pathogenic rs193922401 GRCh38 Chromosome 11, 17395914: 17395914
11 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Likely pathogenic rs148529020 GRCh37 Chromosome 11, 17482160: 17482160
12 ABCC8 NM_000352.4(ABCC8): c.1606T> C (p.Phe536Leu) single nucleotide variant Likely pathogenic rs193922396 GRCh37 Chromosome 11, 17464291: 17464291
13 ABCC8 NM_000352.4(ABCC8): c.1606T> C (p.Phe536Leu) single nucleotide variant Likely pathogenic rs193922396 GRCh38 Chromosome 11, 17442744: 17442744
14 ABCC8 NM_000352.4(ABCC8): c.1616A> G (p.Tyr539Cys) single nucleotide variant Likely pathogenic rs193922397 GRCh37 Chromosome 11, 17464281: 17464281
15 ABCC8 NM_000352.4(ABCC8): c.1616A> G (p.Tyr539Cys) single nucleotide variant Likely pathogenic rs193922397 GRCh38 Chromosome 11, 17442734: 17442734
16 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Likely pathogenic rs148529020 GRCh38 Chromosome 11, 17460613: 17460613
17 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh37 Chromosome 11, 17426099: 17426099
18 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh38 Chromosome 11, 17404552: 17404552
19 ABCC8 NM_000352.4(ABCC8): c.3542T> G (p.Phe1181Cys) single nucleotide variant Likely pathogenic rs193922399 GRCh37 Chromosome 11, 17426074: 17426074
20 ABCC8 NM_000352.4(ABCC8): c.3542T> G (p.Phe1181Cys) single nucleotide variant Likely pathogenic rs193922399 GRCh38 Chromosome 11, 17404527: 17404527
21 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh37 Chromosome 11, 17426071: 17426071
22 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh38 Chromosome 11, 17404524: 17404524
23 ABCC8 NM_000352.4(ABCC8): c.4368C> G (p.Ile1456Met) single nucleotide variant Likely pathogenic rs193922403 GRCh37 Chromosome 11, 17416762: 17416762
24 ABCC8 NM_000352.4(ABCC8): c.4368C> G (p.Ile1456Met) single nucleotide variant Likely pathogenic rs193922403 GRCh38 Chromosome 11, 17395215: 17395215
25 ABCC8 NM_000352.4(ABCC8): c.4553T> G (p.Ile1518Ser) single nucleotide variant Likely pathogenic rs193922406 GRCh37 Chromosome 11, 17415299: 17415299
26 ABCC8 NM_000352.4(ABCC8): c.4553T> G (p.Ile1518Ser) single nucleotide variant Likely pathogenic rs193922406 GRCh38 Chromosome 11, 17393752: 17393752
27 ABCC8 NM_000352.4(ABCC8): c.4564G> A (p.Val1522Met) single nucleotide variant Likely pathogenic rs193922407 GRCh37 Chromosome 11, 17415288: 17415288
28 ABCC8 NM_000352.4(ABCC8): c.4564G> A (p.Val1522Met) single nucleotide variant Likely pathogenic rs193922407 GRCh38 Chromosome 11, 17393741: 17393741
29 ABCC8 NM_000352.4(ABCC8): c.4615G> A (p.Val1539Met) single nucleotide variant Likely pathogenic rs193922408 GRCh37 Chromosome 11, 17414669: 17414669
30 ABCC8 NM_000352.4(ABCC8): c.4615G> A (p.Val1539Met) single nucleotide variant Likely pathogenic rs193922408 GRCh38 Chromosome 11, 17393122: 17393122
31 INS NM_000207.2(INS): c.71C> T (p.Ala24Val) single nucleotide variant Likely pathogenic rs80356663 GRCh37 Chromosome 11, 2182131: 2182131
32 INS NM_000207.2(INS): c.71C> T (p.Ala24Val) single nucleotide variant Likely pathogenic rs80356663 GRCh38 Chromosome 11, 2160901: 2160901
33 KCNJ11 NM_000525.3(KCNJ11): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356611 GRCh37 Chromosome 11, 17409490: 17409490
34 KCNJ11 NM_000525.3(KCNJ11): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356611 GRCh38 Chromosome 11, 17387943: 17387943
35 KCNJ11 NM_000525.3(KCNJ11): c.5T> C (p.Leu2Pro) single nucleotide variant Likely pathogenic rs193922565 GRCh37 Chromosome 11, 17409634: 17409634
36 KCNJ11 NM_000525.3(KCNJ11): c.5T> C (p.Leu2Pro) single nucleotide variant Likely pathogenic rs193922565 GRCh38 Chromosome 11, 17388087: 17388087

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
13.21 GCK HNF1B INS NEUROD1 PDX1 PTF1A
2
Show member pathways
12.77 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
11.73 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 10.68 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 9.88 GLIS3 KLF11 NEUROD1 PDX1 PLAGL1 PTF1A
2 response to drug GO:0042493 9.86 ABCC8 HNF1B KCNJ11 NEUROD1
3 potassium ion transport GO:0006813 9.77 ABCC8 KCNJ11 KCNJ5
4 response to glucose GO:0009749 9.7 HNF1B INS NEUROD1
5 pancreas development GO:0031016 9.61 PDX1 PTF1A
6 positive regulation of protein localization to nucleus GO:1900182 9.6 EIF2AK3 INS
7 nitric oxide mediated signal transduction GO:0007263 9.58 NEUROD1 PDX1
8 positive regulation of glycogen biosynthetic process GO:0045725 9.57 GCK INS
9 glucose homeostasis GO:0042593 9.56 GCK INS NEUROD1 PDX1
10 negative regulation of gluconeogenesis GO:0045721 9.54 GCK INS
11 insulin secretion GO:0030073 9.54 HNF1B NEUROD1 PDX1
12 exocrine pancreas development GO:0031017 9.51 PDX1 PTF1A
13 endocrine pancreas development GO:0031018 9.5 EIF2AK3 NEUROD1 PDX1
14 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.48 NEUROD1 PDX1
15 amacrine cell differentiation GO:0035881 9.46 NEUROD1 PTF1A
16 detection of glucose GO:0051594 9.43 GCK PDX1
17 hindbrain development GO:0030902 9.33 HNF1B NEUROD1 PTF1A
18 glucose metabolic process GO:0006006 9.26 GCK INS KCNJ11 PDX1
19 regulation of insulin secretion GO:0050796 9.02 ABCC8 GCK KCNJ11 NEUROD1 SLC2A2
20 transcription, DNA-templated GO:0006351 10.18 GLIS3 HNF1B KLF11 NEUROD1 PDX1 PLAGL1
21 regulation of transcription, DNA-templated GO:0006355 10.15 GLIS3 HNF1B INS KLF11 NEUROD1 PDX1
22 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 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 9.76 GLIS3 HNF1B KLF11 NEUROD1 PDX1 PLAGL1
2 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ11 KCNJ5
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.23 GLIS3 HNF1B KLF11 NEUROD1 PDX1 PLAGL1
4 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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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