NDM
MCID: NNT009
MIFTS: 50

Neonatal Diabetes Mellitus (NDM)

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 74 58 29 54 6 15 71 32
Diabetes Mellitus Syndrome in Newborn Infant 12
Ndm 58

Characteristics:

Orphanet epidemiological data:

58
neonatal diabetes mellitus
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:11717
ICD9CM 34 775.1
NCIt 49 C99248
SNOMED-CT 67 49817004
ICD10 32 P70.2
ICD10 via Orphanet 33 P70.2
UMLS via Orphanet 72 C0158981
Orphanet 58 ORPHA224
UMLS 71 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, 6q24-related transient neonatal and transient neonatal diabetes mellitus. An important gene associated with Neonatal Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Integration of energy metabolism. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas, kidney and heart, and related phenotypes are shRNA abundance <= 50% and cellular

Wikipedia : 74 Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce... 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 Transient Neonatal Diabetes Mellitus
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 162)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 34.7 ZFP57 PLAGL1 HYMAI
2 transient neonatal diabetes mellitus 34.6 ZFP57 TNDM SLC2A2 PTF1A PLAGL1 PDX1
3 diabetes mellitus, transient neonatal, 1 34.1 ZFP57 PLAGL1
4 diabetes mellitus, permanent neonatal 33.9 ZFP57 SLC2A2 SLC19A2 PTF1A PLAGL1 PDX1
5 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 33.3 PTF1A KCNJ11 INS GLIS3 EIF2AK3 ABCC8
6 pancreatic agenesis 33.1 PTF1A PDX1 NEUROD1 KCNJ11 INS GCK
7 hyperglycemia 31.7 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
8 diabetes mellitus, ketosis-prone 31.4 KCNJ11 INS ABCC8
9 hypoglycemia 31.3 SLC2A2 KCNJ5 KCNJ11 INS GCK ABCC8
10 paternal uniparental disomy of chromosome 6 31.3 TNDM PLAGL1 HYMAI
11 umbilical hernia 31.0 PLAGL1 HYMAI ABCC8
12 monogenic diabetes 30.8 SLC19A2 PDX1 KCNJ11 INS HNF1B GCK
13 fanconi-bickel syndrome 30.8 SLC2A2 INS ABCC8
14 hyperinsulinism 30.8 KCNJ5 KCNJ11 INS GCK ABCC8
15 gestational diabetes 30.8 TCF7L2 KCNJ11 INS GCK ABCC8
16 pancreas, dorsal, agenesis of 30.7 PTF1A PDX1
17 diabetes mellitus 30.6 ZFP57 TNDM TCF7L2 SLC2A2 SLC19A2 PTF1A
18 diabetes mellitus, insulin-dependent 30.5 SLC2A2 PDX1 NEUROD1 INS-IGF2 INS GCK
19 maturity-onset diabetes of the young, type 4 30.4 SLC2A2 PDX1 NEUROD1 KLF11 KCNJ11 INS
20 glucose intolerance 30.4 TCF7L2 KCNJ11 INS GCK ABCC8
21 maturity-onset diabetes of the young 30.4 TCF7L2 SLC2A2 PTF1A PDX1 NEUROD1 KLF11
22 beckwith-wiedemann syndrome 30.4 ZFP57 PLAGL1 KCNJ11 INS-IGF2 INS ABCC8
23 diabetes mellitus, noninsulin-dependent 30.2 TCF7L2 SLC2A2 PDX1 NEUROD1 KCNJ5 KCNJ11
24 renal cysts and diabetes syndrome 30.2 PTF1A PDX1 NEUROD1 KLF11 KCNJ11 HNF1B
25 maturity-onset diabetes of the young, type 2 30.2 TCF7L2 SLC2A2 PDX1 NEUROD1 KLF11 KCNJ11
26 pancreatic beta cell agenesis with neonatal diabetes mellitus 12.6
27 obsolete: pancreatic beta cell agenesis with neonatal diabetes mellitus 12.4
28 diabetes mellitus, transient neonatal, 3 12.4
29 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
30 diabetes mellitus, transient neonatal, 2 12.3
31 pancreatic and cerebellar agenesis 12.3
32 nondystrophic myotonia 11.3
33 48,xyyy 11.0
34 munchausen by proxy 10.6 KCNJ11 GCK ABCC8
35 hyperinsulinemic hypoglycemia, familial, 7 10.6 KCNJ11 GCK ABCC8
36 hyperinsulinemic hypoglycemia, familial, 6 10.6 INS GCK ABCC8
37 asphyxia neonatorum 10.6 KCNJ11 INS ABCC8
38 donohue syndrome 10.6 KCNJ11 INS GCK
39 cardiomyopathy, dilated, 1o 10.6 SLC2A2 KCNJ11 ABCC8
40 maturity-onset diabetes of the young, type 14 10.6 PDX1 KLF11 GCK
41 diabetes mellitus, insulin-dependent, 2 10.6 INS-IGF2 INS
42 gestational trophoblastic neoplasm 10.5 ZFP57 PLAGL1 HYMAI
43 intestinal atresia 10.5 PLAGL1 PDX1 GCK
44 hyperinsulinemic hypoglycemia, familial, 2 10.5 KCNJ11 INS ABCC8
45 hyperinsulinemic hypoglycemia 10.5 PDX1 KCNJ11 INS GCK ABCC8
46 endocrine pancreas disease 10.5 SLC2A2 KCNJ11 INS GCK ABCC8
47 renal glucosuria 10.5 SLC2A2 INS HNF1B
48 carbohydrate metabolic disorder 10.5 SLC2A2 KCNJ11 INS GCK ABCC8
49 type 1 diabetes mellitus 11 10.5 PDX1 NEUROD1
50 adult syndrome 10.5 PLAGL1 INS-IGF2 INS

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 EIF2AK3 GCK GLIS3 INS NEUROD1 PDX1
2 endocrine/exocrine gland MP:0005379 10.22 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
3 homeostasis/metabolism MP:0005376 10.17 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
4 growth/size/body region MP:0005378 10.15 EIF2AK3 GCK GLIS3 HNF1B INS KCNJ11
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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4 10238-21-8 3488
2
Glucagon Approved Phase 4 16941-32-5
3 Hypoglycemic Agents Phase 4
4 Glucagon-Like Peptide 1 Phase 4
5 Pharmaceutical Solutions Phase 3
6
Adenosine Approved, Investigational 58-61-7 60961
7 insulin
8 Insulin, Globin Zinc
9 Antibodies
10 Immunoglobulins
11 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to ABCC8 (SUR1) Mutations Unknown status NCT02624830 Phase 4 Sulfonylurea
2 Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to KCNJ11 (KIR6.2) Mutations Completed NCT02624817 Phase 4 Sulfonylurea
3 Tolerance and Acceptability of Glibentek in Patients With Neonatale Diabetes Secondary to Mutations in K+-ATP Channels Completed NCT02375828 Phase 3 Glibenclamide
4 Sulfonylureas in Neonatal Diabetes Mellitus With Mutations of 2 Type of Subunits Kir6.2 and SUR1 of the Pancreatic Beta-cell ATP-sensitive K+ Channel. Completed NCT00610038 Phase 2 glibenclamide
5 Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults Completed NCT02634229
6 Activating Mutation in the Gene Encoding the Adenosine Tri-phosphate Sensitive Potassium Channel Subunits (SUR 1, Kir 6.2) in Diabetic Patients Under the Age of One Year Not yet recruiting NCT03519217

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:

40
Pancreas, Kidney, Heart, Testes, T Cells, Brain, Eye

Publications for Neonatal Diabetes Mellitus

Articles related to Neonatal Diabetes Mellitus:

(show top 50) (show all 554)
# Title Authors PMID Year
1
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. 54 61 6
17919176 2007
2
Molecular basis of neonatal diabetes in Japanese patients. 54 61 6
17635943 2007
3
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 54 61 6
16885549 2006
4
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 61 6
17446535 2007
5
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. 6
17490422 2007
6
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. 6
17389331 2007
7
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. 6
16636122 2006
8
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 6
16731833 2006
9
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. 6
10545531 1999
10
Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. 54 61
20184447 2010
11
Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. 54 61
20220270 2010
12
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 54 61
19790256 2009
13
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 54 61
19496967 2009
14
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. 54 61
19247925 2009
15
Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. 54 61
19155788 2009
16
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. 54 61
19169493 2008
17
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. 54 61
18981553 2008
18
Diagnosis and treatment of neonatal diabetes: a United States experience. 54 61
18662362 2008
19
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 54 61
18571549 2008
20
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. 54 61
18497752 2008
21
[Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case]. 54 61
18559200 2008
22
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. 54 61
18073297 2008
23
Neonatal hyperglycaemia and abnormal development of the pancreas. 54 61
18279778 2008
24
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 54 61
18025464 2007
25
[Neonatal diabetes: a disease linked to multiple mechanisms]. 54 61
17931842 2007
26
Trafficking of ATP-sensitive potassium channels in health and disease. 54 61
17956278 2007
27
Permanent neonatal diabetes due to KCNJ11 gene mutation. 54 61
17978456 2007
28
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. 54 61
17659066 2007
29
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 54 61
17317760 2007
30
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 54 61
17213273 2007
31
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. 54 61
17341487 2007
32
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences. 54 61
17923772 2007
33
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene. 54 61
16816952 2006
34
ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond. 54 61
16885555 2006
35
Neonatal diabetes mellitus. 54 61
16891687 2006
36
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 54 61
16602010 2006
37
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. 54 61
16615080 2006
38
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. 54 61
17491708 2006
39
[The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus]. 54 61
17239309 2006
40
Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes. A first case report. 54 61
16166771 2006
41
[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. 54 61
16375017 2005
42
Letter Re: Neonatal diabetes mellitus and mutation in the HNF-1beta gene. 54 61
16207896 2005
43
Neonatal diabetes mellitus: Insulin pump as an alternative management strategy. 54 61
16150072 2005
44
Targeting glucokinase activation for the treatment of type 2 diabetes--a status review. 54 61
16159025 2005
45
Neonatal diabetes mellitus: from understudy to center stage. 54 61
16012265 2005
46
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. 54 61
15963039 2005
47
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. 54 61
15910877 2005
48
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. 54 61
15864298 2005
49
ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. 54 61
15888726 2005
50
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 54 61
15580558 2005

Variations for Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Neonatal Diabetes Mellitus:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INS NM_000207.3(INS):c.127T>G (p.Cys43Gly)SNV Pathogenic 21114 rs80356666 11:2182075-2182075 11:2160845-2160845
2 INS , INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser)SNV Pathogenic 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
3 ABCC8 NM_001287174.2(ABCC8):c.394T>G (p.Phe132Val)SNV Pathogenic 21166 rs80356637 11:17491666-17491666 11:17470119-17470119
4 ABCC8 NM_001287174.2(ABCC8):c.3548G>A (p.Arg1183Gln)SNV Pathogenic/Likely pathogenic 35611 rs193922400 11:17426071-17426071 11:17404524-17404524
5 KCNJ11 NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln)SNV Pathogenic/Likely pathogenic 36431 rs80356611 11:17409490-17409490 11:17387943-17387943
6 INS NM_000207.3(INS):c.71C>T (p.Ala24Val)SNV Likely pathogenic 36401 rs80356663 11:2182131-2182131 11:2160901-2160901
7 KCNJ11 NM_000525.3(KCNJ11):c.5T>C (p.Leu2Pro)SNV Likely pathogenic 36433 rs193922565 11:17409634-17409634 11:17388087-17388087
8 ABCC8 NM_001287174.2(ABCC8):c.4139G>T (p.Arg1380Leu)SNV Likely pathogenic 35615 rs193922401 11:17417461-17417461 11:17395914-17395914
9 ABCC8 NM_001287174.2(ABCC8):c.4371C>G (p.Ile1457Met)SNV Likely pathogenic 35618 rs193922403 11:17416762-17416762 11:17395215-17395215
10 ABCC8 NM_001287174.2(ABCC8):c.4556T>G (p.Ile1519Ser)SNV Likely pathogenic 35621 rs193922406 11:17415299-17415299 11:17393752-17393752
11 ABCC8 NM_001287174.2(ABCC8):c.4567G>A (p.Val1523Met)SNV Likely pathogenic 35622 rs193922407 11:17415288-17415288 11:17393741-17393741
12 ABCC8 NM_001287174.2(ABCC8):c.4618G>A (p.Val1540Met)SNV Likely pathogenic 35623 rs193922408 11:17414669-17414669 11:17393122-17393122
13 ABCC8 NM_001287174.2(ABCC8):c.1606T>C (p.Phe536Leu)SNV Likely pathogenic 35605 rs193922396 11:17464291-17464291 11:17442744-17442744
14 ABCC8 NM_001287174.2(ABCC8):c.1616A>G (p.Tyr539Cys)SNV Likely pathogenic 35606 rs193922397 11:17464281-17464281 11:17442734-17442734
15 ABCC8 NM_001287174.2(ABCC8):c.3520G>A (p.Val1174Met)SNV Likely pathogenic 35609 rs141322087 11:17426099-17426099 11:17404552-17404552
16 ABCC8 NM_001287174.2(ABCC8):c.3545T>G (p.Phe1182Cys)SNV Likely pathogenic 35610 rs193922399 11:17426074-17426074 11:17404527-17404527
17 ABCC8 NM_001287174.2(ABCC8):c.2117-12C>ASNV Conflicting interpretations of pathogenicity 35607 rs193922398 11:17448713-17448713 11:17427166-17427166
18 ABCC8 NM_001287174.2(ABCC8):c.-19A>GSNV Conflicting interpretations of pathogenicity 35602 rs193922394 11:17498342-17498342 11:17476795-17476795
19 ABCC8 NM_001287174.2(ABCC8):c.413-5G>ASNV Conflicting interpretations of pathogenicity 35613 rs186946111 11:17485156-17485156 11:17463609-17463609
20 PDX1 NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup)short repeat Conflicting interpretations of pathogenicity 36412 rs193922357 13:28498712-28498714 13:27924562-27924563
21 ABCC8 NM_001287174.2(ABCC8):c.4415-14C>TSNV Uncertain significance 35619 rs193922404 11:17415960-17415960 11:17394413-17394413
22 GCK NM_000162.5(GCK):c.45+11C>GSNV Uncertain significance 36219 rs193922298 7:44228497-44228497 7:44188898-44188898
23 PDX1 NM_000209.4(PDX1):c.216C>T (p.Pro72=)SNV Likely benign 36405 rs193922353 13:28494491-28494491 13:27920354-27920354
24 KCNJ11 NM_000525.3(KCNJ11):c.54A>G (p.Ala18=)SNV Likely benign 36432 rs193922564 11:17409585-17409585 11:17388038-17388038
25 KCNJ11 NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys)SNV Benign/Likely benign 36430 rs41282930 11:17408485-17408485 11:17386938-17386938
26 INS , INS-IGF2 , TH NM_000207.3(INS):c.-9C>TSNV Benign/Likely benign 36399 rs5505 11:2182210-2182210 11:2160980-2160980
27 ABCC8 NM_001287174.2(ABCC8):c.1572G>A (p.Thr524=)SNV Benign/Likely benign 35604 rs61748766 11:17464325-17464325 11:17442778-17442778
28 INS NM_000207.3(INS):c.188-16C>TSNV Benign 36400 rs5507 11:2181243-2181243 11:2160013-2160013

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 TCF7L2 SLC2A2 PDX1 KCNJ5 KCNJ11 INS
2
Show member pathways
12.1 SLC2A2 KCNJ11 INS ABCC8
3 11.92 SLC2A2 PTF1A PDX1 NEUROD1 INS HNF1B
4
Show member pathways
11.83 SLC2A2 PDX1 NEUROD1 INS HNF1B GCK
5
Show member pathways
11.71 KCNJ5 KCNJ11 ABCC8
6
Show member pathways
11.7 SLC2A2 PTF1A PDX1 NEUROD1 INS HNF1B
7 11.33 KCNJ5 KCNJ11 ABCC8
8
Show member pathways
11.26 SLC2A2 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS
9 11.08 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
10 10.66 SLC2A2 INS

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 nuclear chromatin GO:0000790 9.43 TCF7L2 PTF1A PDX1 NEUROD1 KLF11 HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 TCF7L2 PTF1A PLAGL1 PDX1 NEUROD1 HNF1B
2 regulation of transcription by RNA polymerase II GO:0006357 10.03 TCF7L2 PLAGL1 PDX1 KLF11 HNF1B GLIS3
3 response to drug GO:0042493 9.89 PDX1 NEUROD1 KCNJ11 HNF1B ABCC8
4 positive regulation of insulin secretion GO:0032024 9.69 TCF7L2 PDX1 GCK
5 response to glucose GO:0009749 9.67 TCF7L2 PDX1 NEUROD1 HNF1B
6 glucose homeostasis GO:0042593 9.65 TCF7L2 PDX1 NEUROD1 INS GCK
7 insulin secretion GO:0030073 9.63 PDX1 NEUROD1 HNF1B
8 glucose metabolic process GO:0006006 9.62 PDX1 KCNJ11 INS GCK
9 endocrine pancreas development GO:0031018 9.61 PDX1 NEUROD1 EIF2AK3
10 cellular glucose homeostasis GO:0001678 9.59 GCK ABCC8
11 nitric oxide mediated signal transduction GO:0007263 9.58 PDX1 NEUROD1
12 negative regulation of gluconeogenesis GO:0045721 9.58 INS GCK
13 hindbrain development GO:0030902 9.58 PTF1A NEUROD1 HNF1B
14 positive regulation of glycogen biosynthetic process GO:0045725 9.57 INS GCK
15 exocrine pancreas development GO:0031017 9.54 PTF1A PDX1
16 amacrine cell differentiation GO:0035881 9.52 PTF1A NEUROD1
17 detection of glucose GO:0051594 9.48 PDX1 GCK
18 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.33 TCF7L2 PDX1 NEUROD1
19 pancreas development GO:0031016 9.26 TCF7L2 PTF1A PDX1 HNF1B
20 regulation of insulin secretion GO:0050796 9.02 SLC2A2 NEUROD1 KCNJ11 GCK ABCC8

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 9.61 ZFP57 TCF7L2 PTF1A PLAGL1 PDX1 NEUROD1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TCF7L2 PTF1A PLAGL1 PDX1 NEUROD1 KLF11
3 inward rectifier potassium channel activity GO:0005242 9.16 KCNJ5 KCNJ11

Sources for Neonatal Diabetes Mellitus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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