NDM
MCID: NNT058
MIFTS: 52

Neonatal Diabetes (NDM)

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

Aliases & Classifications for Neonatal Diabetes

MalaCards integrated aliases for Neonatal Diabetes:

Name: Neonatal Diabetes 12
Neonatal Diabetes Mellitus 12 74 58 29 54 6 15 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 50 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

Disease Ontology : 12 A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.

MalaCards based summary : Neonatal Diabetes, also known as neonatal diabetes mellitus, is related to diabetes mellitus, 6q24-related transient neonatal and diabetes mellitus, permanent neonatal, 4. An important gene associated with Neonatal Diabetes is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Glucagon and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and kidney, and related phenotypes are cellular and endocrine/exocrine gland

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

Diseases in the Neonatal Diabetes 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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 290)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 33.0 ZFP57 PLAGL1 HYMAI
2 diabetes mellitus, permanent neonatal, 4 32.7 INS-IGF2 INS
3 diabetes mellitus, transient neonatal, 1 32.7 ZFP57 PLAGL1
4 diabetes mellitus, permanent neonatal, 1 32.6 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
5 diabetes mellitus, neonatal, with congenital hypothyroidism 32.3 NEUROD1 GLIS3
6 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 31.8 PTF1A KCNJ11 INS IER3IP1 GLIS3 EIF2AK3
7 transient neonatal diabetes mellitus 31.2 ZFP57 TNDM SLC2A2 RFX6 PTF1A PLAGL1
8 diabetes mellitus, ketosis-prone 31.1 KCNJ11 INS ABCC8
9 hypoglycemia 31.0 SLC2A2 KCNJ11 INS GCK ABCC8
10 hyperglycemia 31.0 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
11 permanent neonatal diabetes mellitus 30.8 ZFP57 SLC2A2 RFX6 PTF1A PLAGL1 PDX1
12 paternal uniparental disomy of chromosome 6 30.8 TNDM PLAGL1 HYMAI
13 hyperinsulinism 30.7 KCNJ5 KCNJ11 INS GCK ABCC8
14 monogenic diabetes 30.7 PDX1 KCNJ11 INS-IGF2 INS HNF1B GCK
15 pancreatic agenesis 30.7 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
16 gestational diabetes 30.6 KCNJ11 INS GCK ABCC8
17 type 1 diabetes mellitus 30.6 PDX1 NEUROD1 INS GCK
18 fanconi-bickel syndrome 30.6 SLC2A2 INS ABCC8
19 umbilical hernia 30.5 PLAGL1 KCNJ11 HYMAI ABCC8
20 gestational trophoblastic neoplasm 30.4 ZFP57 PLAGL1 HYMAI
21 pancreas, annular 30.3 RFX6 PTF1A
22 intestinal atresia 30.2 RFX6 PLAGL1 PDX1 GLIS3 GCK
23 hyperinsulinemic hypoglycemia 30.1 PDX1 KCNJ5 KCNJ11 INS GCK ABCC8
24 beckwith-wiedemann syndrome 30.1 ZFP57 PLAGL1 KCNJ11 INS-IGF2 INS HYMAI
25 duodenal atresia 30.1 RFX6 HNF1B
26 hyperproinsulinemia 30.0 INS-IGF2 INS
27 acute insulin response 30.0 KCNJ5 KCNJ11 INS ABCC8
28 silver-russell syndrome 1 29.9 ZFP57 PLAGL1 INS-IGF2
29 prediabetes syndrome 29.9 SLC2A2 INS GCK
30 diarrhea 4, malabsorptive, congenital 29.9 RFX6 NEUROG3 NEUROD1
31 insulinoma 29.8 SLC2A2 PDX1 NEUROD1 INS GCK ABCC8
32 maturity-onset diabetes of the young, type 13 29.8 PDX1 NEUROD1 KCNJ11 GCK ABCC8
33 maturity-onset diabetes of the young, type 2 29.8 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF1B
34 maturity-onset diabetes of the young, type 10 29.7 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS HNF1B
35 renal cysts and diabetes syndrome 29.7 PDX1 NEUROD1 KCNJ11 HNF1B GCK ABCC8
36 glucose intolerance 29.6 NEUROG3 NEUROD1 KCNJ11 INS GCK ABCC8
37 maturity-onset diabetes of the young 29.6 ZFP57 SLC2A2 RFX6 PTF1A PDX1 NEUROG3
38 diabetes mellitus 29.5 ZFP57 TNDM SLC2A2 RFX6 PTF1A PLAGL1
39 maturity-onset diabetes of the young, type 4 29.5 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ11 INS
40 type 2 diabetes mellitus 29.3 SLC2A2 PTF1A PDX1 NEUROG3 NEUROD1 KCNJ5
41 diabetes mellitus, permanent neonatal, 2 11.6
42 diabetes mellitus, permanent neonatal, 3 11.6
43 diabetes mellitus, transient neonatal, 3 11.5
44 diabetes mellitus, transient neonatal, 2 11.5
45 pancreatic and cerebellar agenesis 11.4
46 mitchell-riley syndrome 11.2
47 intermediate dend syndrome 11.1
48 microcephaly, epilepsy, and diabetes syndrome 11.1
49 pancreatic beta cell agenesis with neonatal diabetes mellitus 11.1
50 nondystrophic myotonia 11.0

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



Diseases related to Neonatal Diabetes

Symptoms & Phenotypes for Neonatal Diabetes

MGI Mouse Phenotypes related to Neonatal Diabetes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 EIF2AK3 GCK GLIS3 HNF1B INS NEUROD1
2 endocrine/exocrine gland MP:0005379 10.22 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
3 growth/size/body region MP:0005378 10.21 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
4 homeostasis/metabolism MP:0005376 10.13 ABCC8 EIF2AK3 GCK GLIS3 HNF1B INS
5 mortality/aging MP:0010768 10.03 EIF2AK3 GCK GLIS3 HNF1B IER3IP1 INS
6 digestive/alimentary MP:0005381 9.98 EIF2AK3 INS NEUROD1 NEUROG3 PDX1 PTF1A
7 liver/biliary system MP:0005370 9.8 EIF2AK3 GCK HNF1B INS PDX1 PTF1A
8 no phenotypic analysis MP:0003012 9.61 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 NEUROG3
9 renal/urinary system MP:0005367 9.17 GCK GLIS3 HNF1B INS NEUROD1 NEUROG3

Drugs & Therapeutics for Neonatal Diabetes

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 4 16941-32-5
2
Glyburide Approved Phase 4 10238-21-8 3488
3 Insulin, Globin Zinc Phase 4
4 insulin Phase 4
5 Hypoglycemic Agents Phase 4
6 Glucagon-Like Peptide 1 Phase 4
7 Pharmaceutical Solutions Phase 3
8
Acetaminophen Approved 103-90-2 1983
9 Autoantibodies
10 Analgesics, Non-Narcotic
11 Analgesics
12 Incretins
13 Antipyretics

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 KCNJ11 (KIR6.2) Mutations Completed NCT02624817 Phase 4 Sulfonylurea
2 Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to ABCC8 (SUR1) Mutations Recruiting NCT02624830 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 Understanding Beta-cell Destruction Through the Study of EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
6 Assessing the Effect of Food Composition on Postprandial Insulin Secretion in KCNJ11 Neonatal Diabetes (FoND Study) Recruiting NCT02921906 Paracetamol

Search NIH Clinical Center for Neonatal Diabetes

Genetic Tests for Neonatal Diabetes

Genetic tests related to Neonatal Diabetes:

# Genetic test Affiliating Genes
1 Neonatal Diabetes Mellitus 29

Anatomical Context for Neonatal Diabetes

MalaCards organs/tissues related to Neonatal Diabetes:

40
Pancreas, Brain, Kidney, Thyroid, Pancreatic Islet, Eye, Cerebellum

Publications for Neonatal Diabetes

Articles related to Neonatal Diabetes:

(show top 50) (show all 1169)
# 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. 6 54 61
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. 61 54 6
16885549 2006
4
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 6 61
17446535 2007
5
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. 6 61
17490422 2007
6
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. 61 6
17389331 2007
7
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. 6 61
16636122 2006
8
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 61 6
16731833 2006
9
Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. 61 54
20184447 2010
10
Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. 54 61
20220270 2010
11
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 54 61
19790256 2009
12
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 61 54
19496967 2009
13
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
14
Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. 54 61
19155788 2009
15
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. 61 54
18981553 2008
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. 61 54
19169493 2008
17
Diagnosis and treatment of neonatal diabetes: a United States experience. 54 61
18662362 2008
18
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 54 61
18571549 2008
19
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. 61 54
18497752 2008
20
[Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case]. 61 54
18559200 2008
21
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
22
Neonatal hyperglycaemia and abnormal development of the pancreas. 61 54
18279778 2008
23
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 61 54
18025464 2007
24
[Neonatal diabetes: a disease linked to multiple mechanisms]. 54 61
17931842 2007
25
Trafficking of ATP-sensitive potassium channels in health and disease. 61 54
17956278 2007
26
Permanent neonatal diabetes due to KCNJ11 gene mutation. 61 54
17978456 2007
27
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. 61 54
17659066 2007
28
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 54 61
17317760 2007
29
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
30
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. 54 61
17341487 2007
31
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences. 61 54
17923772 2007
32
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
33
ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond. 54 61
16885555 2006
34
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 61 54
16602010 2006
35
Neonatal diabetes mellitus. 61 54
16891687 2006
36
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. 61 54
16615080 2006
37
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. 61 54
17491708 2006
38
[The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus]. 61 54
17239309 2006
39
Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes. A first case report. 61 54
16166771 2006
40
[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. 61 54
16375017 2005
41
Letter Re: Neonatal diabetes mellitus and mutation in the HNF-1beta gene. 61 54
16207896 2005
42
Targeting glucokinase activation for the treatment of type 2 diabetes--a status review. 61 54
16159025 2005
43
Neonatal diabetes mellitus: Insulin pump as an alternative management strategy. 61 54
16150072 2005
44
Neonatal diabetes mellitus: from understudy to center stage. 61 54
16012265 2005
45
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. 61 54
15963039 2005
46
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. 54 61
15910877 2005
47
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. 61 54
15864298 2005
48
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 61 54
15580558 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
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 54 61
15583126 2004

Variations for Neonatal Diabetes

ClinVar genetic disease variations for Neonatal Diabetes:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) SNV Likely pathogenic 35605 rs193922396 11:17464291-17464291 11:17442744-17442744
2 ABCC8 NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) SNV Likely pathogenic 35606 rs193922397 11:17464281-17464281 11:17442734-17442734
3 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) SNV Likely pathogenic 35609 rs141322087 11:17426099-17426099 11:17404552-17404552
4 ABCC8 NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) SNV Likely pathogenic 35610 rs193922399 11:17426074-17426074 11:17404527-17404527
5 ABCC8 NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) SNV Likely pathogenic 35611 rs193922400 11:17426071-17426071 11:17404524-17404524
6 ABCC8 NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) SNV Likely pathogenic 35621 rs193922406 11:17415299-17415299 11:17393752-17393752
7 ABCC8 NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) SNV Likely pathogenic 35622 rs193922407 11:17415288-17415288 11:17393741-17393741
8 ABCC8 NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) SNV Likely pathogenic 35623 rs193922408 11:17414669-17414669 11:17393122-17393122
9 ABCC8 NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) SNV Likely pathogenic 35615 rs193922401 11:17417461-17417461 11:17395914-17395914
10 ABCC8 NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) SNV Likely pathogenic 35618 rs193922403 11:17416762-17416762 11:17395215-17395215
11 KCNJ11 NM_000525.3(KCNJ11):c.5T>C (p.Leu2Pro) SNV Likely pathogenic 36433 rs193922565 11:17409634-17409634 11:17388087-17388087
12 KCNJ11 NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) SNV Likely pathogenic 36431 rs80356611 11:17409490-17409490 11:17387943-17387943
13 INS-IGF2 NM_000207.3(INS):c.71C>T (p.Ala24Val) SNV Likely pathogenic 36401 rs80356663 11:2182131-2182131 11:2160901-2160901
14 ABCC8 NM_001287174.2(ABCC8):c.413-5G>A SNV Uncertain significance 35613 rs186946111 11:17485156-17485156 11:17463609-17463609
15 ABCC8 NM_000352.5(ABCC8):c.4412-14C>T SNV Uncertain significance 35619 rs193922404 11:17415960-17415960 11:17394413-17394413
16 PDX1 NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) Microsatellite Uncertain significance 36412 rs193922357 13:28498712-28498714 13:27924562-27924563
17 ABCC8 NM_001287174.2(ABCC8):c.2117-12C>A SNV Uncertain significance 35607 rs193922398 11:17448713-17448713 11:17427166-17427166
18 GCK NM_000162.5(GCK):c.45+11C>G SNV Uncertain significance 36219 rs193922298 7:44228497-44228497 7:44188898-44188898
19 ABCC8 NM_000352.6(ABCC8):c.-19A>G SNV Uncertain significance 35602 rs193922394 11:17498342-17498342 11:17476795-17476795
20 ABCC8 NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) SNV Likely benign 35604 rs61748766 11:17464325-17464325 11:17442778-17442778
21 KCNJ11 NM_000525.3(KCNJ11):c.54A>G (p.Ala18=) SNV Likely benign 36432 rs193922564 11:17409585-17409585 11:17388038-17388038
22 KCNJ11 NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) SNV Likely benign 36430 rs41282930 11:17408485-17408485 11:17386938-17386938
23 PDX1 NM_000209.4(PDX1):c.216C>T (p.Pro72=) SNV Likely benign 36405 rs193922353 13:28494491-28494491 13:27920354-27920354
24 TH NM_000207.3(INS):c.-9C>T SNV Benign 36399 rs5505 11:2182210-2182210 11:2160980-2160980
25 INS-IGF2 NM_000207.3(INS):c.188-16C>T SNV Benign 36400 rs5507 11:2181243-2181243 11:2160013-2160013
26 INS-IGF2 NM_000207.3(INS):c.127T>G (p.Cys43Gly) SNV not provided 21114 rs80356666 11:2182075-2182075 11:2160845-2160845
27 INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser) SNV not provided 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
28 ABCC8 NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) SNV not provided 21166 rs80356637 11:17491666-17491666 11:17470119-17470119

Expression for Neonatal Diabetes

Search GEO for disease gene expression data for Neonatal Diabetes.

Pathways for Neonatal Diabetes

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2
Show member pathways
12.68 SLC2A2 PDX1 KCNJ5 KCNJ11 INS GCK
3
Show member pathways
12.12 SLC2A2 KCNJ11 INS ABCC8
4 11.92 SLC2A2 PTF1A PDX1 NEUROG3 NEUROD1 INS
5
Show member pathways
11.89 SLC2A2 PDX1 NEUROD1 INS HNF1B GCK
6
Show member pathways
11.73 KCNJ5 KCNJ11 ABCC8
7
Show member pathways
11.59 SLC2A2 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS
8 11.36 KCNJ5 KCNJ11 ABCC8
9 11.28 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
10
Show member pathways
11.28 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
11 10.68 SLC2A2 INS

GO Terms for Neonatal Diabetes

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.5 ZFP57 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.14 ZFP57 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2 regulation of transcription by RNA polymerase II GO:0006357 10.09 ZFP57 RFX6 PTF1A PLAGL1 PDX1 NEUROG3
3 positive regulation of transcription, DNA-templated GO:0045893 10.03 RFX6 PTF1A PDX1 NEUROG3 NEUROD1 HNF1B
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 RFX6 PTF1A PLAGL1 PDX1 NEUROG3 NEUROD1
5 response to drug GO:0042493 9.89 PDX1 NEUROD1 KCNJ11 HNF1B ABCC8
6 positive regulation of cell differentiation GO:0045597 9.69 NEUROG3 NEUROD1 INS
7 insulin secretion GO:0030073 9.63 PDX1 NEUROD1 HNF1B
8 cellular glucose homeostasis GO:0001678 9.62 GCK ABCC8
9 negative regulation of gluconeogenesis GO:0045721 9.61 INS GCK
10 nitric oxide mediated signal transduction GO:0007263 9.61 PDX1 NEUROD1
11 inorganic cation transmembrane transport GO:0098662 9.59 KCNJ11 ABCC8
12 positive regulation of glycogen biosynthetic process GO:0045725 9.58 INS GCK
13 type B pancreatic cell differentiation GO:0003309 9.58 RFX6 PDX1
14 pancreas development GO:0031016 9.58 PTF1A PDX1 HNF1B
15 transdifferentiation GO:0060290 9.57 PDX1 NEUROG3
16 glucose metabolic process GO:0006006 9.56 PDX1 KCNJ11 INS GCK
17 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.55 PDX1 NEUROD1
18 glucose homeostasis GO:0042593 9.55 RFX6 PDX1 NEUROD1 INS GCK
19 amacrine cell differentiation GO:0035881 9.54 PTF1A NEUROD1
20 exocrine pancreas development GO:0031017 9.52 PTF1A PDX1
21 hindbrain development GO:0030902 9.5 PTF1A NEUROG3 NEUROD1
22 detection of glucose GO:0051594 9.48 PDX1 GCK
23 regulation of insulin secretion GO:0050796 9.43 SLC2A2 RFX6 NEUROD1 KCNJ11 GCK ABCC8
24 endocrine pancreas development GO:0031018 9.1 RFX6 PDX1 NEUROG3 NEUROD1 HNF1B EIF2AK3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 ZFP57 RFX6 PTF1A PLAGL1 PDX1 NEUROG3
2 DNA-binding transcription factor activity GO:0003700 9.85 RFX6 PDX1 NEUROG3 NEUROD1 HNF1B
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.77 RFX6 PTF1A PLAGL1 NEUROG3 NEUROD1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 ZFP57 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.55 ZFP57 RFX6 PTF1A PLAGL1 GLIS3
6 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ5 KCNJ11
7 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 KCNJ11 ABCC8
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.23 RFX6 PTF1A PLAGL1 PDX1 NEUROG3 NEUROD1

Sources for Neonatal Diabetes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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