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NDM
MCID: NNT058
MIFTS: 53

Neonatal Diabetes (NDM)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Neonatal Diabetes

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MalaCards integrated aliases for Neonatal Diabetes:

Name: Neonatal Diabetes 11 14 75 33
Neonatal Diabetes Mellitus 11 58 75 28 53 5 71 31 33
Diabetes Mellitus Syndrome in Newborn Infant 11 33
Ndm 58

Characteristics:


Inheritance:

Neonatal Diabetes Mellitus: Autosomal dominant,Autosomal recessive 58

Prevelance:

Neonatal Diabetes Mellitus: 1-9/100000 (Italy, Germany) 1-9/1000000 (Austria) 58

Age Of Onset:

Neonatal Diabetes Mellitus: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Metabolic diseases Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:11717
ICD9CM 34 775.1
NCIt 49 C99248
SNOMED-CT 68 49817004
ICD10 31 P70.2
ICD10 via Orphanet 32 P70.2
UMLS via Orphanet 72 C0158981
Orphanet 58 ORPHA224
ICD11 33 1217915084
UMLS 71 C0158981
Sources

Summaries for Neonatal Diabetes

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Orphanet: 58 Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.

MalaCards based summary: Neonatal Diabetes, also known as neonatal diabetes mellitus, is related to diabetes mellitus, neonatal, with congenital hypothyroidism and diabetes mellitus, transient neonatal, 1. An important gene associated with Neonatal Diabetes is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Nervous system development and Integration of energy metabolism. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and heart, and related phenotypes are shRNA abundance <= 50% and homeostasis/metabolism

Disease Ontology: 11 A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.

Wikipedia: 75 Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce... more...
Sources

Related Diseases for Neonatal Diabetes

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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 384)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, neonatal, with congenital hypothyroidism 32.8 RFX6 IER3IP1 GLIS3
2 diabetes mellitus, transient neonatal, 1 32.7 ZFP57 PLAGL1 HYMAI
3 diabetes mellitus, permanent neonatal, 1 32.6 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
4 isolated permanent neonatal diabetes mellitus 32.4 PDX1 KCNJ11 INS GCK ABCC8
5 diabetes mellitus, permanent neonatal, 4 32.3 INS-IGF2 INS
6 paternal uniparental disomy of chromosome 6 32.1 PLAGL1 HYMAI
7 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 31.5 RFX6 PTF1A NEUROD1 KCNJ11 INS IER3IP1
8 transient neonatal diabetes mellitus 31.4 ZFP57 TNDM SLC2A2 RFX6 PTF1A PLAGL1
9 monogenic diabetes 31.0 KCNJ11 INS-IGF2 INS GCK ABCC8
10 type 1 diabetes mellitus 30.9 PDX1 NEUROD1 INS GCK
11 hypoglycemia 30.9 SLC2A2 KCNJ5 KCNJ11 INS GCK ABCC8
12 permanent neonatal diabetes mellitus 30.9 ZFP57 SLC2A2 RFX6 PTF1A PLAGL1 PDX1
13 hyperglycemia 30.8 SLC2A2 PDX1 NEUROG3 KCNJ11 INS GCK
14 hyperinsulinemic hypoglycemia, familial, 2 30.8 KCNJ11 INS ABCC8
15 hyperinsulinemic hypoglycemia, familial, 3 30.7 GCK ABCC8
16 hyperinsulinism 30.7 KCNJ5 KCNJ11 INS GCK ABCC8
17 fanconi-bickel syndrome 30.6 SLC2A2 INS ABCC8
18 umbilical hernia 30.4 ZFP57 PLAGL1 KCNJ11 HYMAI ABCC8
19 gestational diabetes 30.3 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
20 gestational trophoblastic neoplasm 30.3 ZFP57 PLAGL1 HYMAI
21 pancreas, annular 30.3 RFX6 PTF1A
22 patent ductus arteriosus 1 30.2 KCNJ11 INS GATA6 ABCC8
23 maturity-onset diabetes of the young, type 13 30.1 RFX6 PDX1 NEUROD1 KCNJ11 GCK ABCC8
24 atrial heart septal defect 30.1 INS GATA6 ABCC8
25 adult syndrome 30.1 PLAGL1 INS-IGF2 INS
26 thiamine-responsive megaloblastic anemia syndrome 30.1 RFX6 IER3IP1 HYMAI GLIS3 ABCC8
27 hyperinsulinemic hypoglycemia 30.1 SLC2A2 PDX1 NEUROD1 KCNJ5 KCNJ11 INS
28 hyperproinsulinemia 30.0 INS-IGF2 INS
29 beckwith-wiedemann syndrome 30.0 ZFP57 PLAGL1 KCNJ11 INS-IGF2 INS HYMAI
30 diarrhea 4, malabsorptive, congenital 30.0 RFX6 NEUROG3
31 wolfram syndrome 1 29.9 KCNJ11 INS HNF1B ABCC8
32 maturity-onset diabetes of the young, type 2 29.9 SLC2A2 RFX6 PDX1 NEUROD1 KCNJ11 INS
33 silver-russell syndrome 1 29.9 ZFP57 PLAGL1 INS-IGF2
34 heart defects, congenital, and other congenital anomalies 29.9 PTF1A PDX1 GATA6
35 prediabetes syndrome 29.9 SLC2A2 KCNJ11 INS HNF1B GCK ABCC8
36 intestinal atresia 29.8 RFX6 PTF1A PDX1 NEUROG3 IER3IP1 GLIS3
37 type 2 diabetes mellitus 29.7 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ5 KCNJ11
38 insulinoma 29.7 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ11 INS
39 renal cysts and diabetes syndrome 29.6 RFX6 PTF1A PDX1 NEUROD1 KCNJ11 HNF1B
40 glucose intolerance 29.6 NEUROG3 NEUROD1 KCNJ11 INS GCK ABCC8
41 diabetes mellitus 29.6 ZFP57 TNDM SLC2A2 RFX6 PTF1A PLAGL1
42 pancreatic agenesis 29.5 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
43 maturity-onset diabetes of the young, type 10 29.5 RFX6 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS
44 maturity-onset diabetes of the young, type 4 29.4 SLC2A2 RFX6 PDX1 NEUROG3 NEUROD1 KCNJ11
45 maturity-onset diabetes of the young 29.1 ZFP57 SLC2A2 RFX6 PTF1A PDX1 NEUROG3
46 maturity-onset diabetes of the young, type 1 28.8 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
47 maturity-onset diabetes of the young, type 3 28.8 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
48 diabetes mellitus, 6q24-related transient neonatal 11.6
49 pancreatic and cerebellar agenesis 11.6
50 diabetes mellitus, permanent neonatal, 2 11.5

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



Diseases related to Neonatal Diabetes
Sources

Symptoms & Phenotypes for Neonatal Diabetes

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 GCK KCNJ11 KCNJ5 NEUROD1 PDX1 RFX6

MGI Mouse Phenotypes related to Neonatal Diabetes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 ABCC8 GATA6 GCK GLIS3 HNF1B IER3IP1
2 growth/size/body region MP:0005378 10.17 ABCC8 GATA6 GCK GLIS3 HNF1B INS
3 no phenotypic analysis MP:0003012 10.03 ABCC8 GLIS3 INS KCNJ11 NEUROG3 PDX1
4 endocrine/exocrine gland MP:0005379 10.03 ABCC8 GCK GLIS3 HNF1B INS KCNJ11
5 liver/biliary system MP:0005370 9.95 GATA6 GCK HNF1B INS PDX1 PTF1A
6 cellular MP:0005384 9.73 GATA6 GCK GLIS3 HNF1B INS NEUROD1
7 digestive/alimentary MP:0005381 9.7 HNF1B INS NEUROD1 NEUROG3 PDX1 PTF1A
8 mortality/aging MP:0010768 9.5 GATA6 GCK GLIS3 HNF1B IER3IP1 INS
Sources

Drugs & Therapeutics for Neonatal Diabetes

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

(show all 15)
# 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 16133228 16186314
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 Analgesics
10 Antipyretics
11 Analgesics, Non-Narcotic
12 Incretins
13 Immunoglobulins
14 Antibodies
15 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 Assessing the Effect of Food Composition on Postprandial Insulin Secretion in KCNJ11 Neonatal Diabetes (FoND Study) Completed NCT02921906 Paracetamol
6 Accurate Diagnosis of Diabetes for Appropriate Management Recruiting NCT03988764
7 NEWBIE Validate: Feasibility of a New Test to Measure Glucose in Newborn Blood Spots (NBS) Not yet recruiting NCT04831723

Search NIH Clinical Center for Neonatal Diabetes

Sources

Genetic Tests for Neonatal Diabetes

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Genetic tests related to Neonatal Diabetes:

# Genetic test Affiliating Genes
1 Neonatal Diabetes Mellitus 28
Sources

Anatomical Context for Neonatal Diabetes

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Organs/tissues related to Neonatal Diabetes:

MalaCards : Pancreas, Pancreatic Islet, Heart, Brain, Smooth Muscle, Skeletal Muscle, Liver
Sources

Publications for Neonatal Diabetes

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Articles related to Neonatal Diabetes:

(show top 50) (show all 1293)
# 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. 53 62 5
17919176 2007
2
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 53 62 5
18025464 2007
3
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 53 62 5
16885549 2006
4
Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population. 62 5
34593315 2021
5
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients. 62 5
32893419 2021
6
Neonatal diabetes mellitus. 62 5
18436707 2008
7
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. 62 5
18025408 2008
8
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 62 5
17446535 2007
9
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. 62 5
17389331 2007
10
17beta-Estradiol modulates apoptosis in pancreatic beta-cells by specific involvement of the sulfonylurea receptor (SUR) isoform SUR1. 5
19095654 2009
11
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. 5
18767144 2009
12
K(ATP) channel pharmacogenomics: from bench to bedside. 5
17957187 2008
13
Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. 53 62
20184447 2010
14
Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. 53 62
20220270 2010
15
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 53 62
19790256 2009
16
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 53 62
19496967 2009
17
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. 53 62
19247925 2009
18
Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. 53 62
19155788 2009
19
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. 53 62
19169493 2008
20
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. 53 62
18981553 2008
21
Diagnosis and treatment of neonatal diabetes: a United States experience. 53 62
18662362 2008
22
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 53 62
18571549 2008
23
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. 53 62
18497752 2008
24
[Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case]. 53 62
18559200 2008
25
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. 53 62
18073297 2008
26
Neonatal hyperglycaemia and abnormal development of the pancreas. 53 62
18279778 2008
27
[Neonatal diabetes: a disease linked to multiple mechanisms]. 53 62
17931842 2007
28
Trafficking of ATP-sensitive potassium channels in health and disease. 53 62
17956278 2007
29
Molecular basis of neonatal diabetes in Japanese patients. 53 62
17635943 2007
30
Permanent neonatal diabetes due to KCNJ11 gene mutation. 53 62
17978456 2007
31
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. 53 62
17659066 2007
32
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 53 62
17317760 2007
33
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. 53 62
17341487 2007
34
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 53 62
17213273 2007
35
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences. 53 62
17923772 2007
36
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. 53 62
16816952 2006
37
ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond. 53 62
16885555 2006
38
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 53 62
16602010 2006
39
Neonatal diabetes mellitus. 53 62
16891687 2006
40
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. 53 62
16615080 2006
41
[The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus]. 53 62
17239309 2006
42
Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes. A first case report. 53 62
16166771 2006
43
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. 53 62
17491708 2006
44
[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. 53 62
16375017 2005
45
Letter Re: Neonatal diabetes mellitus and mutation in the HNF-1beta gene. 53 62
16207896 2005
46
Neonatal diabetes mellitus: Insulin pump as an alternative management strategy. 53 62
16150072 2005
47
Targeting glucokinase activation for the treatment of type 2 diabetes--a status review. 53 62
16159025 2005
48
Neonatal diabetes mellitus: from understudy to center stage. 53 62
16012265 2005
49
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. 53 62
15963039 2005
50
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. 53 62
15910877 2005
Sources

Variations for Neonatal Diabetes

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ClinVar genetic disease variations for Neonatal Diabetes:

5 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) SNV Pathogenic
 8666 rs80356624 GRCh37: 11:17409037-17409037
GRCh38: 11:17387490-17387490
2 KCNJ11 NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) SNV Pathogenic
 8667 rs80356616 GRCh37: 11:17409464-17409464
GRCh38: 11:17387917-17387917
3 KCNJ11 NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) SNV Pathogenic
 8668 rs80356625 GRCh37: 11:17409038-17409038
GRCh38: 11:17387491-17387491
4 KCNJ11 NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) SNV Likely Pathogenic
 8672 rs80356622 GRCh37: 11:17409129-17409129
GRCh38: 11:17387582-17387582
5 ABCC8 NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) SNV Likely Pathogenic
 9102 rs80356637 GRCh37: 11:17491666-17491666
GRCh38: 11:17470119-17470119
6 INS-IGF2, INS NM_000207.3(INS):c.287G>A (p.Cys96Tyr) SNV Likely Pathogenic
 13387 rs80356671 GRCh37: 11:2181128-2181128
GRCh38: 11:2159898-2159898
7 INS-IGF2, INS NM_000207.3(INS):c.143T>G (p.Phe48Cys) SNV Likely Pathogenic
 13389 rs80356668 GRCh37: 11:2182059-2182059
GRCh38: 11:2160829-2160829
8 ABCC8 NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) SNV Likely Pathogenic
 21170 rs1048095 GRCh37: 11:17483278-17483278
GRCh38: 11:17461731-17461731
9 KCNJ11 NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) SNV Likely Pathogenic
 36431 rs80356611 GRCh37: 11:17409490-17409490
GRCh38: 11:17387943-17387943
10 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) SNV Likely Pathogenic
 35609 rs141322087 GRCh37: 11:17426099-17426099
GRCh38: 11:17404552-17404552
11 ABCC8 NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) SNV Likely Pathogenic
 35610 rs193922399 GRCh37: 11:17426074-17426074
GRCh38: 11:17404527-17404527
12 ABCC8 NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) SNV Likely Pathogenic
 35618 rs193922403 GRCh37: 11:17416762-17416762
GRCh38: 11:17395215-17395215
13 INS-IGF2, INS NM_000207.3(INS):c.71C>T (p.Ala24Val) SNV Likely Pathogenic
 36401 rs80356663 GRCh37: 11:2182131-2182131
GRCh38: 11:2160901-2160901
14 ABCC8 NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) SNV Likely Pathogenic
 35621 rs193922406 GRCh37: 11:17415299-17415299
GRCh38: 11:17393752-17393752
15 ABCC8 NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) SNV Likely Pathogenic
 35623 rs193922408 GRCh37: 11:17414669-17414669
GRCh38: 11:17393122-17393122
16 ABCC8 NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) SNV Likely Pathogenic
 555848 rs1554949196 GRCh37: 11:17498179-17498179
GRCh38: 11:17476632-17476632
17 KCNJ11 NM_000525.4(KCNJ11):c.190G>A (p.Val64Met) SNV Likely Pathogenic
 1525998 GRCh37: 11:17409449-17409449
GRCh38: 11:17387902-17387902
18 KCNJ11 NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) SNV Likely Pathogenic
 1525999 GRCh37: 11:17408885-17408885
GRCh38: 11:17387338-17387338
19 KCNJ11 NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val) SNV Likely Pathogenic
 1526000 GRCh37: 11:17408638-17408638
GRCh38: 11:17387091-17387091
20 ABCC8 NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr) SNV Likely Pathogenic
 1526001 GRCh37: 11:17483318-17483318
GRCh38: 11:17461771-17461771
21 ABCC8 NM_000352.6(ABCC8):c.643G>A (p.Val215Ile) SNV Likely Pathogenic
 1526002 GRCh37: 11:17483309-17483309
GRCh38: 11:17461762-17461762
22 ABCC8 NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu) SNV Likely Pathogenic
 1526003 GRCh37: 11:17464289-17464289
GRCh38: 11:17442742-17442742
23 KCNJ11 NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) SNV Likely Pathogenic
 36433 rs193922565 GRCh37: 11:17409634-17409634
GRCh38: 11:17388087-17388087
24 ABCC8 NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) SNV Likely Pathogenic
 35615 rs193922401 GRCh37: 11:17417461-17417461
GRCh38: 11:17395914-17395914
25 ABCC8 NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) SNV Likely Pathogenic
 35605 rs193922396 GRCh37: 11:17464291-17464291
GRCh38: 11:17442744-17442744
26 ABCC8 NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) SNV Likely Pathogenic
 35622 rs193922407 GRCh37: 11:17415288-17415288
GRCh38: 11:17393741-17393741
27 KCNJ11 NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) SNV Likely Pathogenic
 158682 rs587783672 GRCh37: 11:17408960-17408960
GRCh38: 11:17387413-17387413
28 ABCC8 NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) SNV Likely Pathogenic
 434047 rs1554909277 GRCh37: 11:17424265-17424265
GRCh38: 11:17402718-17402718
29 ABCC8 NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) SNV Likely Pathogenic
 210076 rs797045209 GRCh37: 11:17426072-17426072
GRCh38: 11:17404525-17404525
30 ABCC8 NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) SNV Likely Pathogenic
 35606 rs193922397 GRCh37: 11:17464281-17464281
GRCh38: 11:17442734-17442734
31 INS-IGF2, INS NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV Likely Pathogenic
 21117 rs80356669 GRCh37: 11:2181150-2181150
GRCh38: 11:2159920-2159920
32 ABCC8 NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) SNV Likely Pathogenic
 35611 rs193922400 GRCh37: 11:17426071-17426071
GRCh38: 11:17404524-17404524
33 INS-IGF2, INS NM_000207.3(INS):c.103C>A (p.Leu35Met) SNV Likely Pathogenic
 1526013 GRCh37: 11:2182099-2182099
GRCh38: 11:2160869-2160869
34 INS-IGF2, INS NM_000207.3(INS):c.101A>C (p.His34Pro) SNV Likely Pathogenic
 1526012 GRCh37: 11:2182101-2182101
GRCh38: 11:2160871-2160871
35 INS-IGF2, INS NM_000207.3(INS):c.326G>T (p.Cys109Phe) SNV Likely Pathogenic
 1526011 GRCh37: 11:2181089-2181089
GRCh38: 11:2159859-2159859
36 INS-IGF2, INS NM_000207.3(INS):c.322T>G (p.Tyr108Asp) SNV Likely Pathogenic
 1526010 GRCh37: 11:2181093-2181093
GRCh38: 11:2159863-2159863
37 INS-IGF2, INS NM_000207.3(INS):c.293G>T (p.Ser98Ile) SNV Likely Pathogenic
 1526009 GRCh37: 11:2181122-2181122
GRCh38: 11:2159892-2159892
38 ABCC8 NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg) SNV Likely Pathogenic
 1526007 GRCh37: 11:17414674-17414674
GRCh38: 11:17393127-17393127
39 ABCC8 NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr) SNV Likely Pathogenic
 1526006 GRCh37: 11:17417200-17417200
GRCh38: 11:17395653-17395653
40 ABCC8 NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) SNV Likely Pathogenic
 1526005 GRCh37: 11:17419310-17419310
GRCh38: 11:17397763-17397763
41 INS-IGF2, INS NM_000207.3(INS):c.94G>A (p.Gly32Ser) SNV Likely Pathogenic
 21122 rs80356664 GRCh37: 11:2182108-2182108
GRCh38: 11:2160878-2160878
42 ABCC8 NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys) SNV Uncertain Significance
 1526004 GRCh37: 11:17428623-17428623
GRCh38: 11:17407076-17407076
43 ABCC8 NM_000352.6(ABCC8):c.413-5G>A SNV Uncertain Significance
 35613 rs186946111 GRCh37: 11:17485156-17485156
GRCh38: 11:17463609-17463609
44 PDX1 NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) MICROSAT Uncertain Significance
 36412 rs193922357 GRCh37: 13:28498712-28498714
GRCh38: 13:27924562-27924563
45 ABCC8 NM_000352.6(ABCC8):c.-19A>G SNV Uncertain Significance
 35602 rs193922394 GRCh37: 11:17498342-17498342
GRCh38: 11:17476795-17476795
46 ABCC8 NM_000352.6(ABCC8):c.2117-12C>A SNV Uncertain Significance
 35607 rs193922398 GRCh37: 11:17448713-17448713
GRCh38: 11:17427166-17427166
47 GCK NM_000162.5(GCK):c.45+11C>G SNV Uncertain Significance
 36219 rs193922298 GRCh37: 7:44228497-44228497
GRCh38: 7:44188898-44188898
48 ABCC8 NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) SNV Uncertain Significance
 551343 rs764349043 GRCh37: 11:17496515-17496515
GRCh38: 11:17474968-17474968
49 ABCC8 NM_000352.6(ABCC8):c.4412-14C>T SNV Uncertain Significance
 35619 rs193922404 GRCh37: 11:17415960-17415960
GRCh38: 11:17394413-17394413
50 PDX1 NM_000209.4(PDX1):c.216C>T (p.Pro72=) SNV Likely Benign
 36405 rs193922353 GRCh37: 13:28494491-28494491
GRCh38: 13:27920354-27920354
Sources

Expression for Neonatal Diabetes

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

Pathways for Neonatal Diabetes

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Pathways directly related to Neonatal Diabetes:

# Pathway Source
1 Defective ABCC8 can cause hypo- and hyper-glycemias Reactome 66

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Nervous system development 66
Show member pathways
 13.47 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2
Integration of energy metabolism 66
Show member pathways
 12.28 SLC2A2 KCNJ11 INS ABCC8
3
Disorders of transmembrane transporters 66
Show member pathways
 12.23 SLC2A2 KCNJ11 GCK ABCC8
4
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.92 SLC2A2 PTF1A PDX1 NEUROG3 NEUROD1 INS
5
Hepatic ABC Transporters 64
Show member pathways
 11.89 GCK HNF1B INS NEUROD1 PDX1 SLC2A2
6
Inwardly rectifying K+ channels 66
Show member pathways
 11.84 KCNJ5 KCNJ11 ABCC8
7
Antiarrhythmic Pathway, Pharmacodynamics 60
11.35 KCNJ5 KCNJ11 ABCC8
8
FOXA2 and FOXA3 transcription factor networks 61
Show member pathways
 11.27 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
9
Notch-mediated HES/HEY network 61
11.23 PTF1A NEUROG3 GATA6
10
Regulation of beta-cell development 66
Show member pathways
 11.23 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
11
Type II diabetes mellitus 74
11.01 SLC2A2 PDX1 KCNJ11 INS-IGF2
12
Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics 60
11 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF1B
13
Cori cycle 74
10.75 SLC2A2 INS
Sources

GO Terms for Neonatal Diabetes

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.92 KCNJ11 ABCC8

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.5 GATA6 GLIS3 HNF1B NEUROD1 NEUROG3 PDX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.42 GATA6 GLIS3 HNF1B NEUROD1 NEUROG3 PDX1
3 positive regulation of DNA-templated transcription GO:0045893 10.36 GATA6 HNF1B NEUROD1 NEUROG3 PDX1 PTF1A
4 regulation of DNA-templated transcription GO:0006355 10.27 ZFP57 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
5 response to xenobiotic stimulus GO:0009410 10.21 ABCC8 GATA6 HNF1B KCNJ11 NEUROD1 PDX1
6 glucose homeostasis GO:0042593 10.07 GCK INS NEUROD1 PDX1 RFX6
7 glucose metabolic process GO:0006006 10.06 PDX1 KCNJ11 INS GCK
8 response to glucose GO:0009749 10.02 PDX1 NEUROD1 HNF1B
9 potassium ion import across plasma membrane GO:1990573 10.02 KCNJ5 KCNJ11 ABCC8
10 regulation of insulin secretion GO:0050796 10.01 RFX6 NEUROD1 KCNJ11 GCK
11 positive regulation of cell differentiation GO:0045597 10 NEUROG3 NEUROD1 INS
12 insulin secretion GO:0030073 9.99 PDX1 NEUROD1 HNF1B
13 cell fate commitment GO:0045165 9.92 PTF1A NEUROD1 GATA6
14 amacrine cell differentiation GO:0035881 9.91 PTF1A NEUROD1
15 exocrine pancreas development GO:0031017 9.9 PTF1A PDX1
16 pancreatic A cell differentiation GO:0003310 9.89 RFX6 GATA6
17 transdifferentiation GO:0060290 9.87 NEUROG3 PDX1
18 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.86 NEUROD1 PDX1
19 type B pancreatic cell differentiation GO:0003309 9.8 RFX6 PDX1 GATA6
20 detection of glucose GO:0051594 9.78 PDX1 GCK
21 pancreas development GO:0031016 9.73 PTF1A PDX1 HNF1B GATA6
22 enteroendocrine cell differentiation GO:0035883 9.71 PDX1 NEUROD1
23 endocrine pancreas development GO:0031018 9.7 RFX6 PDX1 NEUROG3 NEUROD1
24 hindbrain development GO:0030902 9.43 PTF1A NEUROG3 NEUROD1 HNF1B
25 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.17 SLC2A2 RFX6 PDX1 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 GATA6 GLIS3 HNF1B NEUROD1 NEUROG3 PDX1
2 DNA-binding transcription factor activity GO:0003700 10.1 RFX6 PDX1 NEUROG3 NEUROD1 HNF1B GATA6
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.1 GLIS3 NEUROD1 NEUROG3 PLAGL1 PTF1A RFX6
4 RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0000977 10.09 ZFP57 RFX6 PTF1A PLAGL1 GLIS3
5 DNA binding GO:0003677 9.93 GATA6 GLIS3 HNF1B NEUROD1 NEUROG3 PDX1
6 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.89 RFX6 PTF1A PLAGL1 PDX1 NEUROG3 NEUROD1
7 ATP-activated inward rectifier potassium channel activity GO:0015272 9.67 KCNJ11 ABCC8
8 sequence-specific DNA binding GO:0043565 9.17 PTF1A PDX1 NEUROD1 HNF1B GLIS3 GATA6
Sources

Sources for Neonatal Diabetes

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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