PNDM1
MCID: DBT100
MIFTS: 59

Diabetes Mellitus, Permanent Neonatal 1 (PNDM1)

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal 1

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal 1:

Name: Diabetes Mellitus, Permanent Neonatal 1 56
Permanent Neonatal Diabetes Mellitus 58 36 29 6
Diabetes Mellitus, Permanent Neonatal 73 13
Dend Syndrome 58 6
Pdmi 56 73
Pndm 58 73
Diabetes Mellitus Permanent Neonatal with Neurologic Features 73
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 58
Developmental Delay Epilepsy and Neonatal Diabetes 73
Diabetes Mellitus, Permanent, of Infancy; Pdmi 56
Diabetes Mellitus, Permanent, of Infancy 56
Permanent Diabetes Mellitus of Infancy 73
Monogenic Diabetes of Infancy 58
Pndm1 56
Dend 73

Characteristics:

Orphanet epidemiological data:

58
dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
permanent neonatal diabetes mellitus
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Poland),1-9/1000000 (Netherlands),1-9/1000000 (Slovakia),1-9/1000000 (United States); Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
diagnosis within the first 3 months of life
based on reports of 2 patients


HPO:

31
diabetes mellitus, permanent neonatal 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Diabetes Mellitus, Permanent Neonatal 1

KEGG : 36 Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal 1, also known as permanent neonatal diabetes mellitus, is related to epiphyseal dysplasia, multiple, with early-onset diabetes mellitus and pancreatic agenesis, and has symptoms including seizures and muscle weakness. An important gene associated with Diabetes Mellitus, Permanent Neonatal 1 is GCK (Glucokinase), and among its related pathways/superpathways are Insulin signaling pathway and Developmental Biology. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include heart, pancreas and kidney, and related phenotypes are hyperglycemia and failure to thrive

OMIM : 56 Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well (Njolstad et al., 2001). PNDM is distinct from transient neonatal diabetes mellitus (TNDM; see 601410) and childhood-onset autoimmune diabetes mellitus type I (IDDM; 222100). (606176)

UniProtKB/Swiss-Prot : 73 Diabetes mellitus, permanent neonatal: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.

Related Diseases for Diabetes Mellitus, Permanent Neonatal 1

Diseases in the Diabetes Mellitus, Permanent Neonatal 1 family:

Diabetes Mellitus, Permanent Neonatal 2 Diabetes Mellitus, Permanent Neonatal 3
Diabetes Mellitus, Permanent Neonatal 4

Diseases related to Diabetes Mellitus, Permanent Neonatal 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.2 KCNJ11 INS ABCC8
2 pancreatic agenesis 30.6 PDX1 KCNJ11 INS GCK ABCC8
3 diabetes mellitus, permanent neonatal 4 29.8 PDX1 KCNJ11 INS GCK ABCC8
4 diabetes mellitus, ketosis-prone 29.7 KCNJ11 INS ABCC8
5 hypoglycemia 29.4 KCNJ11 INS GCK ABCC8
6 gestational diabetes 28.9 KCNJ11 INS GCK ABCC8
7 glucose intolerance 28.8 KCNJ11 INS GCK ABCC8
8 diabetes mellitus, type i 28.7 PDX1 INS GCK
9 hyperglycemia 28.7 PDX1 KCNJ11 INS GCK ABCC8
10 maturity-onset diabetes of the young 28.5 PDX1 KCNJ11 INS GCK ABCC8
11 neonatal diabetes mellitus 28.4 PDX1 KCNJ11 INS GCK ABCC8
12 maturity-onset diabetes of the young, type 4 28.2 PDX1 KCNJ11 INS GCK ABCC8
13 monogenic diabetes 28.2 PDX1 KCNJ11 INS GCK ABCC8
14 maturity-onset diabetes of the young, type 2 28.0 PDX1 KCNJ11 INS GCK ABCC8
15 transient neonatal diabetes mellitus 28.0 PDX1 KCNJ11 INS GCK ABCC8
16 diabetes mellitus 27.9 STAT3 PDX1 KCNJ11 INS GCK ABCC8
17 diabetes mellitus, noninsulin-dependent 27.3 STAT3 PDX1 KCNJ11 INS GCK ABCC8
18 pancreatic and cerebellar agenesis 11.9
19 diabetes mellitus, transient neonatal, 1 11.2
20 diabetes mellitus, permanent neonatal 2 11.2
21 diabetes mellitus, permanent neonatal 3 11.2
22 epilepsy 10.2
23 autosomal recessive disease 10.1
24 exocrine pancreatic insufficiency 10.1
25 hypothyroidism 10.1
26 west syndrome 10.1
27 aspiration pneumonia 10.1
28 visual epilepsy 10.1
29 encephalopathy 10.1
30 seizure disorder 10.1
31 hyperinsulinemic hypoglycemia, familial, 6 10.1 GCK ABCC8
32 diabetes mellitus, transient neonatal, 3 10.0
33 diabetic neuropathy 10.0
34 hypotonia 10.0
35 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
36 hypertriglyceridemia, familial 10.0
37 macroglossia 10.0
38 pancreas, annular 10.0
39 pancreas, dorsal, agenesis of 10.0
40 duodenal atresia 10.0
41 pancreatic agenesis 1 10.0
42 retinitis pigmentosa 10.0
43 branchiootic syndrome 1 10.0
44 metabolic acidosis 10.0
45 cerebellar hypoplasia 10.0
46 neuroretinitis 10.0
47 diarrhea 10.0
48 methylmalonic acidemia 10.0
49 bilirubin metabolic disorder 10.0
50 retinitis 10.0

Graphical network of the top 20 diseases related to Diabetes Mellitus, Permanent Neonatal 1:



Diseases related to Diabetes Mellitus, Permanent Neonatal 1

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal 1

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal 1:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperglycemia 58 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0003074
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 dehydration 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001944
4 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
5 reduced pancreatic beta cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0006274
6 glycosuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003076
7 neonatal insulin-dependent diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000857
8 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
9 elevated hemoglobin a1c 58 31 hallmark (90%) Very frequent (99-80%) HP:0040217
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
12 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
13 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
14 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
15 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002714
16 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
17 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0005487
18 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
19 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
20 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
21 ketonuria 58 31 frequent (33%) Frequent (79-30%) HP:0002919
22 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001488
23 contractures of the joints of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0005750
24 microalbuminuria 58 31 frequent (33%) Frequent (79-30%) HP:0012594
25 seizure 31 frequent (33%) HP:0001250
26 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
27 generalized myoclonic seizure 31 frequent (33%) HP:0002123
28 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
29 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
30 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
31 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
32 renal tubular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000124
33 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
34 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
35 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
36 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
37 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
38 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
39 pancreatic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002594
40 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
41 thickened ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0009894
42 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
43 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
44 clinodactyly of the 4th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0040025
45 intellectual disability 58 Frequent (79-30%)
46 seizures 58 Frequent (79-30%)
47 generalized myoclonic seizures 58 Frequent (79-30%)
48 ptosis 31 HP:0000508
49 neurodevelopmental delay 58 Frequent (79-30%)
50 diabetes mellitus 31 HP:0000819

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
intrauterine growth retardation

Endocrine Features:
diabetes mellitus

Growth Weight:
low birth weight

Neurologic Central Nervous System:
motor delay
developmental delay

Laboratory Abnormalities:
hyperglycemia
ketoacidosis

Clinical features from OMIM:

606176

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal 1:


seizures, muscle weakness

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 ABCC8 GCK INS KCNJ11 PDX1 STAT3
2 homeostasis/metabolism MP:0005376 9.8 ABCC8 GCK INS KCNJ11 PDX1 STAT3
3 liver/biliary system MP:0005370 9.56 GCK INS PDX1 STAT3
4 muscle MP:0005369 9.46 INS KCNJ11 PDX1 STAT3
5 no phenotypic analysis MP:0003012 9.26 ABCC8 INS KCNJ11 PDX1
6 renal/urinary system MP:0005367 8.92 GCK INS PDX1 STAT3

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal 1

Drugs for Diabetes Mellitus, Permanent Neonatal 1 (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 Insulin, Globin Zinc Phase 4
4 Hypoglycemic Agents Phase 4
5 insulin Phase 4
6 Glucagon-Like Peptide 1 Phase 4
7 Acidophilus Phase 1
8
Adenosine Approved, Investigational 58-61-7 60961
9 Immunoglobulins
10 Antibodies
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 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 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
4 Study Evaluating the Optimal Dosage for Equivalence Between a Tablet and Capsule Dosage Form of an Intravaginal Treatment With Total Freeze-dried Culture of Lcr Regenerans® (Lactobacillus Rhamnosus Lcr35®) on Vaginal Flora Colonisation in Healthy Women. Completed NCT02730494 Phase 1
5 A Prospective Study of Sulfonylureas in Patients With Diabetes Due to Kir6.2 Mutations Completed NCT00334711 Sulfonylurea
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 Diabetes Mellitus, Permanent Neonatal 1

Genetic Tests for Diabetes Mellitus, Permanent Neonatal 1

Genetic tests related to Diabetes Mellitus, Permanent Neonatal 1:

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 29 ABCC8 GCK INS KCNJ11 PDX1

Anatomical Context for Diabetes Mellitus, Permanent Neonatal 1

MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal 1:

40
Heart, Pancreas, Kidney, Eye, Pancreatic Islet, Neutrophil

Publications for Diabetes Mellitus, Permanent Neonatal 1

Articles related to Diabetes Mellitus, Permanent Neonatal 1:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Neonatal diabetes mellitus due to complete glucokinase deficiency. 6 56
11372010 2001
2
Permanent Neonatal Diabetes Mellitus 61 6
20301620 2008
3
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 6 61
15580558 2005
4
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 6 61
15583126 2004
5
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. 6
16670688 2006
6
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. 6
16205880 2005
7
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. 6
15292329 2004
8
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 6
15115830 2004
9
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 6
12524280 2003
10
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. 56
11942315 2002
11
Neonatal diabetes: new insights into aetiology and implications. 56
10895036 2000
12
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 6
9049484 1997
13
Proteome profile of neutrophils from a transgenic diabetic pig model shows distinct changes. 61
32470542 2020
14
Recent clinical advances of glucokinase activators in the treatment of diabetes mellitus type 2. 61
32539915 2020
15
Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population. 61
31605659 2020
16
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China. 61
32279225 2020
17
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction. 61
31882561 2020
18
Postnatal growth of Infants with neonatal diabetes: insulin pump (CSII) versus Multiple Daily Injection (MDI) therapy. 61
31544804 2019
19
Association of a homozygous GCK missense mutation with mild diabetes. 61
31197960 2019
20
A novel mutation in INS gene linked to permanent neonatal diabetes mellitus. 61
30915639 2019
21
Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways. 61
31908791 2019
22
Monogenic Forms of Diabetes Mellitus. 61
31588541 2019
23
β Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus. 61
30503261 2018
24
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11. 61
30286572 2018
25
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. 61
29521454 2018
26
A novel high-affinity inhibitor against the human ATP-sensitive Kir6.2 channel. 61
29844136 2018
27
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes. 61
28843469 2018
28
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. 61
29504184 2018
29
Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control. 61
29278452 2018
30
Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program. 61
28436179 2018
31
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. 61
28371426 2018
32
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. 61
29044608 2018
33
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. 61
29317564 2017
34
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 61
29048742 2017
35
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes. 61
27555491 2017
36
IER3IP1 deficiency leads to increased β-cell death and decreased β-cell proliferation. 61
28915629 2017
37
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea. 61
28480665 2017
38
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome. 61
28652565 2017
39
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. 61
28955442 2017
40
Neonatal Diabetes: A Case Series. 61
27889714 2017
41
Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes. 61
27802092 2017
42
Genetic Factors of Diabetes. 61
28083605 2016
43
Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation. 61
27849623 2016
44
Permanent Neonatal Diabetes (DEND Syndrome). 61
28666500 2016
45
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. 61
27617158 2016
46
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis. 61
26831749 2016
47
Development and stability study of glibenclamide oral liquid paediatric formulations for the treatment of permanent neonatal diabetes mellitus. 61
31156851 2016
48
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. 61
25977574 2016
49
[Permanent neonatal diabetes mellitus in a young Ukrainian child]. 61
28633163 2016
50
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa. 61
26958039 2015

Variations for Diabetes Mellitus, Permanent Neonatal 1

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal 1:

6 (show top 50) (show all 314) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INS NM_000207.2(INS):c.(?_-191)_(187_?)+1deldeletion Pathogenic 431440 11:2182014-2182571 11:2160784-2161341
2 INS NM_000207.3(INS):c.-39A>CSNV Pathogenic 431444 rs1554921033 11:2182419-2182419 11:2161189-2161189
3 INS NM_000207.2(INS):c.-152C>GSNV Pathogenic 431443 rs748749585 11:2182532-2182532 11:2161302-2161302
4 INS NM_000207.2(INS):c.-152C>ASNV Pathogenic 431442 rs748749585 11:2182532-2182532 11:2161302-2161302
5 INS NM_000207.2(INS):c.-187_-164deldeletion Pathogenic 431441 rs1135401727 11:2182544-2182567 11:2161314-2161337
6 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser)SNV Pathogenic 435306 rs1360415315 7:44189371-44189371 7:44149772-44149772
7 ABCC8 NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)SNV Pathogenic 434047 rs1554909277 11:17424265-17424265 11:17402718-17402718
8 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
9 KCNJ11 NM_000525.3(KCNJ11):c.368dup (p.Ser124fs)duplication Pathogenic 522957 rs1554901822 11:17409270-17409271 11:17387723-17387724
10 KCNJ11 NM_000525.3(KCNJ11):c.602G>A (p.Arg201His)SNV Pathogenic 8666 rs80356624 11:17409037-17409037 11:17387490-17387490
11 KCNJ11 NM_000525.3(KCNJ11):c.175G>A (p.Val59Met)SNV Pathogenic 8667 rs80356616 11:17409464-17409464 11:17387917-17387917
12 KCNJ11 NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys)SNV Pathogenic 8668 rs80356625 11:17409038-17409038 11:17387491-17387491
13 KCNJ11 NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly)SNV Pathogenic 8669 rs80356617 11:17409463-17409463 11:17387916-17387916
14 KCNJ11 NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro)SNV Pathogenic 8670 rs80356611 11:17409490-17409490 11:17387943-17387943
15 KCNJ11 NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg)SNV Pathogenic 8671 rs80356621 11:17409130-17409130 11:17387583-17387583
16 KCNJ11 NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn)SNV Pathogenic 8672 rs80356622 11:17409129-17409129 11:17387582-17387582
17 KCNJ11 NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg)SNV Pathogenic 8676 rs80356610 11:17409515-17409515 11:17387968-17387968
18 KCNJ11 NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)SNV Pathogenic 8679 rs80356618 11:17409142-17409142 11:17387595-17387595
19 KCNJ11 NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu)SNV Pathogenic 8680 rs80356620 11:17409140-17409140 11:17387593-17387593
20 GCK NM_000162.5(GCK):c.790G>A (p.Gly264Ser)SNV Pathogenic 21078 rs193929373 7:44187322-44187322 7:44147723-44147723
21 INS NM_000207.3(INS):c.127T>G (p.Cys43Gly)SNV Pathogenic 21114 rs80356666 11:2182075-2182075 11:2160845-2160845
22 INS NM_000207.3(INS):c.140G>T (p.Gly47Val)SNV Pathogenic 21115 rs80356667 11:2182062-2182062 11:2160832-2160832
23 INS NM_000207.3(INS):c.265C>T (p.Arg89Cys)SNV Pathogenic 21117 rs80356669 11:2181150-2181150 11:2159920-2159920
24 INS NM_000207.3(INS):c.268G>T (p.Gly90Cys)SNV Pathogenic 21118 rs80356670 11:2181147-2181147 11:2159917-2159917
25 INS NM_000207.3(INS):c.323A>G (p.Tyr108Cys)SNV Pathogenic 21120 rs80356672 11:2181092-2181092 11:2159862-2159862
26 INS , INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser)SNV Pathogenic 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
27 INS NM_000207.3(INS):c.94G>C (p.Gly32Arg)SNV Pathogenic 21123 rs80356664 11:2182108-2182108 11:2160878-2160878
28 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs)deletion Pathogenic 21124 rs193929377 13:28494458-28494458 13:27920321-27920321
29 ABCC8 NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)SNV Pathogenic 21165 rs193929360 11:17496466-17496466 11:17474919-17474919
30 ABCC8 NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)SNV Pathogenic 21166 rs80356637 11:17491666-17491666 11:17470119-17470119
31 ABCC8 NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro)SNV Pathogenic 21167 rs193929364 11:17491656-17491656 11:17470109-17470109
32 ABCC8 NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu)SNV Pathogenic 21168 rs80356640 11:17483325-17483325 11:17461778-17461778
33 ABCC8 NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)SNV Pathogenic 21169 rs193929366 11:17483321-17483321 11:17461774-17461774
34 ABCC8 NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)SNV Pathogenic 21170 rs1048095 11:17483278-17483278 11:17461731-17461731
35 KCNJ11 NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp)SNV Pathogenic 21193 rs193929358 11:17408638-17408638 11:17387091-17387091
36 KCNJ11 NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu)SNV Pathogenic 21194 rs193929333 11:17409536-17409536 11:17387989-17387989
37 KCNJ11 NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val)SNV Pathogenic 21195 rs193929333 11:17409536-17409536 11:17387989-17387989
38 KCNJ11 NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg)SNV Pathogenic 21196 rs193929337 11:17409484-17409484 11:17387937-17387937
39 KCNJ11 NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr)SNV Pathogenic 21197 rs80356618 11:17409142-17409142 11:17387595-17387595
40 KCNJ11 NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)SNV Pathogenic 21198 rs193929348 11:17409095-17409095 11:17387548-17387548
41 KCNJ11 NM_000525.3(KCNJ11):c.602G>T (p.Arg201Leu)SNV Pathogenic 21199 rs80356624 11:17409037-17409037 11:17387490-17387490
42 KCNJ11 NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala)SNV Pathogenic 21200 rs193929352 11:17408884-17408884 11:17387337-17387337
43 KCNJ11 NM_000525.3(KCNJ11):c.886A>C (p.Ile296Leu)SNV Pathogenic 21201 rs193929353 11:17408753-17408753 11:17387206-17387206
44 KCNJ11 NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val)SNV Pathogenic 21202 rs193929353 11:17408753-17408753 11:17387206-17387206
45 KCNJ11 NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys)SNV Pathogenic 21203 rs193929355 11:17408675-17408675 11:17387128-17387128
46 KCNJ11 NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys)SNV Pathogenic 21204 rs193929356 11:17408650-17408650 11:17387103-17387103
47 KCNJ11 NM_000525.3(KCNJ11):c.997T>A (p.Phe333Ile)SNV Pathogenic 21205 rs193929357 11:17408642-17408642 11:17387095-17387095
48 PDX1 NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)SNV Pathogenic 30124 rs387906777 13:28498519-28498519 13:27924382-27924382
49 ABCC8 NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)SNV Pathogenic 9102 rs80356637 11:17491666-17491666 11:17470119-17470119
50 ABCC8 NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)SNV Pathogenic 9103 rs80356642 11:17483314-17483314 11:17461767-17461767

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal 1:

73 (show top 50) (show all 74)
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Phe132Leu VAR_029778 rs80356637
2 ABCC8 p.Leu213Arg VAR_029779 rs80356642
3 ABCC8 p.Ile1424Val VAR_029787 rs80356653
4 ABCC8 p.Val86Ala VAR_031354 rs193929360
5 ABCC8 p.Gly1400Arg VAR_031380 rs137852676
6 ABCC8 p.Pro45Leu VAR_072928 rs267606623
7 ABCC8 p.Asn72Ser VAR_072929 rs80356634
8 ABCC8 p.Val86Gly VAR_072930 rs193929360
9 ABCC8 p.Phe132Val VAR_072931 rs80356637
10 ABCC8 p.Pro207Ser VAR_072932
11 ABCC8 p.Glu208Lys VAR_072933
12 ABCC8 p.Asp209Glu VAR_072934 rs80356640
13 ABCC8 p.Gln211Lys VAR_072935 rs193929366
14 ABCC8 p.Leu225Pro VAR_072936 rs1048095
15 ABCC8 p.Thr229Ile VAR_072937 rs768017509
16 ABCC8 p.Tyr263Asp VAR_072938 rs778892038
17 ABCC8 p.Glu382Lys VAR_072939 rs80356651
18 ABCC8 p.Ala1184Glu VAR_072944 rs137852675
19 ABCC8 p.Glu1326Lys VAR_072945 rs200563930
20 ABCC8 p.Val1522Leu VAR_072953
21 GCK p.Thr228Met VAR_003705 rs80356655
22 GCK p.Gly261Arg VAR_003708 rs104894008
23 GCK p.Leu164Pro VAR_012350
24 GCK p.Met210Lys VAR_012351 rs80356654
25 GCK p.Glu40Lys VAR_079433 rs794727236
26 GCK p.Arg43Cys VAR_079434 rs148628002
27 GCK p.His50Asp VAR_079437
28 GCK p.Gly72Arg VAR_079440 rs193922289
29 GCK p.Ser151Thr VAR_079446
30 GCK p.Thr168Ala VAR_079448
31 GCK p.Lys169Arg VAR_079449
32 GCK p.Met393Thr VAR_079469
33 GCK p.Arg397Leu VAR_079470 rs193929375
34 GCK p.Ser441Leu VAR_079475 rs128680419
35 GCK p.Ala449Thr VAR_079476 rs193922282
36 INS p.Ala24Asp VAR_063723 rs80356663
37 INS p.His29Asp VAR_063724 rs121908272
38 INS p.Gly32Arg VAR_063725 rs80356664
39 INS p.Gly32Ser VAR_063726 rs80356664
40 INS p.Leu35Pro VAR_063727 rs121908273
41 INS p.Cys43Gly VAR_063728 rs80356666
42 INS p.Gly47Val VAR_063730 rs80356667
43 INS p.Phe48Cys VAR_063731 rs80356668
44 INS p.Arg89Cys VAR_063735 rs80356669
45 INS p.Gly90Cys VAR_063736 rs80356670
46 INS p.Cys96Ser VAR_063737 rs80356671
47 INS p.Cys96Tyr VAR_063738 rs80356671
48 INS p.Ser101Cys VAR_063739 rs121908276
49 INS p.Tyr103Cys VAR_063740 rs121908277
50 INS p.Tyr108Cys VAR_063741 rs80356672

Expression for Diabetes Mellitus, Permanent Neonatal 1

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal 1.

Pathways for Diabetes Mellitus, Permanent Neonatal 1

Pathways related to Diabetes Mellitus, Permanent Neonatal 1 according to KEGG:

36
# Name Kegg Source Accession
1 Insulin signaling pathway hsa04910

Pathways related to Diabetes Mellitus, Permanent Neonatal 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 STAT3 PDX1 INS GCK
2
Show member pathways
12.5 STAT3 INS GCK
3
Show member pathways
12.32 PDX1 KCNJ11 INS GCK ABCC8
4
Show member pathways
12.06 STAT3 INS GCK
5
Show member pathways
11.94 KCNJ11 INS ABCC8
6 11.67 STAT3 PDX1 INS
7
Show member pathways
11.59 PDX1 INS GCK
8
Show member pathways
11.43 PDX1 INS GCK
9 11.34 STAT3 INS
10
Show member pathways
11.34 PDX1 KCNJ11 INS GCK ABCC8
11 11.26 KCNJ11 ABCC8
12 11.21 KCNJ11 ABCC8
13 11.18 STAT3 INS
14
Show member pathways
11.08 STAT3 INS
15 10.66 PDX1 KCNJ11 INS GCK ABCC8

GO Terms for Diabetes Mellitus, Permanent Neonatal 1

Cellular components related to Diabetes Mellitus, Permanent Neonatal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 STAT3 KCNJ11 GCK ABCC8
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Diabetes Mellitus, Permanent Neonatal 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.72 STAT3 PDX1 INS
2 response to drug GO:0042493 9.56 STAT3 PDX1 KCNJ11 ABCC8
3 response to cytokine GO:0034097 9.54 STAT3 PDX1
4 positive regulation of insulin secretion GO:0032024 9.52 PDX1 GCK
5 acute-phase response GO:0006953 9.51 STAT3 INS
6 regulation of insulin secretion GO:0050796 9.5 KCNJ11 GCK ABCC8
7 negative regulation of insulin secretion GO:0046676 9.49 KCNJ11 ABCC8
8 cellular glucose homeostasis GO:0001678 9.48 GCK ABCC8
9 negative regulation of gluconeogenesis GO:0045721 9.46 INS GCK
10 positive regulation of glycogen biosynthetic process GO:0045725 9.43 INS GCK
11 cellular response to leptin stimulus GO:0044320 9.4 STAT3 GCK
12 inorganic cation transmembrane transport GO:0098662 9.37 KCNJ11 ABCC8
13 glucose homeostasis GO:0042593 9.26 STAT3 PDX1 INS GCK
14 detection of glucose GO:0051594 9.16 PDX1 GCK
15 glucose metabolic process GO:0006006 8.92 PDX1 KCNJ11 INS GCK

Molecular functions related to Diabetes Mellitus, Permanent Neonatal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 8.96 KCNJ11 ABCC8
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

Sources for Diabetes Mellitus, Permanent Neonatal 1

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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