PDMI
MCID: PRM030
MIFTS: 51

Permanent Neonatal Diabetes Mellitus (PDMI)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

MalaCards integrated aliases for Permanent Neonatal Diabetes Mellitus:

Name: Permanent Neonatal Diabetes Mellitus 11 24 19 42 28 5 14
Pndm 11 19 42
Permanent Diabetes Mellitus of Infancy 11 19
Neonatal Diabetes Mellitus, Permanent 75
Pdmi 11

Characteristics:


GeneReviews:

24
Penetrance Reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007].

Classifications:



External Ids:

Disease Ontology 11 DOID:0060639

Summaries for Permanent Neonatal Diabetes Mellitus

MedlinePlus Genetics: 42 Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.

MalaCards based summary: Permanent Neonatal Diabetes Mellitus, also known as pndm, is related to diabetes mellitus, permanent neonatal, 1 and isolated permanent neonatal diabetes mellitus, and has symptoms including muscle weakness and seizures. An important gene associated with Permanent Neonatal Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Nervous system development and Glucose / 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

GARD: 19 Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by genetic changes in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner.

Disease Ontology: 11 A neonatal diabetes that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.

Wikipedia: 75 Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of... more...

GeneReviews: NBK1447

Related Diseases for Permanent Neonatal Diabetes Mellitus

Diseases in the Permanent Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Permanent Neonatal, 1 Diabetes Mellitus, Permanent Neonatal, 2
Diabetes Mellitus, Permanent Neonatal, 3 Diabetes Mellitus, Permanent Neonatal, 4

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal, 1 33.1 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
2 isolated permanent neonatal diabetes mellitus 32.9 PDX1 KCNJ11 INS GCK ABCC8
3 diabetes mellitus, permanent neonatal, 4 32.8 INS-IGF2 INS
4 diabetes mellitus, neonatal, with congenital hypothyroidism 32.4 RFX6 IER3IP1 GLIS3
5 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.1 WFS1 SLC19A2 RFX6 PTF1A NEUROD1 KCNJ11
6 neonatal diabetes 31.1 WFS1 SLC2A2 RFX6 PTF1A PDX1 NEUROG3
7 hypoglycemia 30.9 SLC2A2 KCNJ5 KCNJ11 INS GCK ABCC8
8 type 1 diabetes mellitus 30.8 WFS1 PDX1 NEUROD1 INS GCK
9 hyperglycemia 30.8 SLC2A2 PDX1 NEUROG3 KCNJ11 INS GCK
10 monogenic diabetes 30.7 KCNJ11 INS-IGF2 INS GCK ABCC8
11 gestational diabetes 30.6 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
12 wolfram syndrome 1 30.5 WFS1 KCNJ11 INS ABCC8
13 pancreas, annular 30.5 RFX6 PTF1A
14 maturity-onset diabetes of the young, type 13 30.4 RFX6 PDX1 NEUROD1 KCNJ11 GCK ABCC8
15 glucose intolerance 30.4 NEUROG3 NEUROD1 KCNJ11 INS GCK ABCC8
16 maturity-onset diabetes of the young, type 4 30.3 SLC2A2 RFX6 PDX1 NEUROG3 NEUROD1 KCNJ11
17 maturity-onset diabetes of the young, type 2 30.3 WFS1 SLC2A2 RFX6 PDX1 NEUROD1 KCNJ11
18 diabetes mellitus 30.2 WFS1 SLC2A2 SLC19A2 RFX6 PTF1A PDX1
19 transient neonatal diabetes mellitus 30.0 SLC2A2 SLC19A2 RFX6 PTF1A PDX1 NEUROG3
20 pancreatic agenesis 29.7 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
21 maturity-onset diabetes of the young 29.5 WFS1 SLC2A2 SLC19A2 RFX6 PTF1A PDX1
22 pancreatic and cerebellar agenesis 11.9
23 diabetes mellitus, permanent neonatal, 2 11.5
24 diabetes mellitus, permanent neonatal, 3 11.5
25 diabetes mellitus, ketosis-prone 10.4
26 type 1 diabetes mellitus 6 10.4 PDX1 INS
27 munchausen by proxy 10.4 KCNJ11 GCK ABCC8
28 fetal erythroblastosis 10.4 KCNJ11 INS ABCC8
29 hyperinsulinemic hypoglycemia, familial, 6 10.4 KCNJ11 GCK ABCC8
30 hyperproinsulinemia 10.4 INS-IGF2 INS
31 hyperinsulinemic hypoglycemia, familial, 3 10.4 GCK ABCC8
32 asphyxia neonatorum 10.4 KCNJ11 INS ABCC8
33 hyperinsulinemic hypoglycemia, familial, 2 10.4 KCNJ11 INS ABCC8
34 hypoglycemia, leucine-induced 10.3 KCNJ11 ABCC8
35 type 1 diabetes mellitus 11 10.3 PDX1 NEUROD1
36 factitious disorder 10.3 KCNJ11 INS GCK ABCC8
37 cardiomyopathy, dilated, 1o 10.3 SLC2A2 KCNJ11 ABCC8
38 fanconi-bickel syndrome 10.3 SLC2A2 INS ABCC8
39 type 1 diabetes mellitus 12 10.3 KCNJ11 INS
40 umbilical hernia 10.3 KCNJ11 HYMAI ABCC8
41 heart defects, congenital, and other congenital anomalies 10.3 PTF1A PDX1 GATA6
42 hypokalemic periodic paralysis, type 1 10.3 KCNJ5 KCNJ11 INS
43 diarrhea 4, malabsorptive, congenital 10.3 RFX6 NEUROG3
44 maturity-onset diabetes of the young, type 14 10.3 NEUROD1 KCNJ11 GCK ABCC8
45 fructosuria, essential 10.3 SLC2A2 GCK
46 hypertrichosis 10.3 KCNJ11 INS ABCC8
47 neurogenic bladder 10.3 WFS1 MNX1 INS
48 patent ductus arteriosus 1 10.3 KCNJ11 INS GATA6 ABCC8
49 type 1 diabetes mellitus 8 10.3 SLC2A2 INS
50 hyperinsulinism 10.3 KCNJ5 KCNJ11 INS GCK ABCC8

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



Diseases related to Permanent Neonatal Diabetes Mellitus

Symptoms & Phenotypes for Permanent Neonatal Diabetes Mellitus

UMLS symptoms related to Permanent Neonatal Diabetes Mellitus:


muscle weakness; seizures

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.28 EIF2AK3 GCK KCNJ11 KCNJ5 NEUROD1 PDX1

MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ABCC8 EIF2AK3 GATA6 GCK GLIS3 IER3IP1
2 growth/size/body region MP:0005378 10.2 ABCC8 EIF2AK3 GATA6 GCK GLIS3 INS
3 endocrine/exocrine gland MP:0005379 10.13 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
4 no phenotypic analysis MP:0003012 10.01 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 NEUROG3
5 digestive/alimentary MP:0005381 9.85 EIF2AK3 INS MNX1 NEUROD1 NEUROG3 PDX1
6 cellular MP:0005384 9.77 EIF2AK3 GATA6 GCK GLIS3 INS MNX1
7 mortality/aging MP:0010768 9.53 EIF2AK3 GATA6 GCK GLIS3 IER3IP1 INS

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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

(show all 6)
# 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 Glucagon-Like Peptide 1 Phase 4
6 Hypoglycemic Agents Phase 4

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

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

Genetic Tests for Permanent Neonatal Diabetes Mellitus

Genetic tests related to Permanent Neonatal Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 28 ABCC8 GCK INS KCNJ11 PDX1

Anatomical Context for Permanent Neonatal Diabetes Mellitus

Organs/tissues related to Permanent Neonatal Diabetes Mellitus:

MalaCards : Pancreas, Pancreatic Islet, Heart, Brain, Eye, Kidney

Publications for Permanent Neonatal Diabetes Mellitus

Articles related to Permanent Neonatal Diabetes Mellitus:

(show top 50) (show all 449)
# Title Authors PMID Year
1
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. 24 5
18767144 2009
2
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 24 5
17446535 2007
3
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. 24 5
17021801 2006
4
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. 24 5
16885550 2006
5
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. 24 5
16609879 2006
6
Molecular basis of neonatal diabetes in Japanese patients. 62 5
17635943 2007
7
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. 62 5
17490422 2007
8
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. 62 5
17296510 2006
9
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 62 5
16731833 2006
10
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype. 5
32418263 2020
11
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. 5
28247534 2017
12
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 5
27908292 2016
13
Clinical and genetic characterization of congenital hyperinsulinism in Spain. 5
27188453 2016
14
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 5
23345197 2013
15
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 5
23275527 2013
16
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 62 24
22369132 2012
17
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 5
22311976 2012
18
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 5
21812132 2011
19
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 5
21422196 2011
20
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 5
20685672 2010
21
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. 62 24
19496964 2010
22
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 5
19884385 2009
23
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. 62 24
19837917 2009
24
Diagnosis and treatment of neonatal diabetes: a United States experience. 62 24
18662362 2008
25
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 62 24
18571549 2008
26
Neonatal diabetes mellitus. 5
18436707 2008
27
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 5
18250167 2008
28
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. 62 24
17919176 2007
29
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. 5
17673911 2007
30
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 62 24
17668386 2007
31
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 62 24
17317760 2007
32
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 62 24
17213273 2007
33
Neonatal diabetes mellitus: a disease linked to multiple mechanisms. 62 24
17349054 2007
34
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. 62 24
17259376 2007
35
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. 5
16636122 2006
36
Molecular genetics goes to the diabetes clinic. 5
16268330 2005
37
Relapsing diabetes can result from moderately activating mutations in KCNJ11. 62 24
15718250 2005
38
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 5
15562009 2005
39
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 62 24
15580558 2005
40
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 62 24
15583126 2004
41
Mutations in PTF1A cause pancreatic and cerebellar agenesis. 62 24
15543146 2004
42
Toward linking structure with function in ATP-sensitive K+ channels. 5
15561897 2004
43
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. 62 24
15181075 2004
44
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 62 24
12970316 2003
45
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 5
12524280 2003
46
SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions. 5
12213829 2002
47
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. 62 24
12378186 2002
48
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 5
11395395 2001
49
The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels. 5
10049691 1999
50
Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP. 5
9831713 1999

Variations for Permanent Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

5 (show top 50) (show all 355)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCK NM_000162.5(GCK):c.1019+2T>G SNV Pathogenic
21075 rs193929376 GRCh37: 7:44186060-44186060
GRCh38: 7:44146461-44146461
2 INS-IGF2, INS NM_000207.3(INS):c.188-31G>A SNV Pathogenic
211186 rs797045623 GRCh37: 11:2181258-2181258
GRCh38: 11:2160028-2160028
3 ABCC8 NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) SNV Pathogenic
434047 rs1554909277 GRCh37: 11:17424265-17424265
GRCh38: 11:17402718-17402718
4 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic
188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
5 ABCC8 NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) SNV Pathogenic
9105 rs137852673 GRCh37: 11:17417462-17417462
GRCh38: 11:17395915-17395915
6 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic
265175 rs769268803 GRCh37: 7:44187346-44187346
GRCh38: 7:44147747-44147747
7 INS-IGF2, INS NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV Pathogenic
21117 rs80356669 GRCh37: 11:2181150-2181150
GRCh38: 11:2159920-2159920
8 KCNJ11 NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) SNV Pathogenic
36431 rs80356611 GRCh37: 11:17409490-17409490
GRCh38: 11:17387943-17387943
9 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic
495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
10 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs) DEL Pathogenic
21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
11 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic
36243 rs148311934 GRCh37: 7:44189362-44189362
GRCh38: 7:44149763-44149763
12 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic
435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
13 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic
129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
14 GCK NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) SNV Likely Pathogenic
521398 rs758737171 GRCh37: 7:44184809-44184809
GRCh38: 7:44145210-44145210
15 KCNJ11 NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) DEL Likely Pathogenic
947372 rs1953591118 GRCh37: 11:17409481-17409487
GRCh38: 11:17387934-17387940
16 KCNJ11 NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) DUP Likely Pathogenic
1065989 GRCh37: 11:17409233-17409234
GRCh38: 11:17387686-17387687
17 ABCC8 NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) SNV Likely Pathogenic
434057 rs1554904936 GRCh37: 11:17417199-17417199
GRCh38: 11:17395652-17395652
18 ABCC8 NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) SNV Likely Pathogenic
35623 rs193922408 GRCh37: 11:17414669-17414669
GRCh38: 11:17393122-17393122
19 KCNJ11 NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) SNV Likely Pathogenic
8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
20 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Likely Pathogenic
434045 rs72559715 GRCh37: 11:17415926-17415926
GRCh38: 11:17394379-17394379
21 ABCC8 NM_000352.6(ABCC8):c.290+2T>C SNV Likely Pathogenic
552247 rs1554948310 GRCh37: 11:17496431-17496431
GRCh38: 11:17474884-17474884
22 KCNJ11 NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) DUP Likely Pathogenic
555247 rs1337406718 GRCh37: 11:17408574-17408575
GRCh38: 11:17387027-17387028
23 KCNJ11 NM_000525.4(KCNJ11):c.718dup (p.Met240fs) DUP Likely Pathogenic
555590 rs1554901718 GRCh37: 11:17408920-17408921
GRCh38: 11:17387373-17387374
24 KCNJ11 NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) SNV Likely Pathogenic
8683 rs74339576 GRCh37: 11:17408737-17408737
GRCh38: 11:17387190-17387190
25 INS-IGF2, INS NM_000207.3(INS):c.308A>G (p.Tyr103Cys) SNV Likely Pathogenic
68732 rs121908277 GRCh37: 11:2181107-2181107
GRCh38: 11:2159877-2159877
26 KCNJ11 NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) SNV Likely Pathogenic
586105 rs1564865232 GRCh37: 11:17408865-17408865
GRCh38: 11:17387318-17387318
27 KCNJ11 NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) SNV Likely Pathogenic
551187 rs1371185696 GRCh37: 11:17409079-17409079
GRCh38: 11:17387532-17387532
28 KCNJ11 NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) SNV Likely Pathogenic
1219242 GRCh37: 11:17409538-17409538
GRCh38: 11:17387991-17387991
29 KCNJ11 NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) SNV Likely Pathogenic
557416 rs954727530 GRCh37: 11:17409539-17409539
GRCh38: 11:17387992-17387992
30 KCNJ11 NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) DUP Likely Pathogenic
553023 rs1554901690 GRCh37: 11:17408867-17408868
GRCh38: 11:17387320-17387321
31 KCNJ11 NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) MICROSAT Likely Pathogenic
556063 rs1554901829 GRCh37: 11:17409273-17409276
GRCh38: 11:17387726-17387729
32 KCNJ11 NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) SNV Likely Pathogenic
557258 rs587783669 GRCh37: 11:17409141-17409141
GRCh38: 11:17387594-17387594
33 KCNJ11 NM_000525.4(KCNJ11):c.290dup (p.His97fs) DUP Likely Pathogenic
557649 rs1554901854 GRCh37: 11:17409348-17409349
GRCh38: 11:17387801-17387802
34 INS-IGF2, INS NM_000207.3(INS):c.26C>G (p.Pro9Arg) SNV Likely Pathogenic
626220 rs1564912403 GRCh37: 11:2182176-2182176
GRCh38: 11:2160946-2160946
35 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) SNV Likely Pathogenic
35617 rs193922402 GRCh37: 11:17417158-17417158
GRCh38: 11:17395611-17395611
36 GCK NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) SNV Likely Pathogenic
36200 rs193922283 GRCh37: 7:44184775-44184775
GRCh38: 7:44145176-44145176
37 GCK NM_000162.5(GCK):c.666C>T (p.Val222=) SNV Uncertain Significance
36242 rs193922318 GRCh37: 7:44189372-44189372
GRCh38: 7:44149773-44149773
38 KCNJ11 NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) SNV Uncertain Significance
729862 rs374134161 GRCh37: 11:17409612-17409612
GRCh38: 11:17388065-17388065
39 KCNJ11 NM_000525.4(KCNJ11):c.-6G>A SNV Uncertain Significance
989949 rs554874150 GRCh37: 11:17409644-17409644
GRCh38: 11:17388097-17388097
40 ABCC8 NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) SNV Uncertain Significance
877186 rs201724038 GRCh37: 11:17448655-17448655
GRCh38: 11:17427108-17427108
41 ABCC8 NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) SNV Uncertain Significance
877309 rs370169777 GRCh37: 11:17470126-17470126
GRCh38: 11:17448579-17448579
42 ABCC8 NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) SNV Uncertain Significance
878288 rs763794263 GRCh37: 11:17453779-17453779
GRCh38: 11:17432232-17432232
43 ABCC8 NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) SNV Uncertain Significance
879471 rs774965446 GRCh37: 11:17418746-17418746
GRCh38: 11:17397199-17397199
44 ABCC8 NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) SNV Uncertain Significance
880150 rs778892038 GRCh37: 11:17483165-17483165
GRCh38: 11:17461618-17461618
45 GCK NM_000162.5(GCK):c.1120G>T (p.Val374Leu) SNV Uncertain Significance
908614 rs1415041911 GRCh37: 7:44185229-44185229
GRCh38: 7:44145630-44145630
46 GCK NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) SNV Uncertain Significance
908615 rs1000236360 GRCh37: 7:44185325-44185325
GRCh38: 7:44145726-44145726
47 GCK NM_000162.5(GCK):c.580-11C>T SNV Uncertain Significance
908684 rs370016334 GRCh37: 7:44189469-44189469
GRCh38: 7:44149870-44149870
48 GCK NM_000162.5(GCK):c.-102G>C SNV Uncertain Significance
908804 rs781377703 GRCh37: 7:44228654-44228654
GRCh38: 7:44189055-44189055
49 GCK NM_000162.5(GCK):c.-449G>A SNV Uncertain Significance
908863 rs1375544246 GRCh37: 7:44229001-44229001
GRCh38: 7:44189402-44189402
50 GCK NM_000162.5(GCK):c.792C>A (p.Gly264=) SNV Uncertain Significance
909471 rs754094813 GRCh37: 7:44187320-44187320
GRCh38: 7:44147721-44147721

Expression for Permanent Neonatal Diabetes Mellitus

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

Pathways for Permanent Neonatal Diabetes Mellitus

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2 12.3 WFS1 PDX1 NEUROD1 INS
3
Show member pathways
12.26 SLC2A2 KCNJ11 INS ABCC8
4
Show member pathways
12.22 SLC2A2 KCNJ11 GCK ABCC8
5
Show member pathways
11.86 GCK INS NEUROD1 PDX1 SLC2A2
6 11.86 SLC2A2 PTF1A PDX1 NEUROG3 NEUROD1 INS
7
Show member pathways
11.85 KCNJ5 KCNJ11 ABCC8
8
Show member pathways
11.51 SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
9 11.35 KCNJ5 KCNJ11 ABCC8
10
Show member pathways
11.27 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
11 11.23 PTF1A NEUROG3 GATA6
12 10.97 SLC2A2 PDX1 KCNJ11 INS-IGF2
13 10.75 SLC2A2 INS
14 10.61 SLC2A2 PDX1 NEUROD1 KCNJ11 INS GCK

GO Terms for Permanent Neonatal Diabetes Mellitus

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of DNA-templated transcription GO:0006355 10.25 GATA6 INS MNX1 NEUROD1 NEUROG3 PDX1
2 response to xenobiotic stimulus GO:0009410 10.19 PDX1 NEUROD1 KCNJ11 GATA6 ABCC8
3 glucose metabolic process GO:0006006 10.03 PDX1 KCNJ11 INS GCK
4 regulation of insulin secretion GO:0050796 10.01 RFX6 NEUROD1 KCNJ11 GCK
5 potassium ion import across plasma membrane GO:1990573 10 KCNJ5 KCNJ11 ABCC8
6 positive regulation of cell differentiation GO:0045597 9.97 NEUROG3 NEUROD1 INS
7 glucose homeostasis GO:0042593 9.93 WFS1 RFX6 PDX1 NEUROD1 INS GCK
8 ER overload response GO:0006983 9.9 WFS1 EIF2AK3
9 cell fate commitment GO:0045165 9.89 PTF1A NEUROD1 GATA6
10 amacrine cell differentiation GO:0035881 9.88 PTF1A NEUROD1
11 exocrine pancreas development GO:0031017 9.87 PTF1A PDX1
12 pancreatic A cell differentiation GO:0003310 9.86 RFX6 GATA6
13 type B pancreatic cell differentiation GO:0003309 9.85 RFX6 PDX1 GATA6
14 transdifferentiation GO:0060290 9.84 PDX1 NEUROG3
15 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.8 WFS1 PDX1 NEUROD1
16 detection of glucose GO:0051594 9.78 PDX1 GCK
17 hindbrain development GO:0030902 9.76 NEUROD1 NEUROG3 PTF1A
18 pancreas development GO:0031016 9.73 GATA6 PDX1 PTF1A WFS1
19 enteroendocrine cell differentiation GO:0035883 9.69 PDX1 NEUROD1
20 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.5 SLC2A2 RFX6 PDX1 KCNJ11 ABCC8
21 endocrine pancreas development GO:0031018 9.36 RFX6 PDX1 NEUROG3 NEUROD1 MNX1 EIF2AK3

Molecular functions related to Permanent Neonatal Diabetes Mellitus 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 10.06 RFX6 PTF1A PDX1 NEUROG3 NEUROD1 MNX1
2 sequence-specific DNA binding GO:0043565 9.43 PTF1A PDX1 NEUROD1 GLIS3 GATA6
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ11 ABCC8

Sources for Permanent Neonatal Diabetes Mellitus

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
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