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PDMI
MCID: PRM030
MIFTS: 59

Permanent Neonatal Diabetes Mellitus (PDMI)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

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MalaCards integrated aliases for Permanent Neonatal Diabetes Mellitus:

Name: Permanent Neonatal Diabetes Mellitus 12 25 20 43 58 36 29 6 15
Pndm 12 20 43 58
Permanent Diabetes Mellitus of Infancy 12 20
Neonatal Diabetes Mellitus, Permanent 73
Monogenic Diabetes of Infancy 58
Pdmi 12

Characteristics:

Orphanet epidemiological data:

58
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;

GeneReviews:

25
Penetrance Reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007].

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Endocrine diseases Gastrointestinal diseases Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


Sources

Summaries for Permanent Neonatal Diabetes Mellitus

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MedlinePlus Genetics : 43 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, 4 and diabetes mellitus, permanent neonatal, 1, and has symptoms including seizures and muscle weakness. 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 Insulin signaling pathway and Developmental Biology. The drugs Glucagon and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, heart and eye, and related phenotypes are failure to thrive and dehydration

Disease Ontology : 12 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.

GARD : 20 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 mutations 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. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).

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.

Wikipedia : 73 Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of... more...

GeneReviews: NBK1447
Sources

Related Diseases for Permanent Neonatal Diabetes Mellitus

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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 85)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal, 4 33.3 INS-IGF2 INS
2 diabetes mellitus, permanent neonatal, 1 33.2 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.5 RFX6 PTF1A KCNJ11 INS IER3IP1 GLIS3
4 pancreatic agenesis 32.2 RFX6 PTF1A PDX1 NEUROD1 KCNJ11 INS
5 neonatal diabetes 31.9 SLC19A2 RFX6 PTF1A PDX1 NEUROD1 KCNJ5
6 hyperglycemia 31.2 PDX1 KCNJ11 INS GCK ABCC8
7 hypoglycemia 31.2 KCNJ11 INS GCK ABCC8
8 diabetes mellitus, ketosis-prone 31.1 KCNJ11 INS ABCC8
9 diabetes mellitus 30.9 STAT3 SLC19A2 RFX6 PTF1A PDX1 NEUROD1
10 gestational diabetes 30.9 KCNJ11 INS GCK ABCC8
11 monogenic diabetes 30.8 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
12 maturity-onset diabetes of the young, type 4 30.8 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
13 maturity-onset diabetes of the young 30.6 SLC19A2 RFX6 PTF1A PDX1 NEUROD1 KCNJ11
14 maturity-onset diabetes of the young, type 13 30.6 PDX1 NEUROD1 KCNJ11 GCK ABCC8
15 glucose intolerance 30.6 NEUROD1 KCNJ11 INS GCK ABCC8
16 maturity-onset diabetes of the young, type 2 30.6 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
17 pancreas, annular 30.6 RFX6 PTF1A
18 type 1 diabetes mellitus 30.6 PDX1 NEUROD1 INS GCK
19 transient neonatal diabetes mellitus 30.4 SLC19A2 RFX6 PTF1A PDX1 NEUROD1 LOC110121471
20 diabetes mellitus, permanent neonatal, 2 11.8
21 diabetes mellitus, permanent neonatal, 3 11.8
22 pancreatic and cerebellar agenesis 11.5
23 munchausen by proxy 10.5 KCNJ11 GCK ABCC8
24 asphyxia neonatorum 10.4 KCNJ11 INS ABCC8
25 factitious disorder 10.4 KCNJ11 INS GCK ABCC8
26 maturity-onset diabetes of the young, type 14 10.4 PDX1 NEUROD1 GCK
27 hyperinsulinemic hypoglycemia, familial, 6 10.4 KCNJ11 GCK ABCC8
28 acute insulin response 10.4 KCNJ5 KCNJ11 INS ABCC8
29 maturity-onset diabetes of the young, type 11 10.4 PDX1 NEUROD1 KCNJ11 ABCC8
30 hyperinsulinemic hypoglycemia, familial, 7 10.4 RFX6 KCNJ11 GCK ABCC8
31 type 1 diabetes mellitus 11 10.4 PDX1 NEUROD1
32 hyperinsulinemic hypoglycemia, familial, 2 10.4 LOC110121471 KCNJ11 INS ABCC8
33 hyperproinsulinemia 10.4 INS-IGF2 INS
34 hyperinsulinemic hypoglycemia, familial, 1 10.4 LOC110121471 KCNJ11 ABCC8
35 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 PDX1 NEUROD1 KCNJ11 GCK ABCC8
36 wolfram syndrome 10.4 KCNJ11 INS GCK EIF2AK3
37 umbilical hernia 10.4 KCNJ11 HYMAI ABCC8
38 maturity-onset diabetes of the young, type 7 10.4 PDX1 NEUROD1 KCNJ11 GCK ABCC8
39 maturity-onset diabetes of the young, type 9 10.4 PDX1 NEUROD1 KCNJ11 GCK ABCC8
40 maturity-onset diabetes of the young, type 6 10.4 PDX1 NEUROD1 KCNJ11 GCK ABCC8
41 renal cysts and diabetes syndrome 10.4 PDX1 NEUROD1 KCNJ11 GCK ABCC8
42 pancreatic cystadenoma 10.4 PDX1 NEUROD1 INS GCK ABCC8
43 intestinal atresia 10.4 RFX6 PDX1 GLIS3 GCK
44 maturity-onset diabetes of the young, type 1 10.4 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
45 glucose metabolism disease 10.4 KCNJ11 INS GCK ABCC8
46 insulinoma 10.3 PDX1 NEUROD1 INS GCK ABCC8
47 diarrhea 4, malabsorptive, congenital 10.3 RFX6 NEUROD1
48 cardiomyopathy, dilated, 1o 10.3 KCNJ11 ABCC8
49 maturity-onset diabetes of the young, type 3 10.3 PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
50 fructose-1,6-bisphosphatase deficiency 10.3 GCK ABCC8

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



Diseases related to Permanent Neonatal Diabetes Mellitus
Sources

Symptoms & Phenotypes for Permanent Neonatal Diabetes Mellitus

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Human phenotypes related to Permanent Neonatal Diabetes Mellitus:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 hyperglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003074
5 glycosuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003076
6 reduced pancreatic beta cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0006274
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 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
10 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
14 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
15 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
16 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
17 ketonuria 58 31 frequent (33%) Frequent (79-30%) HP:0002919
18 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
19 contractures of the joints of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0005750
20 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
21 generalized myoclonic seizure 31 frequent (33%) HP:0002123
22 moderate albuminuria 31 frequent (33%) HP:0012594
23 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
24 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
25 renal tubular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000124
26 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
27 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
28 pancreatic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002594
29 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
30 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
31 hypotonia 31 occasional (7.5%) HP:0001252
32 intellectual disability 58 Frequent (79-30%)
33 muscular hypotonia 58 Occasional (29-5%)
34 neurodevelopmental delay 58 Frequent (79-30%)
35 generalized myoclonic seizures 58 Frequent (79-30%)
36 abnormality of the upper urinary tract 58 Occasional (29-5%)
37 generalized tonic-clonic seizures 58 Frequent (79-30%)
38 autoimmune antibody positivity 58 Excluded (0%)
39 microalbuminuria 58 Frequent (79-30%)

UMLS symptoms related to Permanent Neonatal Diabetes Mellitus:


seizures; muscle weakness

MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
2 endocrine/exocrine gland MP:0005379 10.15 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
3 digestive/alimentary MP:0005381 10.01 EIF2AK3 INS NEUROD1 PDX1 PTF1A RFX6
4 mortality/aging MP:0010768 10 CUTA EIF2AK3 GCK GLIS3 IER3IP1 INS
5 liver/biliary system MP:0005370 9.8 EIF2AK3 GCK INS PDX1 PPT1 PTF1A
6 no phenotypic analysis MP:0003012 9.5 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 PDX1
7 renal/urinary system MP:0005367 9.17 GCK GLIS3 INS NEUROD1 PDX1 PPT1
Sources

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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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
Glucagon Approved Phase 4 16941-32-5
2
Glyburide Approved Phase 4 10238-21-8 3488
3 insulin Phase 4
4 Hypoglycemic Agents Phase 4
5 Glucagon-Like Peptide 1 Phase 4
6 Insulin, Globin Zinc 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 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

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

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Genetic Tests for Permanent Neonatal Diabetes Mellitus

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Genetic tests related to Permanent Neonatal Diabetes Mellitus:

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

Anatomical Context for Permanent Neonatal Diabetes Mellitus

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MalaCards organs/tissues related to Permanent Neonatal Diabetes Mellitus:

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

Publications for Permanent Neonatal Diabetes Mellitus

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Articles related to Permanent Neonatal Diabetes Mellitus:

(show top 50) (show all 379)
# Title Authors PMID Year
1
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 25 6 61
12970316 2003
2
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. 6 25
21592955 2011
3
Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals. 6 25
21566073 2011
4
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. 6 25
20938745 2010
5
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 25 6
20009086 2010
6
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. 6 25
20133622 2010
7
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 6 25
17446535 2007
8
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 6
27908292 2016
9
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 6
23345197 2013
10
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 6
23275527 2013
11
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 25 61
22369132 2012
12
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 6
22311976 2012
13
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 6
21812132 2011
14
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 6
21422196 2011
15
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 6
20685672 2010
16
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. 25 61
19496964 2010
17
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. 25 61
19837917 2009
18
Diagnosis and treatment of neonatal diabetes: a United States experience. 61 25
18662362 2008
19
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 61 25
18571549 2008
20
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 6
18250167 2008
21
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. 25 61
17919176 2007
22
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 61 25
17668386 2007
23
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 61 25
17317760 2007
24
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 61 25
17213273 2007
25
Neonatal diabetes mellitus: a disease linked to multiple mechanisms. 25 61
17349054 2007
26
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. 61 25
17259376 2007
27
Relapsing diabetes can result from moderately activating mutations in KCNJ11. 61 25
15718250 2005
28
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 6
15562009 2005
29
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 25 61
15580558 2005
30
Mutations in PTF1A cause pancreatic and cerebellar agenesis. 61 25
15543146 2004
31
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 61 25
15583126 2004
32
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. 25 61
15181075 2004
33
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 6
12524280 2003
34
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. 25 61
12378186 2002
35
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. 6
11395395 2001
36
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 25
27284104 2016
37
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. 25
27033559 2016
38
11. Children and Adolescents. 25
26696687 2016
39
13. Diabetes Care in the Hospital. 25
26696689 2016
40
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. 25
25877689 2015
41
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 25
25182307 2014
42
GATA4 mutations are a cause of neonatal and childhood-onset diabetes. 25
24696446 2014
43
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 25
24138066 2014
44
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. 25
24411943 2014
45
The Krüppel-like protein Gli-similar 3 (Glis3) functions as a key regulator of insulin transcription. 25
23927931 2013
46
Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. 25
23600988 2013
47
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. 25
23223019 2013
48
Glis3 regulates neurogenin 3 expression in pancreatic β-cells and interacts with its activator, Hnf6. 25
22820919 2012
49
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. 25
21993633 2011
50
GATA6 haploinsufficiency causes pancreatic agenesis in humans. 25
22158542 2011
Sources

Variations for Permanent Neonatal Diabetes Mellitus

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ClinVar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

6 (show top 50) (show all 348)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INS-IGF2 , INS NM_000207.3(INS):c.287G>A (p.Cys96Tyr) SNV Pathogenic 13387 rs80356671 GRCh37: 11:2181128-2181128
GRCh38: 11:2159898-2159898
2 INS-IGF2 , INS NM_000207.3(INS):c.71C>A (p.Ala24Asp) SNV Pathogenic 13388 rs80356663 GRCh37: 11:2182131-2182131
GRCh38: 11:2160901-2160901
3 INS-IGF2 , INS NM_000207.3(INS):c.143T>G (p.Phe48Cys) SNV Pathogenic 13389 rs80356668 GRCh37: 11:2182059-2182059
GRCh38: 11:2160829-2160829
4 GCK NM_000162.5(GCK):c.629T>A (p.Met210Lys) SNV Pathogenic 16141 rs80356654 GRCh37: 7:44189409-44189409
GRCh38: 7:44149810-44149810
5 GCK NM_000162.5(GCK):c.1133C>T (p.Ala378Val) SNV Pathogenic 21076 rs193929374 GRCh37: 7:44185216-44185216
GRCh38: 7:44145617-44145617
6 GCK NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) SNV Pathogenic 21077 rs193929375 GRCh37: 7:44185159-44185159
GRCh38: 7:44145560-44145560
7 GCK NM_000162.5(GCK):c.790G>A (p.Gly264Ser) SNV Pathogenic 21078 rs193929373 GRCh37: 7:44187322-44187322
GRCh38: 7:44147723-44147723
8 INS-IGF2 , INS NM_000207.3(INS):c.127T>G (p.Cys43Gly) SNV Pathogenic 21114 rs80356666 GRCh37: 11:2182075-2182075
GRCh38: 11:2160845-2160845
9 INS-IGF2 , INS NM_000207.3(INS):c.140G>T (p.Gly47Val) SNV Pathogenic 21115 rs80356667 GRCh37: 11:2182062-2182062
GRCh38: 11:2160832-2160832
10 INS-IGF2 , INS NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV Pathogenic 21117 rs80356669 GRCh37: 11:2181150-2181150
GRCh38: 11:2159920-2159920
11 INS-IGF2 , INS NM_000207.3(INS):c.268G>T (p.Gly90Cys) SNV Pathogenic 21118 rs80356670 GRCh37: 11:2181147-2181147
GRCh38: 11:2159917-2159917
12 INS-IGF2 , INS NM_000207.3(INS):c.323A>G (p.Tyr108Cys) SNV Pathogenic 21120 rs80356672 GRCh37: 11:2181092-2181092
GRCh38: 11:2159862-2159862
13 INS-IGF2 , INS NM_000207.3(INS):c.94G>A (p.Gly32Ser) SNV Pathogenic 21122 rs80356664 GRCh37: 11:2182108-2182108
GRCh38: 11:2160878-2160878
14 INS-IGF2 , INS NM_000207.3(INS):c.94G>C (p.Gly32Arg) SNV Pathogenic 21123 rs80356664 GRCh37: 11:2182108-2182108
GRCh38: 11:2160878-2160878
15 INS-IGF2 , INS NM_000207.3(INS):c.*59A>G SNV Pathogenic 65581 rs397515519 GRCh37: 11:2181023-2181023
GRCh38: 11:2159793-2159793
16 INS-IGF2 , INS NM_000207.3(INS):c.-39A>C SNV Pathogenic 431444 rs1554921033 GRCh37: 11:2182419-2182419
GRCh38: 11:2161189-2161189
17 INS NM_000207.2(INS):c.-152C>A SNV Pathogenic 431442 rs748749585 GRCh37: 11:2182532-2182532
GRCh38: 11:2161302-2161302
18 INS NM_000207.2(INS):c.-152C>G SNV Pathogenic 431443 rs748749585 GRCh37: 11:2182532-2182532
GRCh38: 11:2161302-2161302
19 INS NM_000207.2(INS):c.-187_-164del Deletion Pathogenic 431441 rs1135401727 GRCh37: 11:2182544-2182567
GRCh38: 11:2161314-2161337
20 overlap with 2 genes NM_000207.2(INS):c.(?_-191)_(187_?)+1del Deletion Pathogenic 431440 GRCh37: 11:2182014-2182571
GRCh38: 11:2160784-2161341
21 INS-IGF2 , INS NM_000207.3(INS):c.3G>A (p.Met1Ile) SNV Pathogenic 65587 rs397515521 GRCh37: 11:2182199-2182199
GRCh38: 11:2160969-2160969
22 INS-IGF2 , INS NM_000207.3(INS):c.3G>T (p.Met1Ile) SNV Pathogenic 65588 rs397515521 GRCh37: 11:2182199-2182199
GRCh38: 11:2160969-2160969
23 INS-IGF2 , INS NM_000207.3(INS):c.188-31G>A SNV Pathogenic 211186 rs797045623 GRCh37: 11:2181258-2181258
GRCh38: 11:2160028-2160028
24 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic 435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
25 ABCC8 NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) SNV Pathogenic 9103 rs80356642 GRCh37: 11:17483314-17483314
GRCh38: 11:17461767-17461767
26 ABCC8 NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) SNV Pathogenic 9104 rs80356653 GRCh37: 11:17417194-17417194
GRCh38: 11:17395647-17395647
27 ABCC8 NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) SNV Pathogenic 9107 rs80356634 GRCh37: 11:17496508-17496508
GRCh38: 11:17474961-17474961
28 ABCC8 NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) SNV Pathogenic 9108 rs80356651 GRCh37: 11:17474698-17474698
GRCh38: 11:17453151-17453151
29 ABCC8 NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) SNV Pathogenic 9109 rs193929369 GRCh37: 11:17426062-17426062
GRCh38: 11:17404515-17404515
30 ABCC8 NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) SNV Pathogenic 9111 rs193929360 GRCh37: 11:17496466-17496466
GRCh38: 11:17474919-17474919
31 ABCC8 NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) SNV Pathogenic 21165 rs193929360 GRCh37: 11:17496466-17496466
GRCh38: 11:17474919-17474919
32 ABCC8 NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) SNV Pathogenic 9102 rs80356637 GRCh37: 11:17491666-17491666
GRCh38: 11:17470119-17470119
33 ABCC8 NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) SNV Pathogenic 21166 rs80356637 GRCh37: 11:17491666-17491666
GRCh38: 11:17470119-17470119
34 ABCC8 NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) SNV Pathogenic 21167 rs193929364 GRCh37: 11:17491656-17491656
GRCh38: 11:17470109-17470109
35 ABCC8 NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu) SNV Pathogenic 21168 rs80356640 GRCh37: 11:17483325-17483325
GRCh38: 11:17461778-17461778
36 ABCC8 NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) SNV Pathogenic 21169 rs193929366 GRCh37: 11:17483321-17483321
GRCh38: 11:17461774-17461774
37 ABCC8 NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) SNV Pathogenic 21170 rs1048095 GRCh37: 11:17483278-17483278
GRCh38: 11:17461731-17461731
38 ABCC8 NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) SNV Pathogenic 434047 rs1554909277 GRCh37: 11:17424265-17424265
GRCh38: 11:17402718-17402718
39 KCNJ11 NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) SNV Pathogenic 8666 rs80356624 GRCh37: 11:17409037-17409037
GRCh38: 11:17387490-17387490
40 KCNJ11 NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) SNV Pathogenic 8668 rs80356625 GRCh37: 11:17409038-17409038
GRCh38: 11:17387491-17387491
41 KCNJ11 NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) SNV Pathogenic 8670 rs80356611 GRCh37: 11:17409490-17409490
GRCh38: 11:17387943-17387943
42 KCNJ11 NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) SNV Pathogenic 8671 rs80356621 GRCh37: 11:17409130-17409130
GRCh38: 11:17387583-17387583
43 KCNJ11 NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) SNV Pathogenic 8672 rs80356622 GRCh37: 11:17409129-17409129
GRCh38: 11:17387582-17387582
44 KCNJ11 NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp) SNV Pathogenic 21193 rs193929358 GRCh37: 11:17408638-17408638
GRCh38: 11:17387091-17387091
45 KCNJ11 NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu) SNV Pathogenic 21194 rs193929333 GRCh37: 11:17409536-17409536
GRCh38: 11:17387989-17387989
46 KCNJ11 NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val) SNV Pathogenic 21195 rs193929333 GRCh37: 11:17409536-17409536
GRCh38: 11:17387989-17387989
47 KCNJ11 NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) SNV Pathogenic 8676 rs80356610 GRCh37: 11:17409515-17409515
GRCh38: 11:17387968-17387968
48 KCNJ11 NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg) SNV Pathogenic 21196 rs193929337 GRCh37: 11:17409484-17409484
GRCh38: 11:17387937-17387937
49 KCNJ11 NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) SNV Pathogenic 8685 rs80356615 GRCh37: 11:17409481-17409481
GRCh38: 11:17387934-17387934
50 KCNJ11 NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) SNV Pathogenic 8669 rs80356617 GRCh37: 11:17409463-17409463
GRCh38: 11:17387916-17387916
Sources

Expression for Permanent Neonatal Diabetes Mellitus

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

Pathways for Permanent Neonatal Diabetes Mellitus

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Pathways related to Permanent Neonatal Diabetes Mellitus according to KEGG:

36
# Name Kegg Source Accession
1 Insulin signaling pathway hsa04910

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.21 STAT3 RFX6 PTF1A PDX1 NEUROD1 INS
2
Aldosterone synthesis and secretion 36
Show member pathways
 12.62 PDX1 KCNJ5 KCNJ11 INS GCK ABCC8
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.78 STAT3 PTF1A PDX1 NEUROD1 INS
4
Hepatic ABC Transporters 63
Show member pathways
 11.72 PDX1 NEUROD1 INS GCK
5
Inwardly rectifying K+ channels 65
Show member pathways
 11.67 KCNJ5 KCNJ11 ABCC8
6
Regulation of beta-cell development 65
Show member pathways
 11.43 RFX6 PTF1A PDX1 NEUROD1 INS GCK
7
Antiarrhythmic Pathway, Pharmacodynamics 60
11.33 KCNJ5 KCNJ11 ABCC8
8
FOXA2 and FOXA3 transcription factor networks 1
11.2 PDX1 KCNJ11 INS GCK ABCC8
9
Type II diabetes mellitus 1 36
Show member pathways
 11.15 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS GCK
Sources

GO Terms for Permanent Neonatal Diabetes Mellitus

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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 8.62 KCNJ11 ABCC8

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.77 STAT3 PDX1 NEUROD1 KCNJ11 ABCC8
2 hindbrain development GO:0030902 9.56 PTF1A NEUROD1
3 glucose metabolic process GO:0006006 9.56 PDX1 KCNJ11 INS GCK
4 negative regulation of gluconeogenesis GO:0045721 9.55 INS GCK
5 nitric oxide mediated signal transduction GO:0007263 9.54 PDX1 NEUROD1
6 inorganic cation transmembrane transport GO:0098662 9.52 KCNJ11 ABCC8
7 positive regulation of glycogen biosynthetic process GO:0045725 9.51 INS GCK
8 cellular response to leptin stimulus GO:0044320 9.49 STAT3 GCK
9 type B pancreatic cell differentiation GO:0003309 9.48 RFX6 PDX1
10 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.46 PDX1 NEUROD1
11 endocrine pancreas development GO:0031018 9.46 RFX6 PDX1 NEUROD1 EIF2AK3
12 amacrine cell differentiation GO:0035881 9.43 PTF1A NEUROD1
13 exocrine pancreas development GO:0031017 9.4 PTF1A PDX1
14 regulation of insulin secretion GO:0050796 9.35 RFX6 NEUROD1 KCNJ11 GCK ABCC8
15 detection of glucose GO:0051594 9.32 PDX1 GCK
16 glucose homeostasis GO:0042593 9.1 STAT3 RFX6 PDX1 NEUROD1 INS GCK

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifier potassium channel activity GO:0005242 9.16 KCNJ5 KCNJ11
2 cation-transporting ATPase activity GO:0019829 8.96 KCNJ11 ABCC8
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8
Sources

Sources for Permanent Neonatal Diabetes Mellitus

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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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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