MCID: DBT083
MIFTS: 62

Diabetes Mellitus, Permanent Neonatal

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal:

Name: Diabetes Mellitus, Permanent Neonatal 53 71 13 69
Permanent Neonatal Diabetes Mellitus 12 23 49 24 55 36 28 14
Pndm 53 12 49 24 55 71
Permanent Diabetes Mellitus of Infancy 12 49 71
Pdmi 53 12 71
Developmental Delay, Epilepsy, and Neonatal Diabetes 28 69
Diabetes, Permanent Neonatal, with or Without Neurologic Features 53
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 28
Diabetes Mellitus Permanent Neonatal with Neurologic Features 71
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 55
Developmental Delay Epilepsy and Neonatal Diabetes 71
Diabetes Mellitus, Permanent, of Infancy; Pdmi 53
Diabetes Mellitus, Permanent, of Infancy 53
Neonatal Diabetes Mellitus, Permanent 72
Monogenic Diabetes of Infancy 55
Dend Syndrome 55
Dend 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
diagnosis within the first 3 months of life
some patients do not show neurologic abnormalities or dysmorphic features
some patients show a favorable response to sulfonylurea treatment


HPO:

31
diabetes mellitus, permanent neonatal:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007]...

Classifications:



Summaries for Diabetes Mellitus, Permanent Neonatal

OMIM : 53 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see 601410) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see 125853) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM; 222100). Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes. Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect. (606176)

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, also known as permanent neonatal diabetes mellitus, is related to epiphyseal dysplasia, multiple, with early-onset diabetes mellitus and diabetes mellitus, and has symptoms including ataxia, seizures and vomiting. An important gene associated with Diabetes Mellitus, Permanent Neonatal is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Type II diabetes mellitus and Maturity onset diabetes of the young. The drugs Glyburide and glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas and heart, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Disease Ontology : 12 A neonatal diabetes mellitus 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.

Genetics Home Reference : 24 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.

NIH Rare Diseases : 49 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). Last updated: 8/24/2012

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused... more...

GeneReviews: NBK1447

Related Diseases for Diabetes Mellitus, Permanent Neonatal

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.7 ABCC8 EIF2AK3 IER3IP1 KCNJ11
2 diabetes mellitus 30.3 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
3 neonatal diabetes mellitus 29.5 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
4 intermediate dend syndrome 12.1
5 pancreatic and cerebellar agenesis 11.6
6 hyperinsulinemic hypoglycemia, familial, 3 10.4 ABCC8 GCK
7 maturity-onset diabetes of the young, type 2 10.4 GCK INS
8 munchausen by proxy 10.4 ABCC8 GCK KCNJ11
9 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
10 hyperinsulinemic hypoglycemia, familial, 2 10.4 ABCC8 INS KCNJ11
11 acute insulin response 10.3 ABCC8 INS KCNJ11
12 pancreas disease 10.3 ABCC8 INS KCNJ11
13 diabetes mellitus, transient neonatal, 1 10.3 ABCC8 INS KCNJ11
14 fanconi-bickel syndrome 10.3 ABCC8 INS
15 factitious disorder 10.2 ABCC8 GCK INS KCNJ11
16 gestational diabetes 10.2 GCK INS KCNJ11
17 endocrine pancreas disease 10.2 ABCC8 GCK INS KCNJ11
18 hyperinsulinemic hypoglycemia 10.2 ABCC8 GCK INS KCNJ11
19 hyperinsulinism 10.2 ABCC8 GCK INS KCNJ11
20 intestinal atresia 10.2 GCK PDX1
21 epilepsy 10.2
22 insulinoma 10.2 ABCC8 GCK INS PDX1
23 hypoglycemia 10.2 ABCC8 GCK INS KCNJ11
24 acquired metabolic disease 10.2 GCK IER3IP1 INS KCNJ11
25 usher syndrome, type ic 10.1 ABCC8 KCNJ11
26 hyperglycemia 10.1 ABCC8 GCK INS KCNJ11 PDX1
27 glucose metabolism disease 10.1 ABCC8 GCK IER3IP1 INS KCNJ11
28 maturity-onset diabetes of the young 10.0 ABCC8 GCK INS KCNJ11 PDX1
29 monogenic diabetes 9.9 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
30 diabetes mellitus, noninsulin-dependent 9.8 ABCC8 GCK INS KCNJ11 PDX1
31 pancreatic agenesis 9.5 ABCC8 GATA6 GCK INS KCNJ11 PDX1

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



Diseases related to Diabetes Mellitus, Permanent Neonatal

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
motor delay
hypsarrhythmia
developmental delay
axial hypotonia
more
Skeletal Hands:
clinodactyly

Endocrine Features:
diabetes mellitus

Growth Other:
intrauterine growth retardation
postnatal growth catch-up occurs in treated patients without neurologic abnormalities

Head And Neck Nose:
anteverted nostrils
small, short nose

Growth Weight:
low birth weight

Head And Neck Ears:
thick ears

Abdomen Pancreas:
beta-cell dysfunction

Immunology:
absence of pancreatic autoantibodies

Muscle Soft Tissue:
muscle weakness

Head And Neck Eyes:
ptosis

Head And Neck Face:
long philtrum

Laboratory Abnormalities:
hyperglycemia
ketoacidosis

Head And Neck Head:
prominent metopic suture

Head And Neck Mouth:
downturned mouth

Skeletal:
limb contractures

Neurologic Peripheral Nervous System:
diabetic peripheral neuropathy in long-standing cases


Clinical features from OMIM:

606176

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002013
4 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
5 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
6 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
8 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
9 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
10 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
11 renal tubular dysfunction 55 31 occasional (7.5%) Occasional (29-5%) HP:0000124
12 retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000488
13 dehydration 55 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001944
14 intellectual disability, severe 55 31 occasional (7.5%) Occasional (29-5%) HP:0010864
15 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
16 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
17 generalized myoclonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002123
18 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
19 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
20 generalized tonic-clonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002069
21 arthrogryposis multiplex congenita 55 31 frequent (33%) Frequent (79-30%) HP:0002804
22 apraxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002186
23 downturned corners of mouth 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002714
24 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
25 motor delay 55 31 frequent (33%) Frequent (79-30%) HP:0001270
26 prominent metopic ridge 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0005487
27 mild global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0011342
28 hypovolemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0011106
29 glycosuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0003076
30 hypsarrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002521
31 abnormal heart morphology 55 31 frequent (33%) Frequent (79-30%) HP:0001627
32 bilateral ptosis 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001488
33 ketonuria 55 31 frequent (33%) Frequent (79-30%) HP:0002919
34 hyperglycemia 55 31 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0003074
35 pancreatic hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002594
36 reduced pancreatic beta cells 55 31 hallmark (90%) Very frequent (99-80%) HP:0006274
37 neonatal insulin-dependent diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000857
38 peripheral axonal neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003477
39 muscular hypotonia of the trunk 55 31 frequent (33%) Frequent (79-30%) HP:0008936
40 elevated hemoglobin a1c 55 31 hallmark (90%) Very frequent (99-80%) HP:0040217
41 thickened ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0009894
42 clinodactyly of the 4th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0040025
43 contractures of the joints of the lower limbs 55 31 frequent (33%) Frequent (79-30%) HP:0005750
44 microalbuminuria 55 31 frequent (33%) Frequent (79-30%) HP:0012594
45 clinodactyly 31 HP:0030084
46 ptosis 31 HP:0000508
47 diabetes mellitus 31 HP:0000819
48 intellectual disability 55 Frequent (79-30%)
49 neurodevelopmental delay 55 Frequent (79-30%)
50 abnormality of the upper urinary tract 55 Occasional (29-5%)

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:


muscle weakness, seizures

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 GLIS3 INS KCNJ11 MNX1 PDX1 PPT1
2 endocrine/exocrine gland MP:0005379 10.14 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
3 growth/size/body region MP:0005378 10.11 EIF2AK3 GATA6 GCK GLIS3 INS KCNJ11
4 digestive/alimentary MP:0005381 9.98 PTF1A SLC19A2 STAT3 EIF2AK3 INS MNX1
5 mortality/aging MP:0010768 9.93 EIF2AK3 GATA6 GCK GLIS3 INS KCNJ11
6 liver/biliary system MP:0005370 9.86 EIF2AK3 GATA6 GCK INS PDX1 PPT1
7 muscle MP:0005369 9.5 GATA6 INS KCNJ11 MNX1 PDX1 PPT1
8 no phenotypic analysis MP:0003012 9.17 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 PDX1

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal

Drugs for Diabetes Mellitus, Permanent Neonatal (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,Phase 2 10238-21-8 3488
2 glucagon Phase 4
3 Glucagon-Like Peptide 1 Phase 4
4 Hypoglycemic Agents Phase 4,Phase 2
5 insulin Phase 4,Phase 2
6 Insulin, Globin Zinc Phase 4,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR) Unknown status NCT02624830 Phase 4 Sulfonylurea
2 Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes Completed NCT02624817 Phase 4 Sulfonylurea
3 Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes Mellitus Completed NCT00610038 Phase 2 glibenclamide

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal

Genetic Tests for Diabetes Mellitus, Permanent Neonatal

Genetic tests related to Diabetes Mellitus, Permanent Neonatal:

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 28 ABCC8 GCK INS KCNJ11 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 28
3 Developmental Delay, Epilepsy, and Neonatal Diabetes 28

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

38
Pancreas, Heart

Publications for Diabetes Mellitus, Permanent Neonatal

Articles related to Diabetes Mellitus, Permanent Neonatal:

(show all 48)
# Title Authors Year
1
Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control. ( 29278452 )
2018
2
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
3
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. ( 28371426 )
2017
4
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. ( 26587058 )
2015
5
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. ( 26388896 )
2015
6
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa. ( 26958039 )
2015
7
Permanent neonatal diabetes mellitus in Jordan. ( 24825091 )
2014
8
Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report. ( 24618446 )
2014
9
Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy. ( 23959658 )
2014
10
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. ( 24468099 )
2014
11
Permanent neonatal diabetes mellitus in China. ( 25052923 )
2014
12
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases. ( 25131821 )
2014
13
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation. ( 24130952 )
2013
14
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. ( 24150202 )
2013
15
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report. ( 23434183 )
2013
16
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. ( 23050777 )
2013
17
Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus. ( 24843665 )
2013
18
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. ( 24168455 )
2013
19
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. ( 21910811 )
2012
20
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. ( 22306677 )
2012
21
Permanent neonatal diabetes mellitus. ( 23569512 )
2012
22
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. ( 22768671 )
2012
23
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. ( 22060631 )
2012
24
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. ( 22672870 )
2012
25
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. ( 22815030 )
2012
26
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. ( 21054355 )
2011
27
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. ( 21823539 )
2011
28
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. ( 21518409 )
2011
29
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. ( 21352428 )
2011
30
The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy. ( 20466780 )
2010
31
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. ( 19774848 )
2009
32
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. ( 19247925 )
2009
33
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. ( 19169493 )
2008
34
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. ( 18571549 )
2008
35
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. ( 18981553 )
2008
36
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). ( 17317760 )
2007
37
Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome). ( 17888143 )
2007
38
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. ( 17491708 )
2006
39
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene. ( 16816952 )
2006
40
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. ( 15531505 )
2004
41
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. ( 14976569 )
2003
42
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. ( 10617703 )
2000
43
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. ( 10212083 )
1999
44
Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. ( 10798084 )
1999
45
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
46
Permanent Neonatal Diabetes Mellitus ( 20301620 )
1993
47
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. ( 1537364 )
1992
48
Permanent neonatal diabetes mellitus: a case report with plasma insulin studies. ( 1130120 )
1975

Variations for Diabetes Mellitus, Permanent Neonatal

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

71 (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
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
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

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh37 Chromosome 11, 17409037: 17409037
2 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh37 Chromosome 11, 17409464: 17409464
3 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh37 Chromosome 11, 17409038: 17409038
4 KCNJ11 NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic rs80356617 GRCh37 Chromosome 11, 17409463: 17409463
5 KCNJ11 NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro) single nucleotide variant Pathogenic rs80356611 GRCh37 Chromosome 11, 17409490: 17409490
6 KCNJ11 NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg) single nucleotide variant Pathogenic rs80356621 GRCh37 Chromosome 11, 17409130: 17409130
7 KCNJ11 NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn) single nucleotide variant Pathogenic rs80356622 GRCh37 Chromosome 11, 17409129: 17409129
8 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
9 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
10 KCNJ11 NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs80356618 GRCh37 Chromosome 11, 17409142: 17409142
11 KCNJ11 NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu) single nucleotide variant Pathogenic rs80356620 GRCh37 Chromosome 11, 17409140: 17409140
12 KCNJ11 NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp) single nucleotide variant Pathogenic rs80356615 GRCh37 Chromosome 11, 17409481: 17409481
13 ABCC8 NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
14 ABCC8 NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg) single nucleotide variant Pathogenic rs80356642 GRCh37 Chromosome 11, 17483314: 17483314
15 ABCC8 NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val) single nucleotide variant Pathogenic rs80356653 GRCh37 Chromosome 11, 17417194: 17417194
16 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
17 ABCC8 NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser) single nucleotide variant Pathogenic rs80356634 GRCh37 Chromosome 11, 17496508: 17496508
18 ABCC8 NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys) single nucleotide variant Pathogenic rs80356651 GRCh37 Chromosome 11, 17474698: 17474698
19 ABCC8 NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr) single nucleotide variant Pathogenic rs193929369 GRCh37 Chromosome 11, 17426062: 17426062
20 ABCC8 NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs267606623 GRCh37 Chromosome 11, 17498190: 17498190
21 ABCC8 NM_000352.4(ABCC8): c.257T> G (p.Val86Gly) single nucleotide variant Pathogenic rs193929360 GRCh37 Chromosome 11, 17496466: 17496466
22 INS NM_000207.2(INS): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs80356671 GRCh37 Chromosome 11, 2181128: 2181128
23 INS NM_000207.2(INS): c.71C> A (p.Ala24Asp) single nucleotide variant Pathogenic rs80356663 GRCh37 Chromosome 11, 2182131: 2182131
24 INS NM_000207.2(INS): c.143T> G (p.Phe48Cys) single nucleotide variant Pathogenic rs80356668 GRCh37 Chromosome 11, 2182059: 2182059
25 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
26 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh37 Chromosome 7, 44189409: 44189409
27 GCK NM_000162.3(GCK): c.1019+2T> G single nucleotide variant Pathogenic rs193929376 GRCh37 Chromosome 7, 44186060: 44186060
28 GCK NM_000162.3(GCK): c.1133C> T (p.Ala378Val) single nucleotide variant Pathogenic rs193929374 GRCh37 Chromosome 7, 44185216: 44185216
29 GCK NM_000162.3(GCK): c.1190G> T (p.Arg397Leu) single nucleotide variant Pathogenic/Likely pathogenic rs193929375 GRCh37 Chromosome 7, 44185159: 44185159
30 GCK NM_000162.3(GCK): c.790G> A (p.Gly264Ser) single nucleotide variant Pathogenic rs193929373 GRCh37 Chromosome 7, 44187322: 44187322
31 INS NM_000207.2(INS): c.127T> G (p.Cys43Gly) single nucleotide variant Pathogenic rs80356666 GRCh37 Chromosome 11, 2182075: 2182075
32 INS NM_000207.2(INS): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs80356667 GRCh37 Chromosome 11, 2182062: 2182062
33 INS NM_000207.2(INS): c.265C> T (p.Arg89Cys) single nucleotide variant Pathogenic rs80356669 GRCh37 Chromosome 11, 2181150: 2181150
34 INS NM_000207.2(INS): c.268G> T (p.Gly90Cys) single nucleotide variant Pathogenic rs80356670 GRCh37 Chromosome 11, 2181147: 2181147
35 INS NM_000207.2(INS): c.323A> G (p.Tyr108Cys) single nucleotide variant Pathogenic rs80356672 GRCh37 Chromosome 11, 2181092: 2181092
36 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
37 INS NM_000207.2(INS): c.94G> C (p.Gly32Arg) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
38 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
39 ABCC8 NM_000352.4(ABCC8): c.257T> C (p.Val86Ala) single nucleotide variant Pathogenic rs193929360 GRCh37 Chromosome 11, 17496466: 17496466
40 ABCC8 NM_000352.4(ABCC8): c.394T> G (p.Phe132Val) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
41 ABCC8 NM_000352.4(ABCC8): c.404T> C (p.Leu135Pro) single nucleotide variant Pathogenic rs193929364 GRCh37 Chromosome 11, 17491656: 17491656
42 ABCC8 NM_000352.4(ABCC8): c.627C> A (p.Asp209Glu) single nucleotide variant Pathogenic rs80356640 GRCh37 Chromosome 11, 17483325: 17483325
43 ABCC8 NM_000352.4(ABCC8): c.631C> A (p.Gln211Lys) single nucleotide variant Pathogenic rs193929366 GRCh37 Chromosome 11, 17483321: 17483321
44 ABCC8 NM_000352.4(ABCC8): c.674T> C (p.Leu225Pro) single nucleotide variant Pathogenic rs1048095 GRCh37 Chromosome 11, 17483278: 17483278
45 KCNJ11 NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic rs193929358 GRCh37 Chromosome 11, 17408638: 17408638
46 KCNJ11 NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu) single nucleotide variant Pathogenic rs193929333 GRCh37 Chromosome 11, 17409536: 17409536
47 KCNJ11 NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val) single nucleotide variant Pathogenic rs193929333 GRCh37 Chromosome 11, 17409536: 17409536
48 KCNJ11 NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg) single nucleotide variant Pathogenic rs193929337 GRCh37 Chromosome 11, 17409484: 17409484
49 KCNJ11 NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr) single nucleotide variant Pathogenic rs80356618 GRCh37 Chromosome 11, 17409142: 17409142
50 KCNJ11 NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val) single nucleotide variant Pathogenic rs193929348 GRCh37 Chromosome 11, 17409095: 17409095

Expression for Diabetes Mellitus, Permanent Neonatal

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

Pathways for Diabetes Mellitus, Permanent Neonatal

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

36
# Name Kegg Source Accession
1 Type II diabetes mellitus hsa04930
2 Maturity onset diabetes of the young hsa04950
3 Insulin signaling pathway hsa04910

GO Terms for Diabetes Mellitus, Permanent Neonatal

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.93 GATA6 GLIS3 PDX1 PTF1A STAT3
2 response to drug GO:0042493 9.83 ABCC8 GATA6 KCNJ11 STAT3
3 glucose homeostasis GO:0042593 9.56 GCK INS PDX1 STAT3
4 positive regulation of protein localization to nucleus GO:1900182 9.55 EIF2AK3 INS
5 cellular glucose homeostasis GO:0001678 9.51 ABCC8 GCK
6 pancreas development GO:0031016 9.5 GATA6 PDX1 PTF1A
7 positive regulation of glycogen biosynthetic process GO:0045725 9.49 GCK INS
8 negative regulation of gluconeogenesis GO:0045721 9.48 GCK INS
9 cellular response to leptin stimulus GO:0044320 9.46 GCK STAT3
10 exocrine pancreas development GO:0031017 9.43 PDX1 PTF1A
11 type B pancreatic cell differentiation GO:0003309 9.4 GATA6 PDX1
12 detection of glucose GO:0051594 9.37 GCK PDX1
13 endocrine pancreas development GO:0031018 9.33 EIF2AK3 MNX1 PDX1
14 regulation of insulin secretion GO:0050796 9.26 ABCC8 GCK KCNJ11 SYT9
15 glucose metabolic process GO:0006006 8.92 GCK INS KCNJ11 PDX1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.35 GATA6 MNX1 PDX1 PTF1A STAT3
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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