MCID: DBT083
MIFTS: 60

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 57 75 13 73
Permanent Neonatal Diabetes Mellitus 12 24 53 25 59 37 29 6 15
Pndm 57 12 53 25 59 75
Permanent Diabetes Mellitus of Infancy 12 53 75
Pdmi 57 12 75
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 29 6
Developmental Delay, Epilepsy, and Neonatal Diabetes 29 73
Dend Syndrome 59 6
Diabetes, Permanent Neonatal, with or Without Neurologic Features 57
Diabetes Mellitus Permanent Neonatal with Neurologic Features 75
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 59
Developmental Delay Epilepsy and Neonatal Diabetes 75
Diabetes Mellitus, Permanent, of Infancy; Pdmi 57
Diabetes Mellitus, Permanent, of Infancy 57
Neonatal Diabetes Mellitus, Permanent 76
Monogenic Diabetes of Infancy 59
Dend 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
diabetes mellitus, permanent neonatal:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 57 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 neonatal diabetes mellitus, and has symptoms including seizures and muscle weakness. 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 seizures and ataxia

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 : 25 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 : 53 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).

UniProtKB/Swiss-Prot : 75 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 : 76 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 35)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.8 ABCC8 EIF2AK3 IER3IP1 KCNJ11
2 neonatal diabetes mellitus 28.9 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
3 diabetes mellitus 28.2 ABCC8 GATA6 GCK GLIS3 INS INS-IGF2
4 intermediate dend syndrome 12.1
5 pancreatic and cerebellar agenesis 11.6
6 maturity-onset diabetes of the young, type 10 10.7 INS INS-IGF2
7 diabetes mellitus, insulin-dependent, 2 10.7 INS INS-IGF2
8 maturity-onset diabetes of the young, type 2 10.7 GCK INS
9 munchausen by proxy 10.7 ABCC8 GCK KCNJ11
10 hyperinsulinemic hypoglycemia, familial, 2 10.6 ABCC8 INS KCNJ11
11 type 1 diabetes mellitus 2 10.6 INS INS-IGF2
12 acute insulin response 10.6 ABCC8 INS KCNJ11
13 cardiomyopathy, dilated, 1o 10.6 ABCC8 KCNJ11
14 segawa syndrome, autosomal recessive 10.6 INS INS-IGF2
15 pancreas disease 10.6 ABCC8 INS KCNJ11
16 diabetes mellitus, transient neonatal, 1 10.6 ABCC8 INS KCNJ11
17 fanconi-bickel syndrome 10.5 ABCC8 INS
18 gestational diabetes 10.5 GCK INS KCNJ11
19 factitious disorder 10.5 ABCC8 GCK INS KCNJ11
20 endocrine pancreas disease 10.4 ABCC8 GCK INS KCNJ11
21 hyperinsulinemic hypoglycemia 10.4 ABCC8 GCK INS KCNJ11
22 hyperinsulinism 10.4 ABCC8 GCK INS KCNJ11
23 hypoglycemia 10.4 ABCC8 GCK INS KCNJ11
24 insulinoma 10.3 ABCC8 GCK INS PDX1
25 acquired metabolic disease 10.3 GCK IER3IP1 INS KCNJ11
26 hyperproinsulinemia 10.3 INS INS-IGF2
27 monogenic diabetes 10.2 ABCC8 GCK INS KCNJ11 PDX1
28 diabetes mellitus, insulin-dependent 10.2 GCK INS INS-IGF2 PDX1
29 hyperglycemia 10.1 ABCC8 GCK INS KCNJ11 PDX1
30 glucose metabolism disease 10.1 ABCC8 GCK IER3IP1 INS KCNJ11
31 epilepsy 10.1
32 intestinal atresia 10.0 GCK PDX1
33 maturity-onset diabetes of the young 9.9 ABCC8 GCK INS INS-IGF2 KCNJ11 PDX1
34 diabetes mellitus, noninsulin-dependent 9.8 ABCC8 GCK INS KCNJ11 PDX1
35 pancreatic agenesis 9.4 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:

57
Skeletal Hands:
clinodactyly

Endocrine Features:
diabetes mellitus

Muscle Soft Tissue:
muscle weakness

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

Head And Neck Eyes:
ptosis

Neurologic Central Nervous System:
seizures
motor delay
hypsarrhythmia
developmental delay
axial hypotonia
more
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:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
9 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
10 renal tubular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000124
11 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
12 dehydration 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001944
13 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
14 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
15 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
16 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
17 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
18 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
21 arthrogryposis multiplex congenita 59 32 frequent (33%) Frequent (79-30%) HP:0002804
22 apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002186
23 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002714
24 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
25 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
26 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0005487
27 mild global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0011342
28 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
29 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
30 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
31 abnormal heart morphology 59 32 frequent (33%) Frequent (79-30%) HP:0001627
32 bilateral ptosis 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001488
33 ketonuria 59 32 frequent (33%) Frequent (79-30%) HP:0002919
34 hyperglycemia 59 32 obligate (100%) Obligate (100%),Very frequent (99-80%) HP:0003074
35 pancreatic hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002594
36 reduced pancreatic beta cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0006274
37 neonatal insulin-dependent diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000857
38 peripheral axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003477
39 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
40 elevated hemoglobin a1c 59 32 hallmark (90%) Very frequent (99-80%) HP:0040217
41 thickened ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0009894
42 clinodactyly of the 4th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0040025
43 contractures of the joints of the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0005750
44 microalbuminuria 59 32 frequent (33%) Frequent (79-30%) HP:0012594
45 clinodactyly 32 HP:0030084
46 ptosis 32 HP:0000508
47 diabetes mellitus 32 HP:0000819
48 intellectual disability 59 Frequent (79-30%)
49 neurodevelopmental delay 59 Frequent (79-30%)
50 abnormality of the upper urinary tract 59 Occasional (29-5%)

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:


seizures, muscle weakness

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ABCC8 EIF2AK3 GATA6 GCK GLIS3 INS
2 endocrine/exocrine gland MP:0005379 9.96 PTF1A SLC19A2 STAT3 ABCC8 EIF2AK3 GCK
3 liver/biliary system MP:0005370 9.56 EIF2AK3 GATA6 GCK INS PDX1 PPT1
4 no phenotypic analysis MP:0003012 9.17 PDX1 PTF1A ABCC8 EIF2AK3 GLIS3 INS

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 29 ABCC8 GCK INS KCNJ11 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 29
3 Developmental Delay, Epilepsy, and Neonatal Diabetes 29

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

41
Pancreas, Heart

Publications for Diabetes Mellitus, Permanent Neonatal

Articles related to Diabetes Mellitus, Permanent Neonatal:

(show all 50)
# 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
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. ( 29521454 )
2018
3
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
4
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. ( 28371426 )
2017
5
[Permanent neonatal diabetes mellitus in a young Ukrainian child]. ( 28633163 )
2016
6
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. ( 26388896 )
2015
7
Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa. ( 26958039 )
2015
8
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
9
Permanent neonatal diabetes mellitus in Jordan. ( 24825091 )
2014
10
Permanent neonatal diabetes mellitus in China. ( 25052923 )
2014
11
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. ( 24468099 )
2014
12
Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report. ( 24618446 )
2014
13
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases. ( 25131821 )
2014
14
Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy. ( 23959658 )
2014
15
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. ( 23050777 )
2013
16
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
17
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation. ( 24130952 )
2013
18
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. ( 24150202 )
2013
19
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. ( 24168455 )
2013
20
Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus. ( 24843665 )
2013
21
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. ( 22060631 )
2012
22
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. ( 22768671 )
2012
23
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. ( 21910811 )
2012
24
Permanent neonatal diabetes mellitus. ( 23569512 )
2012
25
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. ( 22672870 )
2012
26
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. ( 22815030 )
2012
27
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. ( 22306677 )
2012
28
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. ( 21518409 )
2011
29
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. ( 21054355 )
2011
30
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. ( 21352428 )
2011
31
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. ( 21823539 )
2011
32
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
33
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. ( 19774848 )
2009
34
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. ( 19247925 )
2009
35
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. ( 18981553 )
2008
36
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
37
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. ( 18571549 )
2008
38
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). ( 17317760 )
2007
39
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
40
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
41
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. ( 17491708 )
2006
42
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. ( 15531505 )
2004
43
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. ( 14976569 )
2003
44
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. ( 10617703 )
2000
45
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. ( 10212083 )
1999
46
Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. ( 10798084 )
1999
47
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
48
Permanent Neonatal Diabetes Mellitus ( 20301620 )
1993
49
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. ( 1537364 )
1992
50
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:

75 (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 384)
# 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.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh38 Chromosome 11, 17387490: 17387490
3 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh37 Chromosome 11, 17409464: 17409464
4 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh38 Chromosome 11, 17387917: 17387917
5 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh37 Chromosome 11, 17409038: 17409038
6 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh38 Chromosome 11, 17387491: 17387491
7 KCNJ11 NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic rs80356617 GRCh37 Chromosome 11, 17409463: 17409463
8 KCNJ11 NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic rs80356617 GRCh38 Chromosome 11, 17387916: 17387916
9 KCNJ11 NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro) single nucleotide variant Pathogenic rs80356611 GRCh37 Chromosome 11, 17409490: 17409490
10 KCNJ11 NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro) single nucleotide variant Pathogenic rs80356611 GRCh38 Chromosome 11, 17387943: 17387943
11 KCNJ11 NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg) single nucleotide variant Pathogenic rs80356621 GRCh37 Chromosome 11, 17409130: 17409130
12 KCNJ11 NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg) single nucleotide variant Pathogenic rs80356621 GRCh38 Chromosome 11, 17387583: 17387583
13 KCNJ11 NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn) single nucleotide variant Pathogenic rs80356622 GRCh37 Chromosome 11, 17409129: 17409129
14 KCNJ11 NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn) single nucleotide variant Pathogenic rs80356622 GRCh38 Chromosome 11, 17387582: 17387582
15 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
16 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh38 Chromosome 11, 17387968: 17387968
17 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
18 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
19 KCNJ11 NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs80356618 GRCh37 Chromosome 11, 17409142: 17409142
20 KCNJ11 NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs80356618 GRCh38 Chromosome 11, 17387595: 17387595
21 KCNJ11 NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu) single nucleotide variant Pathogenic rs80356620 GRCh37 Chromosome 11, 17409140: 17409140
22 KCNJ11 NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu) single nucleotide variant Pathogenic rs80356620 GRCh38 Chromosome 11, 17387593: 17387593
23 KCNJ11 NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp) single nucleotide variant Pathogenic rs80356615 GRCh37 Chromosome 11, 17409481: 17409481
24 KCNJ11 NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp) single nucleotide variant Pathogenic rs80356615 GRCh38 Chromosome 11, 17387934: 17387934
25 ABCC8 NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
26 ABCC8 NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu) single nucleotide variant Pathogenic rs80356637 GRCh38 Chromosome 11, 17470119: 17470119
27 ABCC8 NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg) single nucleotide variant Pathogenic rs80356642 GRCh37 Chromosome 11, 17483314: 17483314
28 ABCC8 NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg) single nucleotide variant Pathogenic rs80356642 GRCh38 Chromosome 11, 17461767: 17461767
29 ABCC8 NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val) single nucleotide variant Pathogenic rs80356653 GRCh37 Chromosome 11, 17417194: 17417194
30 ABCC8 NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val) single nucleotide variant Pathogenic rs80356653 GRCh38 Chromosome 11, 17395647: 17395647
31 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
32 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
33 ABCC8 NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser) single nucleotide variant Pathogenic rs80356634 GRCh37 Chromosome 11, 17496508: 17496508
34 ABCC8 NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser) single nucleotide variant Pathogenic rs80356634 GRCh38 Chromosome 11, 17474961: 17474961
35 ABCC8 NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys) single nucleotide variant Pathogenic rs80356651 GRCh37 Chromosome 11, 17474698: 17474698
36 ABCC8 NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys) single nucleotide variant Pathogenic rs80356651 GRCh38 Chromosome 11, 17453151: 17453151
37 ABCC8 NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr) single nucleotide variant Pathogenic rs193929369 GRCh37 Chromosome 11, 17426062: 17426062
38 ABCC8 NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr) single nucleotide variant Pathogenic rs193929369 GRCh38 Chromosome 11, 17404515: 17404515
39 ABCC8 NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs267606623 GRCh37 Chromosome 11, 17498190: 17498190
40 ABCC8 NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs267606623 GRCh38 Chromosome 11, 17476643: 17476643
41 ABCC8 NM_000352.4(ABCC8): c.257T> G (p.Val86Gly) single nucleotide variant Pathogenic rs193929360 GRCh37 Chromosome 11, 17496466: 17496466
42 ABCC8 NM_000352.4(ABCC8): c.257T> G (p.Val86Gly) single nucleotide variant Pathogenic rs193929360 GRCh38 Chromosome 11, 17474919: 17474919
43 INS NM_000207.2(INS): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs80356671 GRCh37 Chromosome 11, 2181128: 2181128
44 INS NM_000207.2(INS): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs80356671 GRCh38 Chromosome 11, 2159898: 2159898
45 INS NM_000207.2(INS): c.71C> A (p.Ala24Asp) single nucleotide variant Pathogenic rs80356663 GRCh37 Chromosome 11, 2182131: 2182131
46 INS NM_000207.2(INS): c.71C> A (p.Ala24Asp) single nucleotide variant Pathogenic rs80356663 GRCh38 Chromosome 11, 2160901: 2160901
47 INS NM_000207.2(INS): c.143T> G (p.Phe48Cys) single nucleotide variant Pathogenic rs80356668 GRCh37 Chromosome 11, 2182059: 2182059
48 INS NM_000207.2(INS): c.143T> G (p.Phe48Cys) single nucleotide variant Pathogenic rs80356668 GRCh38 Chromosome 11, 2160829: 2160829
49 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
50 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh38 Chromosome 7, 44147830: 44147830

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:

37
# 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 9.95 GATA6 GLIS3 PDX1 PTF1A STAT3
2 negative regulation of apoptotic process GO:0043066 9.89 GATA6 INS INS-IGF2 PPT1 STAT3
3 response to drug GO:0042493 9.84 ABCC8 GATA6 KCNJ11 STAT3
4 response to organic substance GO:0010033 9.65 INS INS-IGF2 STAT3
5 positive regulation of insulin receptor signaling pathway GO:0046628 9.52 INS INS-IGF2
6 positive regulation of glycogen biosynthetic process GO:0045725 9.51 GCK INS
7 negative regulation of gluconeogenesis GO:0045721 9.46 GCK INS
8 regulation of insulin secretion GO:0050796 9.46 ABCC8 GCK KCNJ11 SYT9
9 cellular response to leptin stimulus GO:0044320 9.43 GCK STAT3
10 pancreas development GO:0031016 9.43 GATA6 PDX1 PTF1A
11 exocrine pancreas development GO:0031017 9.4 PDX1 PTF1A
12 type B pancreatic cell differentiation GO:0003309 9.37 GATA6 PDX1
13 detection of glucose GO:0051594 9.32 GCK PDX1
14 glucose metabolic process GO:0006006 9.26 GCK INS KCNJ11 PDX1
15 glucose homeostasis GO:0042593 9.02 GCK INS INS-IGF2 PDX1 STAT3

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.26 INS INS-IGF2
2 insulin-like growth factor receptor binding GO:0005159 9.16 INS INS-IGF2
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11
4 receptor activator activity GO:0030546 8.62 INS INS-IGF2

Sources for Diabetes Mellitus, Permanent Neonatal

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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