PNDM
MCID: PRM030
MIFTS: 63

Permanent Neonatal Diabetes Mellitus (PNDM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Permanent Neonatal Diabetes Mellitus

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OMIM:46 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a... (606176) more...

MalaCards based summary: Permanent Neonatal Diabetes Mellitus, also known as permanent diabetes mellitus of infancy, is related to pancreatic agenesis and neonatal diabetes mellitus, and has symptoms including autosomal dominant inheritance, long philtrum and anteverted nares. An important gene associated with Permanent Neonatal Diabetes Mellitus is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Development Leptin signaling via PI3K dependent pathway and Potassium transporters inward current. The compounds cibenzoline and levosimendan have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are no phenotypic analysis and homeostasis/metabolism.

NIH Rare Diseases:42 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

Genetics Home Reference:22 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.

Wikipedia:64 A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused... more...

GeneReviews summary for dmn

Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

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Permanent Neonatal Diabetes Mellitus, Aliases & Descriptions:

Name: Permanent Neonatal Diabetes Mellitus 20 42 21 23 22 48
Permanent Diabetes Mellitus of Infancy 20 42 61
Pndm 42 22 48
Diabetes Mellitus, Permanent Neonatal 46 61
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 48
Diabetes, Permanent Neonatal 46
Dend Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
developmental delay-epilepsy-neonatal diabetes syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
permanent neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 606176
ICD10 via Orphanet27 P70.2

Related Diseases for Permanent Neonatal Diabetes Mellitus

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Diseases in the Permanent Neonatal Diabetes Mellitus family:

Abcc8-Related Permanent Neonatal Diabetes Mellitus Gck-Related Permanent Neonatal Diabetes Mellitus
Kcnj11-Related Permanent Neonatal Diabetes Mellitus Pdx1-Related Permanent Neonatal Diabetes Mellitus
Ins-Related Permanent Neonatal Diabetes Mellitus

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic agenesis31.3PDX1
2neonatal diabetes mellitus30.5ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
3diabetes mellitus30.5ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
4diabetes mellitus, permanent neonatal, with cerebellar agenesis10.5
5intermediate dend syndrome10.5
6abcc8-related permanent neonatal diabetes mellitus10.4
7gck-related permanent neonatal diabetes mellitus10.4
8kcnj11-related permanent neonatal diabetes mellitus10.4
9pdx1-related permanent neonatal diabetes mellitus10.4
10ins-related permanent neonatal diabetes mellitus10.4
11diabetes mellitus, permanent neonatal, with neurologic features10.4
12diabetic ketoacidosis10.3
13pancreatitis10.3
14pancreatic and cerebellar agenesis10.3
15hyperinsulinemic hypoglycemia10.1ABCC8, INS
16type 1 diabetes mellitus10.0GCK, INS
17familial hyperinsulinism10.0ABCC8, KCNJ11, GCK
18hyperuricemia10.0GCK, INS
19hyperammonemia multi-gene panels10.0ABCC8, KCNJ11, GCK
20glucose intolerance9.9GCK, PDX1, INS
21hypercholesterolemia9.9PDX1, INS
22coronary artery anomaly9.9KCNJ5, ABCC8
23cystic fibrosis9.9INS, KCNJ11, ABCC8
24metabolic syndrome x9.9GCK, INS, ABCC8
25epilepsy syndrome9.8ABCC8, KCNJ5, KCNJ11
26maturity-onset diabetes of the young9.8GCK, PDX1, INS, KCNJ11
27insulin resistance9.8ABCC8, INS, GCK
28gestational diabetes9.7ABCC8, KCNJ11, INS, GCK
29ischemia9.6GCK, KCNJ5, ABCC8
30hyperglycemia9.6GCK, PDX1, INS, KCNJ11, ABCC8
31hyperinsulinism9.4GCK, INS, KCNJ11, KCNJ5, ABCC8
32hypoglycemia9.4ABCC8, KCNJ5, KCNJ11, INS, GCK
33obesity9.4ABCC8, KCNJ5, KCNJ11, INS, GCK
34insulinoma9.2ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
35type 2 diabetes mellitus9.0ABCC8, KCNJ5, KCNJ11, INS, IDDM2, PDX1

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



Diseases related to permanent neonatal diabetes mellitus

Symptoms for Permanent Neonatal Diabetes Mellitus

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Symptoms by clinical synopsis from OMIM:

606176

Clinical features from OMIM:

606176

HPO human phenotypes related to Permanent Neonatal Diabetes Mellitus:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 long philtrum HP:0000343
3 anteverted nares HP:0000463
4 ptosis HP:0000508
5 abnormality of the ear HP:0000598
6 diabetes mellitus HP:0000819
7 seizures HP:0001250
8 global developmental delay HP:0001263
9 motor delay HP:0001270
10 muscle weakness HP:0001324
11 intrauterine growth retardation HP:0001511
12 small for gestational age HP:0001518
13 ketoacidosis HP:0001993
14 hypsarrhythmia HP:0002521
15 downturned corners of mouth HP:0002714
16 abnormality of the immune system HP:0002715
17 hyperglycemia HP:0003074
18 limb joint contracture HP:0003121
19 short nose HP:0003196
20 prominent metopic ridge HP:0005487
21 beta-cell dysfunction HP:0006279
22 muscular hypotonia of the trunk HP:0008936
23 radial deviation of finger HP:0009466
24 peripheral neuropathy HP:0009830
25 clinodactyly HP:0030084

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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Drug clinical trials:

Search ClinicalTrials for Permanent Neonatal Diabetes Mellitus

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

Genetic Tests for Permanent Neonatal Diabetes Mellitus

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Genetic tests related to Permanent Neonatal Diabetes Mellitus:

id Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus21 23 PDX1

Anatomical Context for Permanent Neonatal Diabetes Mellitus

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MalaCards organs/tissues related to Permanent Neonatal Diabetes Mellitus:

32
Pancreas

Animal Models for Permanent Neonatal Diabetes Mellitus or affiliated genes

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MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.0ABCC8, KCNJ11, INS, PDX1
2MP:00053767.9GCK, PDX1, INS, KCNJ11, ABCC8
3MP:00053797.8GCK, PDX1, INS, KCNJ11, ABCC8

Publications for Permanent Neonatal Diabetes Mellitus

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Articles related to Permanent Neonatal Diabetes Mellitus:

(show all 41)
idTitleAuthorsYear
1
Permanent neonatal diabetes mellitus in Jordan. (24825091)
2014
2
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. (24468099)
2014
3
Permanent neonatal diabetes mellitus in China. (25052923)
2014
4
Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy. (23959658)
2014
5
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases. (25131821)
2014
6
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
7
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. (23050777)
2013
8
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation. (24130952)
2013
9
Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus. (24843665)
2013
10
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. (24168455)
2013
11
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. (24150202)
2013
12
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
13
Permanent neonatal diabetes mellitus. (23569512)
2012
14
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. (22306677)
2012
15
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. (21910811)
2012
16
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. (22672870)
2012
17
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. (22768671)
2012
18
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. (22060631)
2012
19
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. (21823539)
2011
20
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
21
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. (21518409)
2011
22
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. (21352428)
2011
23
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
24
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. (19247925)
2009
25
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. (19774848)
2009
26
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
27
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. (18571549)
2008
28
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. (18981553)
2008
29
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
30
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). (17317760)
2007
31
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. (17491708)
2006
32
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
33
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. (15531505)
2004
34
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. (14976569)
2003
35
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. (10617703)
2000
36
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. (10212083)
1999
37
Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. (10798084)
1999
38
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
39
Permanent Neonatal Diabetes Mellitus (20301620)
1993
40
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. (1537364)
1992
41
Permanent neonatal diabetes mellitus: a case report with plasma insulin studies. (1130120)
1975

Variations for Permanent Neonatal Diabetes Mellitus

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

63 (show all 41)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Leu213ArgVAR_029779
3ABCC8p.Ile1424ValVAR_029787
4ABCC8p.Val86AlaVAR_031354
5INSp.Ala24AspVAR_063723rs80356663
6INSp.His29AspVAR_063724rs121908272
7INSp.Gly32ArgVAR_063725rs80356664
8INSp.Gly32SerVAR_063726rs80356664
9INSp.Leu35ProVAR_063727rs121908273
10INSp.Cys43GlyVAR_063728rs80356666
11INSp.Gly47ValVAR_063730rs80356667
12INSp.Phe48CysVAR_063731rs80356668
13INSp.Arg89CysVAR_063735rs80356669
14INSp.Gly90CysVAR_063736rs80356670
15INSp.Cys96SerVAR_063737rs80356671
16INSp.Cys96TyrVAR_063738rs80356671
17INSp.Ser101CysVAR_063739rs121908276
18INSp.Tyr103CysVAR_063740rs121908277
19INSp.Tyr108CysVAR_063741rs80356672
20KCNJ11p.Phe35LeuVAR_026498
21KCNJ11p.Phe35ValVAR_026499
22KCNJ11p.Arg50ProVAR_026500
23KCNJ11p.Gln52ArgVAR_026501
24KCNJ11p.Val59GlyVAR_026504
25KCNJ11p.Val59MetVAR_026505
26KCNJ11p.Lys170AsnVAR_026508
27KCNJ11p.Lys170ArgVAR_026509
28KCNJ11p.Arg201CysVAR_026511
29KCNJ11p.Arg201HisVAR_026512
30KCNJ11p.Ile296LeuVAR_026514
31KCNJ11p.Glu322LysVAR_026515
32KCNJ11p.Tyr330CysVAR_026516
33KCNJ11p.Phe333IleVAR_026517
34KCNJ11p.His46TyrVAR_031332
35KCNJ11p.Arg50GlnVAR_031333
36KCNJ11p.Gly53AspVAR_031334
37KCNJ11p.Leu164ProVAR_031341
38KCNJ11p.Cys166TyrVAR_031342
39KCNJ11p.Lys170ThrVAR_031343
40KCNJ11p.Arg201LeuVAR_031344
41KCNJ11p.Tyr330SerVAR_031348

Clinvar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

7 (show all 65)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000207.2(INS): c.287G> A (p.Cys96Tyr)single nucleotide variantPathogenicrs80356671GRCh37Chr 11, 2181128: 2181128
2NM_000207.2(INS): c.71C> A (p.Ala24Asp)single nucleotide variantPathogenicrs80356663GRCh37Chr 11, 2182131: 2182131
3NM_000207.2(INS): c.143T> G (p.Phe48Cys)single nucleotide variantPathogenicrs80356668GRCh37Chr 11, 2182059: 2182059
4GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)single nucleotide variantPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
5GCKNM_000162.3(GCK): c.629T> A (p.Met210Lys)single nucleotide variantPathogenicrs80356654GRCh37Chr 7, 44189409: 44189409
6GCKNM_000162.3(GCK): c.1019+2T> Gsingle nucleotide variantPathogenicrs193929376GRCh37Chr 7, 44186060: 44186060
7GCKNM_000162.3(GCK): c.1133C> T (p.Ala378Val)single nucleotide variantPathogenicrs193929374GRCh37Chr 7, 44185216: 44185216
8GCKNM_000162.3(GCK): c.1190G> T (p.Arg397Leu)single nucleotide variantPathogenicrs193929375GRCh37Chr 7, 44185159: 44185159
9GCKNM_000162.3(GCK): c.790G> A (p.Gly264Ser)single nucleotide variantPathogenicrs193929373GRCh37Chr 7, 44187322: 44187322
10NM_000207.2(INS): c.127T> G (p.Cys43Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356666GRCh37Chr 11, 2182075: 2182075
11NM_000207.2(INS): c.140G> T (p.Gly47Val)single nucleotide variantPathogenicrs80356667GRCh37Chr 11, 2182062: 2182062
12NM_000207.2(INS): c.265C> T (p.Arg89Cys)single nucleotide variantPathogenicrs80356669GRCh37Chr 11, 2181150: 2181150
13NM_000207.2(INS): c.268G> T (p.Gly90Cys)single nucleotide variantPathogenicrs80356670GRCh37Chr 11, 2181147: 2181147
14NM_000207.2(INS): c.323A> G (p.Tyr108Cys)single nucleotide variantPathogenicrs80356672GRCh37Chr 11, 2181092: 2181092
15NM_000207.2(INS): c.94G> A (p.Gly32Ser)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
16NM_000207.2(INS): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
17PDX1NM_000209.3(PDX1): c.188delC (p.Pro63Argfs)deletionPathogenicrs193929377GRCh37Chr 13, 28494463: 28494463
18ABCC8NM_001287174.1(ABCC8): c.257T> C (p.Val86Ala)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466
19ABCC8NM_001287174.1(ABCC8): c.394T> G (p.Phe132Val)single nucleotide variantLikely pathogenic, Pathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
20ABCC8NM_001287174.1(ABCC8): c.404T> C (p.Leu135Pro)single nucleotide variantPathogenicrs193929364GRCh37Chr 11, 17491656: 17491656
21ABCC8NM_001287174.1(ABCC8): c.627C> A (p.Asp209Glu)single nucleotide variantPathogenicrs80356640GRCh37Chr 11, 17483325: 17483325
22ABCC8NM_001287174.1(ABCC8): c.631C> A (p.Gln211Lys)single nucleotide variantPathogenicrs193929366GRCh37Chr 11, 17483321: 17483321
23ABCC8NM_001287174.1(ABCC8): c.674T> C (p.Leu225Pro)single nucleotide variantPathogenicrs1048095GRCh37Chr 11, 17483278: 17483278
24KCNJ11NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs193929358GRCh37Chr 11, 17408638: 17408638
25KCNJ11NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
26KCNJ11NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
27KCNJ11NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg)single nucleotide variantPathogenicrs193929337GRCh37Chr 11, 17409484: 17409484
28KCNJ11NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
29KCNJ11NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val)single nucleotide variantPathogenicrs193929348GRCh37Chr 11, 17409095: 17409095
30KCNJ11NM_000525.3(KCNJ11): c.602G> T (p.Arg201Leu)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
31KCNJ11NM_000525.3(KCNJ11): c.755T> C (p.Val252Ala)single nucleotide variantPathogenicrs193929352GRCh37Chr 11, 17408884: 17408884
32KCNJ11NM_000525.3(KCNJ11): c.886A> C (p.Ile296Leu)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
33KCNJ11NM_000525.3(KCNJ11): c.886A> G (p.Ile296Val)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
34KCNJ11NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys)single nucleotide variantPathogenicrs193929355GRCh37Chr 11, 17408675: 17408675
35KCNJ11NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys)single nucleotide variantPathogenicrs193929356GRCh37Chr 11, 17408650: 17408650
36KCNJ11NM_000525.3(KCNJ11): c.997T> A (p.Phe333Ile)single nucleotide variantPathogenicrs193929357GRCh37Chr 11, 17408642: 17408642
37NM_000207.2(INS): c.*59A> Gsingle nucleotide variantPathogenicrs397515519GRCh37Chr 11, 2181023: 2181023
38INSNM_000207.2(INS): c.-218A> Csingle nucleotide variantPathogenicrs397515520GRCh37Chr 11, 2182598: 2182598
39INSNM_000207.2: c.-331C> Asingle nucleotide variantPathogenic
40INSNM_000207.2: c.-331C> Gsingle nucleotide variantPathogenic
41INSNM_000207.2(INS): c.-366_343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
42INSNM_000207.2: c.-370-?186+?deldeletionPathogenic
43NM_000207.2(INS): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
44NM_000207.2(INS): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
45KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
46KCNJ11NM_000525.3(KCNJ11): c.175G> A (p.Val59Met)single nucleotide variantPathogenicrs80356616GRCh37Chr 11, 17409464: 17409464
47KCNJ11NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs80356625GRCh37Chr 11, 17409038: 17409038
48KCNJ11NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly)single nucleotide variantPathogenicrs80356617GRCh37Chr 11, 17409463: 17409463
49KCNJ11NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro)single nucleotide variantPathogenicrs80356611GRCh37Chr 11, 17409490: 17409490
50KCNJ11NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg)single nucleotide variantPathogenicrs80356621GRCh37Chr 11, 17409130: 17409130
51KCNJ11NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn)single nucleotide variantPathogenicrs80356622GRCh37Chr 11, 17409129: 17409129
52KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
53KCNJ11NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu)single nucleotide variantdrug response, risk factorrs5219GRCh37Chr 11, 17409572: 17409572
54KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
55KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
56KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
57ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
58ABCC8NM_001287174.1(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
59ABCC8NM_001287174.1(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
60ABCC8NM_001287174.1(ABCC8): c.4273A> G (p.Ile1425Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
61ABCC8NM_001287174.1(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
62ABCC8NM_001287174.1(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
63ABCC8NM_001287174.1(ABCC8): c.3557C> A (p.Ser1186Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
64ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
65ABCC8NM_001287174.1(ABCC8): c.257T> G (p.Val86Gly)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466

Expression for genes affiliated with Permanent Neonatal Diabetes Mellitus

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Expression patterns in normal tissues for genes affiliated with Permanent Neonatal Diabetes Mellitus

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

Pathways for genes affiliated with Permanent Neonatal Diabetes Mellitus

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Pathways related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ABCC8, KCNJ11
29.6KCNJ11, KCNJ5
3
Show member pathways
9.5INS, GCK
49.1PDX1, INS
5
Show member pathways
9.1ABCC8, KCNJ11, INS
6
Show member pathways
9.1ABCC8, KCNJ5, KCNJ11
7
Show member pathways
9.1ABCC8, KCNJ5, KCNJ11
89.1KCNJ11, KCNJ5, ABCC8
9
Show member pathways
9.1KCNJ11, KCNJ5, ABCC8
10
Show member pathways
8.7GCK, PDX1, INS
11
Show member pathways
8.7INS, PDX1, GCK
12
Show member pathways
8.7GCK, INS, KCNJ11, ABCC8
13
Show member pathways
7.9ABCC8, KCNJ11, INS, PDX1, GCK
147.9GCK, PDX1, INS, KCNJ11, ABCC8
15
Show member pathways
7.9ABCC8, KCNJ11, INS, PDX1, GCK

Compounds for genes affiliated with Permanent Neonatal Diabetes Mellitus

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Compounds related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.0KCNJ11, ABCC8
2levosimendan44 1210.9KCNJ5, KCNJ11
3chromium picolinate449.9INS, GCK
4levcromakalim609.9KCNJ5, KCNJ11
5benzopyran449.9KCNJ5, ABCC8
6p1075609.9KCNJ11, KCNJ5
7tertiapin-q609.9KCNJ5, KCNJ11
8dicyandiamide449.9KCNJ5, ABCC8
9meglitinide449.9ABCC8, INS
10mitiglinide44 1210.8ABCC8, INS
11pinacidil449.8ABCC8, KCNJ5
12chlorpropamide44 50 1211.8INS, ABCC8
13phentolamine44 29 1211.8ABCC8, KCNJ5
14aicar44 25 1211.7INS, GCK
15nicorandil44 2910.6ABCC8, KCNJ5, KCNJ11
16mgadp449.6KCNJ5, ABCC8, KCNJ11
17cromakalim44 2910.5ABCC8, KCNJ11, KCNJ5
18minoxidil44 29 1211.5KCNJ11, KCNJ5, ABCC8
19gliclazide44 50 1211.5INS, ABCC8, KCNJ11
20proglucagon449.5PDX1, GCK
21glipizide44 50 1211.4ABCC8, KCNJ5, INS
22nateglinide44 50 1211.4KCNJ5, INS, ABCC8
23glycogen44 2510.3GCK, INS, ABCC8
24leucine449.2GCK, KCNJ11, ABCC8
25fatty acid449.2INS, GCK, ABCC8
26preproinsulin449.1GCK, INS, PDX1
27metformin44 50 1211.1INS, ABCC8, GCK, KCNJ11
28i-app449.1PDX1, INS, GCK
29incretin449.1GCK, PDX1, INS
30lysine449.1ABCC8, KCNJ11, KCNJ5
31streptozotocin449.1INS, PDX1, GCK
32potassium44 25 1211.1GCK, KCNJ11, KCNJ5, ABCC8
33repaglinide50 44 1211.0KCNJ11, INS, KCNJ5, ABCC8
34glimepiride44 50 1211.0ABCC8, KCNJ5, KCNJ11, INS
35magnesium44 25 1211.0KCNJ5, GCK, ABCC8, KCNJ11
36glibenclamide44 29 50 6012.0ABCC8, KCNJ5, KCNJ11, INS
37nicotinamide44 1210.0INS, PDX1
38arginine449.0KCNJ11, GCK, INS, ABCC8
39adp44 29 2511.0KCNJ11, GCK, ABCC8, KCNJ5
40atp44 299.9GCK, KCNJ5, ABCC8, KCNJ11
41c-peptide448.8INS, PDX1, GCK, KCNJ11
42lactate448.7GCK, INS, KCNJ5
43lipid448.7GCK, INS, KCNJ5, ABCC8
44diazoxide44 60 29 1211.6KCNJ5, INS, ABCC8, KCNJ11, GCK
45tolbutamide44 29 50 1211.6ABCC8, KCNJ5, KCNJ11, GCK, INS
46glutamate448.6GCK, KCNJ11, INS, KCNJ5, ABCC8
47calcium44 50 25 1211.1KCNJ5, KCNJ11, ABCC8, PDX1, GCK
48katp447.8KCNJ5, KCNJ11, INS, PDX1, GCK, ABCC8
49sulfonylurea447.8KCNJ5, ABCC8, KCNJ11, INS, GCK, PDX1
50glucose447.8PDX1, GCK, INS, KCNJ11, KCNJ5, ABCC8

GO Terms for genes affiliated with Permanent Neonatal Diabetes Mellitus

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Cellular components related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.1KCNJ11, KCNJ5, ABCC8

Biological processes related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of gluconeogenesisGO:0457219.7GCK, INS
2positive regulation of glycolytic processGO:0458219.7GCK, INS
3positive regulation of glycogen biosynthetic processGO:0457259.7INS, GCK
4detection of glucoseGO:0515949.5GCK, PDX1
5potassium ion transportGO:0068139.5KCNJ5, ABCC8
6potassium ion transmembrane transportGO:0718059.4ABCC8, KCNJ5, KCNJ11
7energy reserve metabolic processGO:0061129.3INS, KCNJ11, ABCC8
8positive regulation of insulin secretionGO:0320249.3GCK, PDX1
9glucose transportGO:0157589.2GCK, INS
10synaptic transmissionGO:0072689.1ABCC8, KCNJ5, KCNJ11
11regulation of insulin secretionGO:0507969.0GCK, INS, KCNJ11, ABCC8
12endocrine pancreas developmentGO:0310189.0GCK, PDX1, INS
13glucose homeostasisGO:0425939.0INS, PDX1, GCK
14glucose metabolic processGO:0060069.0KCNJ11, INS, PDX1
15small molecule metabolic processGO:0442818.6GCK, INS, KCNJ11, ABCC8

Molecular functions related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.6KCNJ11, ABCC8

Products for genes affiliated with Permanent Neonatal Diabetes Mellitus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Permanent Neonatal Diabetes Mellitus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet