MCID: DBT083
MIFTS: 52

Diabetes Mellitus, Permanent Neonatal malady

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal

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Diabetes Mellitus, Permanent Neonatal, Aliases & Descriptions:

Name: Diabetes Mellitus, Permanent Neonatal 45 10 60
Permanent Neonatal Diabetes Mellitus 19 41 20 21 47 22
Pndm 41 21 47
Permanent Diabetes Mellitus of Infancy 19 41
Monogenic Diabetes of Infancy 41 47
 
Neonatal Diabetes Mellitus 41 60
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 45
Diabetes, Permanent Neonatal 45
Ndm 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 606176
Orphanet47 99885
ICD10 via Orphanet26 P70.2

Summaries for Diabetes Mellitus, Permanent Neonatal

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OMIM:45 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a... (606176) more...

MalaCards based summary: Diabetes Mellitus, Permanent Neonatal, also known as permanent neonatal diabetes mellitus, 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 Diabetes Mellitus, Permanent Neonatal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Inwardly rectifying K+ channels. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are liver/biliary system and no phenotypic analysis.

Genetics Home Reference:21 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:41 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

GeneReviews summary for dmn

Related Diseases for Diabetes Mellitus, Permanent Neonatal

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic agenesis31.2PDX1
2neonatal diabetes mellitus30.1PDX1, INS, KCNJ11, ABCC8, GCK
3hyperinsulinism29.8INS, KCNJ11, ABCC8, GCK
4diabetes mellitus, 6q24-related transient neonatal10.7
5pancreatic beta cell agenesis with neonatal diabetes mellitus10.6
6pancreatic and cerebellar agenesis10.5
7abcc8-related permanent neonatal diabetes mellitus10.5
8gck-related permanent neonatal diabetes mellitus10.5
9kcnj11-related permanent neonatal diabetes mellitus10.5
10pdx1-related permanent neonatal diabetes mellitus10.5
11ins-related permanent neonatal diabetes mellitus10.5
12permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis10.5
13paternal uniparental disomy of chromosome 610.5
14wolcott-rallison syndrome10.4
15dend syndrome10.4
16macroglossia10.4
17abcc8-related transient neonatal diabetes mellitus 210.4
18pneumonia10.4
19hepatitis10.3
20congenital hypothyroidism10.3
21hypothyroidism10.3
22diabetic ketoacidosis10.2
23pancreatitis10.2
24fanconi-bickel syndrome10.1
25beckwith-wiedemann syndrome10.1
26diabetes mellitus, transient neonatal, 310.1
27hypertriglyceridemia10.1
28diabetes mellitus, transient neonatal 210.1
29thrombocytopenia10.1
30intestinal atresia10.1
31cerebritis10.1
32congenital diaphragmatic hernia10.1
33diarrhea10.1
34organic acidemia10.1
35pervasive developmental disorder10.1
36triple x syndrome10.1
37cerebellar agenesis10.1
38cerebellar hypoplasia10.1
39precocious puberty10.1
40diabetes mellitus, kcnj11-related transient neonatal10.1
41central precocious puberty10.1
42cerebral sinovenous thrombosis10.1
43intermediate dend syndrome10.1
44hyperinsulinemic hypoglycemia, familial, 210.1ABCC8, INS
45diabetes mellitus, transient neonatal, 110.0
46calciphylaxis10.0
47nondystrophic myotonia10.0
48hypercholesterolemia, familial10.0PDX1, INS
49hyperuricemia10.0INS, GCK
50diabetes mellitus, insulin-dependent9.9GCK, INS

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



Diseases related to diabetes mellitus, permanent neonatal

Symptoms for Diabetes Mellitus, Permanent Neonatal

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Symptoms by clinical synopsis from OMIM:

606176

Clinical features from OMIM:

606176

HPO human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

(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 Diabetes Mellitus, Permanent Neonatal

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Permanent Neonatal

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal

Genetic Tests for Diabetes Mellitus, Permanent Neonatal

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Genetic tests related to Diabetes Mellitus, Permanent Neonatal:

id Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus20 22 PDX1

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

31
Pancreas

Animal Models for Diabetes Mellitus, Permanent Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8GCK, PDX1, INS
2MP:00030128.5ABCC8, KCNJ11, INS, PDX1
3MP:00053797.9GCK, PDX1, INS, KCNJ11, ABCC8
4MP:00053767.6ABCC8, KCNJ11, INS, PDX1, GCK

Publications for Diabetes Mellitus, Permanent Neonatal

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Variations for Diabetes Mellitus, Permanent Neonatal

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

62 (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 Diabetes Mellitus, Permanent Neonatal:

6 (show all 65)
id Gene Variation 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 Diabetes Mellitus, Permanent Neonatal

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

Pathways for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6KCNJ11, ABCC8
2
Show member pathways
9.6KCNJ11, ABCC8
39.6KCNJ11, ABCC8
4
Show member pathways
9.6KCNJ11, ABCC8
59.4PDX1, INS
6
Show member pathways
9.3INS, GCK
7
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.3GCK, INS
8
Show member pathways
9.1ABCC8, INS, KCNJ11
9
Show member pathways
8.8PDX1, INS, GCK
10
Show member pathways
8.8INS, PDX1, GCK
11
Show member pathways
8.5ABCC8, INS, GCK, KCNJ11
12
Show member pathways
7.9ABCC8, KCNJ11, PDX1, GCK, INS
13
Show member pathways
7.9PDX1, INS, KCNJ11, ABCC8, GCK
147.9INS, GCK, ABCC8, PDX1, KCNJ11

Compounds for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1cibenzoline4310.0KCNJ11, ABCC8
2nicorandil43 2811.0KCNJ11, ABCC8
3mgadp4310.0KCNJ11, ABCC8
4cromakalim43 2811.0KCNJ11, ABCC8
5minoxidil43 28 1212.0KCNJ11, ABCC8
6meglitinide439.9ABCC8, INS
7mitiglinide43 1210.9INS, ABCC8
8glipizide43 49 1211.9ABCC8, INS
9chlorpropamide43 49 1211.9INS, ABCC8
10nateglinide43 49 1211.8INS, ABCC8
11pip2439.8ABCC8, KCNJ11
12chromium picolinate439.7INS, GCK
13nicotinamide43 1210.7PDX1, INS
14proglucagon439.7PDX1, GCK
15aicar43 24 1211.6GCK, INS
162-deoxyglucose43 1210.6GCK, INS
17repaglinide49 43 1211.5INS, KCNJ11, ABCC8
18gliclazide43 49 1211.5INS, KCNJ11, ABCC8
19glimepiride43 49 1211.5ABCC8, KCNJ11, INS
20glibenclamide43 28 49 5912.5INS, KCNJ11, ABCC8
21glycerol43 24 1211.3GCK, INS
22potassium43 24 1211.3ABCC8, KCNJ11, GCK
23leucine439.2ABCC8, KCNJ11, GCK
24preproinsulin439.2INS, PDX1, GCK
25i-app439.2GCK, PDX1, INS
26carbohydrates439.2GCK, INS
27incretin439.2INS, PDX1, GCK
28streptozotocin439.2GCK, PDX1, INS
29glycogen43 2410.2GCK, INS, ABCC8
30magnesium43 24 1211.2GCK, KCNJ11, ABCC8
31fatty acid439.2GCK, INS, ABCC8
32adp43 28 2411.1GCK, KCNJ11, ABCC8
33cholesterol43 28 24 1212.0GCK, INS, ABCC8
34Adenosine triphosphate24 1210.0ABCC8, KCNJ11, GCK
35diazoxide43 59 28 1211.9GCK, INS, KCNJ11, ABCC8
36tolbutamide43 28 49 1211.9ABCC8, KCNJ11, INS, GCK
37metformin43 49 1210.9ABCC8, KCNJ11, INS, GCK
38c-peptide438.8KCNJ11, INS, PDX1, GCK
39arginine438.8ABCC8, KCNJ11, INS, GCK
40glutamate438.8GCK, INS, KCNJ11, ABCC8
41atp43 289.7GCK, KCNJ11, ABCC8
42serine438.6GCK, PDX1, INS, ABCC8
43calcium43 49 24 1211.6ABCC8, KCNJ11, PDX1, GCK
44sulfonylurea438.4GCK, PDX1, INS, KCNJ11, ABCC8
45katp438.4ABCC8, KCNJ11, INS, PDX1, GCK
46glucose438.3ABCC8, KCNJ11, INS, PDX1, GCK

GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.6KCNJ11, ABCC8

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:00515949.6PDX1, GCK
2negative regulation of gluconeogenesisGO:00457219.5INS, GCK
3positive regulation of glycolytic processGO:00458219.4GCK, INS
4positive regulation of glycogen biosynthetic processGO:00457259.4GCK, INS
5glucose transportGO:00157589.3INS, GCK
6positive regulation of insulin secretionGO:00320249.3GCK, PDX1
7potassium ion transmembrane transportGO:00718059.3KCNJ11, ABCC8
8energy reserve metabolic processGO:00061129.3ABCC8, KCNJ11, INS
9glucose metabolic processGO:00060069.2PDX1, KCNJ11, INS
10endocrine pancreas developmentGO:00310189.1GCK, INS, PDX1
11glucose homeostasisGO:00425939.0INS, GCK, PDX1
12regulation of insulin secretionGO:00507968.7KCNJ11, GCK, INS, ABCC8
13small molecule metabolic processGO:00442818.4ABCC8, KCNJ11, INS, GCK

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.6KCNJ11, ABCC8

Products for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
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35MGI
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39NDF-RT
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