PNDM
MCID: PRM030
MIFTS: 59

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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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Permanent Neonatal Diabetes Mellitus, also known as PNDM, is related to neonatal diabetes mellitus and diabetes mellitus. An important gene associated with Permanent Neonatal Diabetes Mellitus is GCK (glucokinase (hexokinase 4)), and among its related pathways are Hepatic ABC Transporters and Development Leptin signaling via PI3K dependent pathway. The compounds chromium picolinate and meglitinide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are no phenotypic analysis and homeostasis/metabolism.

Wikipedia:66 A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused... more...

Description from OMIM:48 606176

GeneReviews summary for dmn

Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
developmental delay - epilepsy - neonatal diabetes:
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


Aliases & Descriptions:

permanent neonatal diabetes mellitus 20 44 21 23 22 50
pndm 44 22 50
permanent diabetes mellitus of infancy 20 44
diabetes mellitus, permanent neonatal 48 63
developmental delay, epilepsy, and neonatal diabetes 63
developmental delay - epilepsy - neonatal diabetes 50
dend syndrome 50


External Ids:

ICD10 via Orphanet27 P70.2
OMIM48 606176

Related Diseases for Permanent Neonatal Diabetes Mellitus

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18GeneCards, 19GeneDecks
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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 34)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus31.3ABCC8, KCNJ5, KCNJ11, INS, GCK, PDX1
2diabetes mellitus31.3INS, GCK, PDX1, ABCC8, KCNJ5, KCNJ11
3pancreatic agenesis30.8PDX1
4intermediate dend syndrome10.5
5abcc8-related permanent neonatal diabetes mellitus10.4
6gck-related permanent neonatal diabetes mellitus10.4
7kcnj11-related permanent neonatal diabetes mellitus10.4
8pdx1-related permanent neonatal diabetes mellitus10.4
9ins-related permanent neonatal diabetes mellitus10.4
10diabetes mellitus, permanent neonatal, with neurologic features10.4
11diabetic ketoacidosis10.3
12pancreatitis10.3
13diabetes mellitus, permanent neonatal, with cerebellar agenesis10.3
14hyperinsulinemic hypoglycemia10.0ABCC8, INS
15type 1 diabetes mellitus10.0GCK, INS
16familial hyperinsulinism10.0GCK, KCNJ11, ABCC8
17hyperuricemia10.0GCK, INS
18hyperammonemia multi-gene panels10.0ABCC8, KCNJ11, GCK
19glucose intolerance10.0INS, GCK, PDX1
20hypercholesterolemia10.0INS, PDX1
21coronary artery disease10.0KCNJ5, ABCC8
22cystic fibrosis10.0ABCC8, INS, KCNJ11
23metabolic syndrome x10.0GCK, INS, ABCC8
24epilepsy syndrome9.9KCNJ5, ABCC8, KCNJ11
25maturity-onset diabetes of the young9.9KCNJ11, GCK, PDX1, INS
26insulin resistance9.9GCK, ABCC8, INS
27gestational diabetes9.9GCK, INS, KCNJ11, ABCC8
28ischemia9.9KCNJ5, ABCC8, GCK
29hyperglycemia9.9INS, PDX1, ABCC8, GCK, KCNJ11
30hyperinsulinism9.9KCNJ11, GCK, INS, ABCC8, KCNJ5
31hypoglycemia9.9KCNJ11, INS, ABCC8, KCNJ5, GCK
32obesity9.8ABCC8, KCNJ5, KCNJ11, INS, GCK
33insulinoma9.8ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
34type 2 diabetes mellitus9.8KCNJ11, GCK, PDX1, IDDM2, INS, ABCC8

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

606176

Clinical features from OMIM:

606176

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Permanent Neonatal Diabetes Mellitus

Drug clinical trials:

Search ClinicalTrials for Permanent Neonatal Diabetes Mellitus

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

Search CenterWatch for Permanent Neonatal Diabetes Mellitus

Genetic Tests for Permanent Neonatal Diabetes Mellitus

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21GeneTests, 23GTR
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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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34MalaCards
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MalaCards organs/tissues related to Permanent Neonatal Diabetes Mellitus:

34
Pancreas

Animal Models for Permanent Neonatal Diabetes Mellitus or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030127.9ABCC8, KCNJ11, INS, PDX1
2MP:00053767.8GCK, PDX1, INS, KCNJ11, ABCC8
3MP:00053797.7GCK, PDX1, INS, KCNJ11, ABCC8

Publications for Permanent Neonatal Diabetes Mellitus

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53PubMed
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Articles related to Permanent Neonatal Diabetes Mellitus:

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

Variations for Permanent Neonatal Diabetes Mellitus

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Permanent Neonatal Diabetes Mellitus:

65 (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:

1 (show all 64)
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.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
54KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
55KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
56ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
57ABCC8NM_001287174.1(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
58ABCC8NM_001287174.1(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
59ABCC8NM_001287174.1(ABCC8): c.4273A> G (p.Ile1425Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
60ABCC8NM_001287174.1(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
61ABCC8NM_001287174.1(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
62ABCC8NM_001287174.1(ABCC8): c.3557C> A (p.Ser1186Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
63ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
64ABCC8NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB, 31KEGG
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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
1
Show member pathways
9.6INS, GCK
29.4ABCC8, KCNJ11
39.3KCNJ11, KCNJ5
49.2PDX1, INS
5
Show member pathways
9.0ABCC8, KCNJ11, INS
6
Show member pathways
8.9ABCC8, KCNJ5, KCNJ11
7
Show member pathways
8.9ABCC8, KCNJ5, KCNJ11
88.9KCNJ11, KCNJ5, ABCC8
9
Show member pathways
8.9KCNJ11, KCNJ5, ABCC8
10
Show member pathways
8.8INS, PDX1, GCK
11
Show member pathways
8.8GCK, PDX1, INS
12
Show member pathways
8.6GCK, INS, KCNJ11, ABCC8
13
Show member pathways
7.8ABCC8, KCNJ11, INS, PDX1, GCK
147.8GCK, PDX1, INS, KCNJ11, ABCC8
15
Show member pathways
7.8ABCC8, KCNJ11, INS, PDX1, GCK

Compounds for genes affiliated with Permanent Neonatal Diabetes Mellitus

About this section
Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB, 62Tocris Bioscience
See all sources

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

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1chromium picolinate4610.0INS, GCK
2meglitinide4610.0ABCC8, INS
3mitiglinide46 1211.0ABCC8, INS
4benzopyran469.9ABCC8, KCNJ5
5chlorpropamide46 52 1211.9ABCC8, INS
6dicyandiamide469.9ABCC8, KCNJ5
7pinacidil469.9ABCC8, KCNJ5
8cibenzoline469.8ABCC8, KCNJ11
9phentolamine46 30 1211.8KCNJ5, ABCC8
10aicar46 25 1211.8GCK, INS
11levosimendan46 1210.7KCNJ11, KCNJ5
12tertiapin-q629.6KCNJ11, KCNJ5
13levcromakalim629.6KCNJ11, KCNJ5
14p1075629.6KCNJ11, KCNJ5
15proglucagon469.5GCK, PDX1
16glipizide46 52 1211.5ABCC8, KCNJ5, INS
17nateglinide46 52 1211.5ABCC8, KCNJ5, INS
18glycogen46 2510.4ABCC8, INS, GCK
19gliclazide46 52 1211.4ABCC8, KCNJ11, INS
20nicorandil46 3010.4KCNJ11, KCNJ5, ABCC8
21mgadp469.4KCNJ11, KCNJ5, ABCC8
22cromakalim46 3010.3KCNJ11, KCNJ5, ABCC8
23minoxidil46 30 1211.3ABCC8, KCNJ5, KCNJ11
24fatty acid469.3GCK, INS, ABCC8
25preproinsulin469.2INS, PDX1, GCK
26i-app469.2INS, PDX1, GCK
27incretin469.2INS, PDX1, GCK
28streptozotocin469.2GCK, PDX1, INS
29nicotinamide46 1210.1PDX1, INS
30leucine469.1GCK, KCNJ11, ABCC8
31metformin46 52 1211.0ABCC8, KCNJ11, INS, GCK
32lysine468.9ABCC8, KCNJ5, KCNJ11
33potassium46 25 1210.9GCK, KCNJ11, KCNJ5, ABCC8
34repaglinide52 46 1210.9ABCC8, KCNJ5, KCNJ11, INS
35glimepiride46 52 1210.9ABCC8, KCNJ5, KCNJ11, INS
36glibenclamide46 30 52 6211.9ABCC8, KCNJ5, KCNJ11, INS
37arginine468.9ABCC8, KCNJ11, INS, GCK
38magnesium46 25 1210.9GCK, KCNJ11, KCNJ5, ABCC8
39lipid468.8ABCC8, KCNJ5, INS, GCK
40lactate468.8GCK, INS, KCNJ5
41adp46 30 2510.8ABCC8, KCNJ5, KCNJ11, GCK
42atp46 309.8ABCC8, KCNJ5, KCNJ11, GCK
43c-peptide468.6KCNJ11, INS, PDX1, GCK
44diazoxide46 62 30 1211.5ABCC8, KCNJ5, KCNJ11, INS, GCK
45tolbutamide46 30 52 1211.5GCK, INS, KCNJ11, KCNJ5, ABCC8
46glutamate468.5ABCC8, KCNJ5, KCNJ11, INS, GCK
47calcium46 52 25 1210.9GCK, PDX1, KCNJ11, KCNJ5, ABCC8
48katp467.7GCK, ABCC8, KCNJ5, KCNJ11, INS, PDX1
49sulfonylurea467.7ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
50glucose467.7ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK

GO Terms for genes affiliated with Permanent Neonatal Diabetes Mellitus

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080768.9KCNJ11, 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:0457219.8GCK, INS
2positive regulation of glycolytic processGO:0458219.8GCK, INS
3positive regulation of glycogen biosynthetic processGO:0457259.8INS, GCK
4potassium ion transportGO:0068139.5KCNJ5, ABCC8
5detection of glucoseGO:0515949.5GCK, PDX1
6glucose transportGO:0157589.3GCK, INS
7positive regulation of insulin secretionGO:0320249.3GCK, PDX1
8energy reserve metabolic processGO:0061129.2INS, KCNJ11, ABCC8
9potassium ion transmembrane transportGO:0718059.2ABCC8, KCNJ5, KCNJ11
10endocrine pancreas developmentGO:0310189.1GCK, PDX1, INS
11glucose homeostasisGO:0425939.1INS, PDX1, GCK
12synaptic transmissionGO:0072688.9ABCC8, KCNJ5, KCNJ11
13regulation of insulin secretionGO:0507968.9GCK, INS, KCNJ11, ABCC8
14glucose metabolic processGO:0060068.8KCNJ11, INS, PDX1
15small molecule metabolic processGO:0442818.5GCK, INS, KCNJ11, ABCC8

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.4KCNJ11, ABCC8

Products for genes affiliated with Permanent Neonatal Diabetes Mellitus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Permanent Neonatal Diabetes Mellitus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet