PNDM
MCID: PRM030
MIFTS: 62

Permanent Neonatal Diabetes Mellitus (PNDM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories
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Summaries for Permanent Neonatal Diabetes Mellitus

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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

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 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 Hepatic ABC Transporters. The compounds cibenzoline and chromium picolinate have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are renal/urinary 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.

Wikipedia:65 A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused... more...

Description from OMIM:46 606176

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 19 42 20 22 21 48
Permanent Diabetes Mellitus of Infancy 19 42 62
Pndm 42 21 48
Diabetes Mellitus, Permanent Neonatal 46 62
 
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 Orphanet26 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic agenesis31.4PDX1
2neonatal diabetes mellitus31.2GCK, PDX1, INS, KCNJ11, KCNJ5, ABCC8
3diabetes mellitus31.1PDX1, INS, KCNJ11, KCNJ5, GCK, ABCC8
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 hypoglycemia10.2INS, ABCC8
16type 1 diabetes mellitus10.2GCK, INS
17familial hyperinsulinism10.2GCK, KCNJ11, ABCC8
18hyperuricemia10.2GCK, INS
19hyperammonemia multi-gene panels10.1KCNJ11, GCK, ABCC8
20glucose intolerance10.1PDX1, INS, GCK
21metabolic syndrome x10.1INS, ABCC8, GCK
22epilepsy syndrome10.0KCNJ11, ABCC8, KCNJ5
23maturity-onset diabetes of the young10.0GCK, INS, KCNJ11, PDX1
24cystic fibrosis10.0INS, KCNJ11, ABCC8
25gestational diabetes10.0GCK, INS, ABCC8, KCNJ11
26insulin resistance9.9GCK, ABCC8, INS
27short stature9.9INS, CFI
28hyperglycemia9.8KCNJ11, GCK, PDX1, INS, ABCC8
29ischemia9.8GCK, ABCC8, KCNJ5
30hyperinsulinism9.8KCNJ5, KCNJ11, GCK, INS, ABCC8
31hypoglycemia9.8KCNJ5, KCNJ11, GCK, INS, ABCC8
32obesity9.8KCNJ11, GCK, INS, ABCC8, KCNJ5
33insulinoma9.7KCNJ5, ABCC8, GCK, PDX1, INS, KCNJ11
34type 2 diabetes mellitus9.4ABCC8, KCNJ11, GCK, PDX1, IDDM2, KCNJ5

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 26)
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 short nose HP:0003196
21 prominent metopic ridge HP:0005487
22 beta-cell dysfunction HP:0006279
23 muscular hypotonia of the trunk HP:0008936
24 radial deviation of finger HP:0009466
25 peripheral neuropathy HP:0009830
26 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 Mellitus20 22 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:00053678.2GCK, PDX1, HPS1, INS, CFI
2MP:00030127.7PDX1, ZBTB16, ABCC8, KCNJ11, INS, HPS1
3MP:00053797.6ZBTB16, ABCC8, KCNJ11, INS, PDX1, GCK
4MP:00053766.6ZBTB16, ABCC8, KCNJ11, CFI, INS, HPS1

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:

64 (show all 82)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Phe132LeuVAR_029778
3ABCC8p.Leu213ArgVAR_029779
4ABCC8p.Leu213ArgVAR_029779
5ABCC8p.Ile1424ValVAR_029787
6ABCC8p.Ile1424ValVAR_029787
7ABCC8p.Val86AlaVAR_031354
8ABCC8p.Val86AlaVAR_031354
9INSp.Ala24AspVAR_063723rs80356663
10INSp.Ala24AspVAR_063723rs80356663
11INSp.His29AspVAR_063724rs121908272
12INSp.His29AspVAR_063724rs121908272
13INSp.Gly32ArgVAR_063725rs80356664
14INSp.Gly32ArgVAR_063725rs80356664
15INSp.Gly32SerVAR_063726rs80356664
16INSp.Gly32SerVAR_063726rs80356664
17INSp.Leu35ProVAR_063727rs121908273
18INSp.Leu35ProVAR_063727rs121908273
19INSp.Cys43GlyVAR_063728rs80356666
20INSp.Cys43GlyVAR_063728rs80356666
21INSp.Gly47ValVAR_063730rs80356667
22INSp.Gly47ValVAR_063730rs80356667
23INSp.Phe48CysVAR_063731rs80356668
24INSp.Phe48CysVAR_063731rs80356668
25INSp.Arg89CysVAR_063735rs80356669
26INSp.Arg89CysVAR_063735rs80356669
27INSp.Gly90CysVAR_063736rs80356670
28INSp.Gly90CysVAR_063736rs80356670
29INSp.Cys96SerVAR_063737rs80356671
30INSp.Cys96SerVAR_063737rs80356671
31INSp.Cys96TyrVAR_063738rs80356671
32INSp.Cys96TyrVAR_063738rs80356671
33INSp.Ser101CysVAR_063739rs121908276
34INSp.Ser101CysVAR_063739rs121908276
35INSp.Tyr103CysVAR_063740rs121908277
36INSp.Tyr103CysVAR_063740rs121908277
37INSp.Tyr108CysVAR_063741rs80356672
38INSp.Tyr108CysVAR_063741rs80356672
39KCNJ11p.Phe35LeuVAR_026498
40KCNJ11p.Phe35LeuVAR_026498
41KCNJ11p.Phe35ValVAR_026499
42KCNJ11p.Phe35ValVAR_026499
43KCNJ11p.Arg50ProVAR_026500
44KCNJ11p.Arg50ProVAR_026500
45KCNJ11p.Gln52ArgVAR_026501
46KCNJ11p.Gln52ArgVAR_026501
47KCNJ11p.Val59GlyVAR_026504
48KCNJ11p.Val59GlyVAR_026504
49KCNJ11p.Val59MetVAR_026505
50KCNJ11p.Val59MetVAR_026505
51KCNJ11p.Lys170AsnVAR_026508
52KCNJ11p.Lys170AsnVAR_026508
53KCNJ11p.Lys170ArgVAR_026509
54KCNJ11p.Lys170ArgVAR_026509
55KCNJ11p.Arg201CysVAR_026511
56KCNJ11p.Arg201CysVAR_026511
57KCNJ11p.Arg201HisVAR_026512
58KCNJ11p.Arg201HisVAR_026512
59KCNJ11p.Ile296LeuVAR_026514
60KCNJ11p.Ile296LeuVAR_026514
61KCNJ11p.Glu322LysVAR_026515
62KCNJ11p.Glu322LysVAR_026515
63KCNJ11p.Tyr330CysVAR_026516
64KCNJ11p.Tyr330CysVAR_026516
65KCNJ11p.Phe333IleVAR_026517
66KCNJ11p.Phe333IleVAR_026517
67KCNJ11p.His46TyrVAR_031332
68KCNJ11p.His46TyrVAR_031332
69KCNJ11p.Arg50GlnVAR_031333
70KCNJ11p.Arg50GlnVAR_031333
71KCNJ11p.Gly53AspVAR_031334
72KCNJ11p.Gly53AspVAR_031334
73KCNJ11p.Leu164ProVAR_031341
74KCNJ11p.Leu164ProVAR_031341
75KCNJ11p.Cys166TyrVAR_031342
76KCNJ11p.Cys166TyrVAR_031342
77KCNJ11p.Lys170ThrVAR_031343
78KCNJ11p.Lys170ThrVAR_031343
79KCNJ11p.Arg201LeuVAR_031344
80KCNJ11p.Arg201LeuVAR_031344
81KCNJ11p.Tyr330SerVAR_031348
82KCNJ11p.Tyr330SerVAR_031348

Clinvar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

6 (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 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 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 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNJ11, ABCC8
2
Show member pathways
9.8GCK, INS
39.7KCNJ11, KCNJ5
49.6INS, PDX1
5
Show member pathways
9.5ABCC8, KCNJ11, INS
6
Show member pathways
9.3GCK, PDX1, INS
7
Show member pathways
9.3INS, PDX1, GCK
8
Show member pathways
9.3KCNJ11, KCNJ5, ABCC8
9
Show member pathways
9.3ABCC8, KCNJ5, KCNJ11
109.3ABCC8, KCNJ5, KCNJ11
11
Show member pathways
9.3KCNJ11, KCNJ5, ABCC8
12
Show member pathways
8.7ABCC8, KCNJ11, INS, PDX1, GCK
13
Show member pathways
8.7ABCC8, KCNJ11, INS, PDX1, GCK
148.7GCK, PDX1, INS, KCNJ11, ABCC8

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 59)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.2KCNJ11, ABCC8
2chromium picolinate4410.1GCK, INS
3meglitinide4410.1INS, ABCC8
4mitiglinide44 1111.1ABCC8, INS
5chlorpropamide44 50 1112.1INS, ABCC8
6benzopyran4410.0KCNJ5, ABCC8
7levosimendan44 1111.0KCNJ11, KCNJ5
8dicyandiamide4410.0KCNJ5, ABCC8
9pinacidil4410.0ABCC8, KCNJ5
10proglucagon449.9PDX1, GCK
11p1075619.9KCNJ5, KCNJ11
12levcromakalim619.9KCNJ5, KCNJ11
13tertiapin-q619.9KCNJ5, KCNJ11
14gliclazide44 50 1111.9ABCC8, KCNJ11, INS
15phentolamine44 28 1111.8ABCC8, KCNJ5
16aicar44 24 1111.8GCK, INS
17nicorandil44 2810.7ABCC8, KCNJ5, KCNJ11
18preproinsulin449.7INS, PDX1, GCK
19mgadp449.7ABCC8, KCNJ5, KCNJ11
20i-app449.7GCK, PDX1, INS
21incretin449.7INS, PDX1, GCK
22cromakalim44 2810.7ABCC8, KCNJ5, KCNJ11
23minoxidil44 28 1111.7ABCC8, KCNJ5, KCNJ11
24streptozotocin449.7INS, PDX1, GCK
25glipizide44 50 1111.7ABCC8, KCNJ5, INS
26nateglinide44 50 1111.6ABCC8, KCNJ5, INS
27metformin44 50 1111.6ABCC8, KCNJ11, INS, GCK
28carbohydrates449.5GCK, INS, CFI
29c-peptide449.5KCNJ11, INS, PDX1, GCK
30glycogen44 2410.4GCK, INS, ABCC8
31repaglinide50 44 1111.4ABCC8, KCNJ5, KCNJ11, INS
32glimepiride44 50 1111.4INS, KCNJ11, KCNJ5, ABCC8
33glibenclamide44 28 50 6112.4INS, KCNJ11, KCNJ5, ABCC8
34potassium44 24 1111.3ABCC8, KCNJ5, KCNJ11, GCK
35arginine449.2ABCC8, KCNJ11, INS, GCK
36magnesium44 24 1111.2GCK, KCNJ11, KCNJ5, ABCC8
37diazoxide44 61 28 1112.1ABCC8, KCNJ5, KCNJ11, INS, GCK
38tolbutamide44 28 50 1112.1ABCC8, KCNJ5, KCNJ11, INS, GCK
39adp44 28 2411.1ABCC8, KCNJ5, KCNJ11, GCK
40cholesterol44 28 24 1112.0ABCC8, CFI, INS, GCK
41glutamate449.0ABCC8, KCNJ5, KCNJ11, INS, GCK
42atp44 289.7GCK, KCNJ11, KCNJ5, ABCC8
43sulfonylurea448.6GCK, PDX1, INS, KCNJ11, KCNJ5, ABCC8
44katp448.6ABCC8, KCNJ5, KCNJ11, INS, PDX1, GCK
45lipid448.6ABCC8, KCNJ5, CFI, INS, GCK
46serine448.5GCK, PDX1, INS, CFI, ABCC8
47calcium44 50 24 1111.2ABCC8, KCNJ5, KCNJ11, CFI, PDX1, GCK
48testosterone44 61 24 1111.2ZBTB16, ABCC8, KCNJ5, CFI, INS
49retinoic acid44 249.2ZBTB16, CFI, PDX1, GCK
50glucose448.0GCK, PDX1, INS, CFI, KCNJ11, KCNJ5

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:0080769.3KCNJ11, 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:04572110.0GCK, INS
2detection of glucoseGO:05159410.0GCK, PDX1
3positive regulation of glycolytic processGO:0458219.9GCK, INS
4positive regulation of glycogen biosynthetic processGO:0457259.9GCK, INS
5positive regulation of insulin secretionGO:0320249.8GCK, PDX1
6glucose transportGO:0157589.7GCK, INS
7energy reserve metabolic processGO:0061129.7ABCC8, KCNJ11, INS
8endocrine pancreas developmentGO:0310189.6INS, PDX1, GCK
9glucose homeostasisGO:0425939.6GCK, PDX1, INS
10potassium ion transmembrane transportGO:0718059.6ABCC8, KCNJ5, KCNJ11
11glucose metabolic processGO:0060069.5KCNJ11, INS, PDX1
12regulation of insulin secretionGO:0507969.4GCK, INS, KCNJ11, ABCC8
13synaptic transmissionGO:0072689.3ABCC8, KCNJ5, KCNJ11
14potassium ion transportGO:0068139.3KCNJ5, ABCC8
15small molecule metabolic processGO:0442819.1GCK, INS, KCNJ11, ABCC8

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.8KCNJ11, ABCC8

Products for genes affiliated with Permanent Neonatal Diabetes Mellitus

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  • Antibodies
  • Proteins
  • Lysates

Sources for Permanent Neonatal Diabetes Mellitus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet