MCID: DBT042
MIFTS: 26

Diabetes, Permanent Neonatal malady

Summaries for Diabetes, Permanent Neonatal

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47OMIM, 33MalaCards
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MalaCards: Diabetes, Permanent Neonatal is related to permanent neonatal diabetes mellitus and diabetic ketoacidosis. An important gene associated with Diabetes, Permanent Neonatal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Insulin secretion and ATP sensitive Potassium channels. The compounds cibenzoline and gliclazide have been mentioned in the context of this disorder. Affiliated tissues include pancreatic islet.

Description from OMIM:47 606176

Aliases & Classifications for Diabetes, Permanent Neonatal

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47OMIM
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Aliases & Descriptions:

diabetes, permanent neonatal 47


Related Diseases for Diabetes, Permanent Neonatal

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Diabetes, Permanent Neonatal:



Diseases related to diabetes, permanent neonatal

Clinical Features for Diabetes, Permanent Neonatal

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47OMIM
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Clinical features from OMIM:

606176

Drugs & Therapeutics for Diabetes, Permanent Neonatal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Diabetes, Permanent Neonatal

Anatomical Context for Diabetes, Permanent Neonatal

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33MalaCards
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MalaCards organs/tissues related to Diabetes, Permanent Neonatal:

33
Pancreatic islet

Animal Models for Diabetes, Permanent Neonatal or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Diabetes, Permanent Neonatal

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51PubMed
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Articles related to Diabetes, Permanent Neonatal:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy. (23959658)
2014
2
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation. (24130952)
2013
3
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. (24150202)
2013
4
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
5
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. (22306677)
2012
6
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. (21910811)
2012
7
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. (22672870)
2012
8
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. (22768671)
2012
9
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. (22060631)
2012
10
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). (22991235)
2012
11
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. (22235272)
2012
12
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
13
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. (21352428)
2011
14
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. (21378176)
2011
15
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. (20573748)
2010
16
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. (20922570)
2010
17
Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. (20184447)
2010
18
Neonatal Escherichia coli meningitis can be complicated by central permanent diabetes insipidus. (19492576)
2009
19
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. (18931102)
2009
20
Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes. (19538245)
2009
21
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. (19837917)
2009
22
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. (19247925)
2009
23
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. (19790256)
2009
24
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. (19774848)
2009
25
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. (18171712)
2008
26
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. (18981553)
2008
27
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. (17668386)
2007
28
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. (17213273)
2007
29
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. (17446535)
2007
30
Glycemic index of meals and postprandial glycemia in patients with permanent neonatal diabetes due to Kir6.2 gene mutations]. (18159846)
2007
31
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. (17919176)
2007
32
Insulin gene mutations as a cause of permanent neonatal diabetes. (17855560)
2007
33
Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function. (17965292)
2007
34
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). (17317760)
2007
35
Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity. (17192350)
2007
36
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. (17491708)
2006
37
Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome? (17054450)
2006
38
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
39
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (15580558)
2005
40
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. (15448106)
2004
41
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (15115830)
2004
42
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. (14578306)
2003
43
Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France. (11914755)
2002
44
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. (12378186)
2002
45
Permanent neonatal diabetes associated with other anomalies]. (11333481)
2001
46
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. (10212083)
1999
47
Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. (10798084)
1999
48
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
49
Permanent Neonatal Diabetes Mellitus (20301620)
1993
50
Permanent neonatal diabetes mellitus: a case report with plasma insulin studies. (1130120)
1975

Genetic Variations for Diabetes, Permanent Neonatal

Expression for genes affiliated with Diabetes, Permanent Neonatal

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diabetes, Permanent Neonatal

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Pathways for genes affiliated with Diabetes, Permanent Neonatal

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore, 52QIAGEN
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Compounds for genes affiliated with Diabetes, Permanent Neonatal

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
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Compounds related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1cibenzoline459.7KCNJ11, ABCC8
2gliclazide45 50 1111.6KCNJ11, ABCC8
3metformin45 50 1111.5KCNJ11, ABCC8
4benzopyran459.5ABCC8, KCNJ5
5dicyandiamide459.5ABCC8, KCNJ5
6pinacidil459.5KCNJ5, ABCC8
7pip2459.4ABCC8, KCNJ11
8glipizide45 1110.4KCNJ5, ABCC8
9phentolamine29 45 1111.4KCNJ5, ABCC8
10nateglinide45 50 1111.4ABCC8, KCNJ5
11levosimendan45 1110.4KCNJ11, KCNJ5
12tertiapin-q609.3KCNJ11, KCNJ5
13levcromakalim609.3KCNJ11, KCNJ5
14p1075609.3KCNJ11, KCNJ5
15phospholipid459.1ABCC8, KCNJ5
16nicorandil45 299.9KCNJ5, KCNJ11, ABCC8
17mgadp458.9KCNJ5, KCNJ11, ABCC8
18cromakalim45 299.9KCNJ5, ABCC8, KCNJ11
19minoxidil45 29 1110.9KCNJ5, ABCC8, KCNJ11
20repaglinide45 50 1110.9KCNJ11, ABCC8, KCNJ5
21glimepiride45 50 1110.9ABCC8, KCNJ11, KCNJ5
22Glyburide118.9KCNJ5, ABCC8, KCNJ11
23sulfonylurea458.9KCNJ5, KCNJ11, ABCC8
24katp458.9KCNJ11, ABCC8, KCNJ5
25diazoxide45 60 29 1111.9KCNJ11, ABCC8, KCNJ5
26tolbutamide45 50 29 1111.9KCNJ5, KCNJ11, ABCC8
27glibenclamide45 29 50 6011.9ABCC8, KCNJ5, KCNJ11
28potassium45 11 2410.7ABCC8, KCNJ11, KCNJ5
29lysine458.7KCNJ11, KCNJ5, ABCC8
30magnesium45 11 2410.7KCNJ11, KCNJ5, ABCC8
31glutamate458.6KCNJ5, KCNJ11, ABCC8
32adp45 29 2410.5KCNJ11, KCNJ5, ABCC8
33atp45 299.4KCNJ5, ABCC8, KCNJ11
34glucose458.2KCNJ11, KCNJ5, ABCC8

GO Terms for genes affiliated with Diabetes, Permanent Neonatal

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16Gene Ontology
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Cellular components related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080768.5ABCC8, KCNJ11, KCNJ5

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.3ABCC8, KCNJ11
2energy reserve metabolic processGO:0061129.3ABCC8, KCNJ11
3regulation of insulin secretionGO:0507969.2KCNJ11, ABCC8
4potassium ion transportGO:0068138.8ABCC8, KCNJ5
5synaptic transmissionGO:0072688.6ABCC8, KCNJ11, KCNJ5

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3ABCC8, KCNJ11

Products for genes affiliated with Diabetes, Permanent Neonatal

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  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes, Permanent Neonatal

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet