NDM
MCID: NNT009
MIFTS: 52

Neonatal Diabetes Mellitus (NDM) malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Neonatal Diabetes Mellitus

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66Wikipedia, 34MalaCards
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Wikipedia:66 Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of... more...

MalaCards: Neonatal Diabetes Mellitus, also known as diabetes mellitus syndrome in newborn infant, is related to diabetes mellitus and permanent neonatal diabetes mellitus. An important gene associated with Neonatal Diabetes Mellitus is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Inwardly rectifying K+ channels and Antiarrhythmic Pathway, Pharmacodynamics. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and pancreas, and related mouse phenotypes are cellular and endocrine/exocrine gland.

Aliases & Classifications for Neonatal Diabetes Mellitus

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Sources:
9Disease Ontology, 23GTR, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 28ICD9CM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

50
neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

neonatal diabetes mellitus 9 23 11 46 50 63
diabetes mellitus syndrome in newborn infant 9
ndm 50


External Ids:

Disease Ontology9 DOID:11717
ICD9CM28 775.1
ICD10 via Orphanet27 P70.2
SNOMED-CT59 49817004
SNOMED-CT via Orphanet60 49817004
UMLS via Orphanet64 C0158981

Related Diseases for Neonatal Diabetes Mellitus

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Diabetes Mellitus, 6q24-Related Transient Neonatal family:

neonatal diabetes mellitus Transient Neonatal Diabetes Mellitus
Diabetes Mellitus, Kcnj11-Related Transient Neonatal Abcc8-Related Transient Neonatal Diabetes Mellitus 2
Diabetes Mellitus, Transient Neonatal 2 Diabetes Mellitus, Transient Neonatal, 3

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus31.7ABCC8, KCNJ11, INS, PDX1
2permanent neonatal diabetes mellitus31.4INS, ABCC8
3pancreatic agenesis31.0PDX1
4type 1 diabetes mellitus30.3PDX1, INS
5beckwith-wiedemann syndrome30.1PLAGL1, ZFP57, ABCC8
6hyperinsulinism30.1INS, KCNJ11, ABCC8
7transient neonatal diabetes mellitus11.0
8diabetes mellitus, 6q24-related transient neonatal10.6
9pancreatitis10.6
10pancreatic beta cell agenesis with neonatal diabetes mellitus10.5
11paternal uniparental disomy of chromosome 610.5
12macroglossia10.4
13pneumonia10.3
14klebsiella10.3
15diabetic ketoacidosis10.3
16congenital hypothyroidism10.3
17hepatitis10.3
18hypothyroidism10.3
19abcc8-related transient neonatal diabetes mellitus 210.3
20abcc8-related permanent neonatal diabetes mellitus10.3
21gck-related permanent neonatal diabetes mellitus10.3
22kcnj11-related permanent neonatal diabetes mellitus10.3
23pdx1-related permanent neonatal diabetes mellitus10.3
24ins-related permanent neonatal diabetes mellitus10.3
25intestinal atresia10.1
26congenital diaphragmatic hernia10.1
27diarrhea10.1
28glaucoma10.1
29organic acidemia10.1
30pervasive developmental disorder10.1
31thrombocytopenia10.1
32triple x syndrome10.1
33cerebellar agenesis10.1
34cerebellar hypoplasia10.1
35fanconi bickel syndrome10.1
36precocious puberty10.1
37diabetes mellitus, permanent neonatal, with cerebellar agenesis10.1
38diabetes mellitus, kcnj11-related transient neonatal10.1
39diabetes mellitus, neonatal, with congenital hypothyroidism10.1
40central precocious puberty10.1
41diabetes mellitus, insulin-dependent, neonatal10.1
42sepsis10.1
43hypertriglyceridemia10.1
44intermediate dend syndrome10.1
45familial hyperinsulinism10.0KCNJ11, ABCC8
46calciphylaxis10.0
47nondystrophic myotonia10.0
48hyperammonemia multi-gene panels10.0KCNJ11, ABCC8
49hyperinsulinemic hypoglycemia10.0INS, ABCC8
50glucose intolerance10.0PDX1, INS

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



Diseases related to neonatal diabetes mellitus

Symptoms for Neonatal Diabetes Mellitus

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Drugs & Therapeutics for Neonatal Diabetes Mellitus

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Neonatal Diabetes Mellitus

Drug clinical trials:

Search ClinicalTrials for Neonatal Diabetes Mellitus

Search NIH Clinical Center for Neonatal Diabetes Mellitus

Search CenterWatch for Neonatal Diabetes Mellitus

Genetic Tests for Neonatal Diabetes Mellitus

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Sources:
23GTR
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Genetic tests related to Neonatal Diabetes Mellitus:

id Genetic test Affiliating Genes
1 Neonatal Diabetes Mellitus23

Anatomical Context for Neonatal Diabetes Mellitus

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Sources:
34MalaCards
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MalaCards organs/tissues related to Neonatal Diabetes Mellitus:

34
Testes, Kidney, Pancreas, Brain, Heart

Animal Models for Neonatal Diabetes Mellitus or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neonatal Diabetes Mellitus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.2PDX1, PLAGL1, ZFP57, INS
2MP:00053798.1ABCC8, KCNJ11, INS, PDX1
3MP:00107718.1KCNJ11, INS, PLAGL1, PDX1
4MP:00030127.6PDX1, PLAGL1, INS, KCNJ11, ABCC8
5MP:00107687.4KCNJ11, INS, ZFP57, PLAGL1, PDX1

Publications for Neonatal Diabetes Mellitus

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Sources:
53PubMed
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Articles related to Neonatal Diabetes Mellitus:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
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
2
Neonatal diabetes mellitus in China: a case report and review of the Chinese literature. (22144719)
2012
3
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
4
Improved long-term glucose control in neonatal diabetes mellitus after early sulfonylurea allergy. (22768668)
2012
5
Permanent neonatal diabetes mellitus. (23569512)
2012
6
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. (21823539)
2011
7
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
8
Glycated albumin but not HbA1c reflects glycaemic control in patients with neonatal diabetes mellitus. (21644010)
2011
9
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. (21592955)
2011
10
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (21738553)
2011
11
Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report. (21274328)
2010
12
Mutations in pancreatic A9-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. (20878480)
2010
13
A case of transient neonatal diabetes mellitus. (21131807)
2010
14
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. (20412110)
2010
15
Transient neonatal diabetes mellitus in an extremely preterm infant. (21686427)
2009
16
No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects. (17093940)
2007
17
Neonatal diabetes mellitus: insights for more common forms of diabetes. (17933979)
2007
18
The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus]. (17239309)
2006
19
Glucose-monitoring with continuous subcutaneous microdialysis in neonatal diabetes mellitus. (16819705)
2006
20
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. (17220064)
2006
21
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (16885549)
2006
22
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. (16402210)
2006
23
Neonatal diabetes mellitus: from understudy to center stage. (16012265)
2005
24
From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. (16375017)
2005
25
Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice. (16459456)
2005
26
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
27
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. (15924231)
2005
28
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. (15286800)
2004
29
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. (15181075)
2004
30
Continuous subcutaneous insulin infusion in neonatal diabetes mellitus. (15601363)
2004
31
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. (14976569)
2003
32
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? (12014522)
2002
33
Understanding neonatal diabetes mellitus. (12378179)
2002
34
Neonatal diabetes mellitus. (15016165)
2002
35
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. (11448939)
2001
36
Neonatal diabetes mellitus due to complete glucokinase deficiency. (11372010)
2001
37
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (11137992)
2001
38
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. (10617703)
2000
39
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. (10212083)
1999
40
Neonatal diabetes mellitus with hypergalactosemia. (10526252)
1999
41
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. (9894800)
1998
42
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. (9450188)
1997
43
Neonatal diabetes mellitus. (7494585)
1996
44
Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. (8597835)
1995
45
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
46
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
47
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. (1537364)
1992
48
Neonatal diabetes mellitus: evaluation of pancreatic beta-cell function in two cases. (3331387)
1987
49
Transient neonatal diabetes mellitus in half sisters. A sequel. (7091092)
1982
50
NEONATAL DIABETES MELLITUS. (14198743)
1964

Variations for Neonatal Diabetes Mellitus

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Neonatal Diabetes Mellitus:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000207.2(INS): c.127T> G (p.Cys43Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356666GRCh37Chr 11, 2182075: 2182075
2NM_000207.2(INS): c.94G> A (p.Gly32Ser)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
3ABCC8NM_001287174.1(ABCC8): c.394T> G (p.Phe132Val)single nucleotide variantLikely pathogenic, Pathogenicrs80356637GRCh37Chr 11, 17491666: 17491666

Expression for genes affiliated with 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 Neonatal Diabetes Mellitus

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

Pathways for genes affiliated with Neonatal Diabetes Mellitus

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Sources:
51PathCards, 56Reactome, 52PharmGKB, 13EMD Millipore, 61Thomson Reuters, 5Cell Signaling Technology, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4KCNJ11, ABCC8
29.4KCNJ11, ABCC8
3
Show member pathways
9.4KCNJ11, ABCC8
49.4ABCC8, KCNJ11
59.1PDX1, INS
69.1PDX1, INS
7
Show member pathways
9.1PDX1, INS
8
Show member pathways
8.6ABCC8, KCNJ11, INS
9
Show member pathways
8.1ABCC8, KCNJ11, INS, PDX1
10
Show member pathways
8.1PDX1, INS, KCNJ11, ABCC8
118.1PDX1, INS, KCNJ11, ABCC8

Compounds for genes affiliated with Neonatal Diabetes Mellitus

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1cibenzoline469.8KCNJ11, ABCC8
2nicorandil46 3010.8ABCC8, KCNJ11
3mgadp469.8KCNJ11, ABCC8
4cromakalim46 3010.7ABCC8, KCNJ11
5minoxidil46 30 1211.7ABCC8, KCNJ11
6pip2469.4ABCC8, KCNJ11
7preproinsulin469.4PDX1, INS
8i-app469.4PDX1, INS
9meglitinide469.4INS, ABCC8
10mitiglinide46 1210.4INS, ABCC8
11incretin469.4INS, PDX1
12glipizide46 52 1211.3INS, ABCC8
13chlorpropamide46 52 1211.3ABCC8, INS
14nicotinamide46 1210.3PDX1, INS
15streptozotocin469.2PDX1, INS
16nateglinide46 52 1211.2INS, ABCC8
17octreotide46 62 30 1212.2PLAGL1, INS
18c-peptide469.1KCNJ11, INS, PDX1
19repaglinide52 46 1211.0ABCC8, KCNJ11, INS
20gliclazide46 52 1211.0INS, KCNJ11, ABCC8
21glimepiride46 52 1211.0INS, KCNJ11, ABCC8
22diazoxide46 62 30 1212.0ABCC8, KCNJ11, INS
23tolbutamide46 30 52 1212.0INS, KCNJ11, ABCC8
24glibenclamide46 30 52 6212.0ABCC8, KCNJ11, INS
25metformin46 52 1211.0ABCC8, KCNJ11, INS
26glutamate468.6INS, KCNJ11, ABCC8
27sulfonylurea468.5PDX1, INS, KCNJ11, ABCC8
28katp468.5PDX1, INS, KCNJ11, ABCC8
29testosterone46 62 25 1211.4PLAGL1, INS, ABCC8
30arginine468.3ABCC8, KCNJ11, INS
31glucose468.3ABCC8, KCNJ11, INS, PDX1

GO Terms for genes affiliated with Neonatal Diabetes Mellitus

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17Gene Ontology
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Cellular components related to Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.4KCNJ11, ABCC8

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.1KCNJ11, ABCC8
2glucose homeostasisGO:0425939.1PDX1, INS
3endocrine pancreas developmentGO:0310189.0PDX1, INS
4regulation of insulin secretionGO:0507968.7INS, KCNJ11, ABCC8
5glucose metabolic processGO:0060068.7KCNJ11, INS, PDX1
6energy reserve metabolic processGO:0061128.7INS, KCNJ11, ABCC8

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

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

Products for genes affiliated with Neonatal Diabetes Mellitus

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Sources for 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