MCID: NNT009
MIFTS: 44

Neonatal Diabetes Mellitus malady

Genetic diseases, Fetal diseases, Rare diseases, Endocrine diseases categories

Summaries for Neonatal Diabetes Mellitus

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Wikipedia:63 Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of... more...

MalaCards based summary: Neonatal Diabetes Mellitus, also known as diabetes mellitus syndrome in newborn infant, is related to pancreatic agenesis and diabetes mellitus, permanent neonatal. An important gene associated with Neonatal Diabetes Mellitus is ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8), and among its related pathways are Inwardly rectifying K+ channels and Development Leptin signaling via PI3K dependent pathway. 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 endocrine/exocrine gland and cellular.

Aliases & Classifications for Neonatal Diabetes Mellitus

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Neonatal Diabetes Mellitus, Aliases & Descriptions:

Name: Neonatal Diabetes Mellitus 9 20 11 43 22 60
 
Diabetes Mellitus Syndrome in Newborn Infant 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:11717
ICD9CM27 775.1
SNOMED-CT55 49817004
ICD1025 P70.2

Related Diseases for Neonatal Diabetes Mellitus

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Diseases in the Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal, 3
Diabetes Mellitus, Transient Neonatal 2 Diabetes Mellitus, 6q24-Related Transient Neonatal
Diabetes Mellitus, Kcnj11-Related Transient Neonatal Abcc8-Related Transient Neonatal Diabetes Mellitus 2

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic agenesis31.4PDX1
2diabetes mellitus, permanent neonatal31.1INS, ABCC8
3beckwith-wiedemann syndrome30.0ZFP57, PLAGL1, ABCC8
4hyperinsulinism29.9INS, KCNJ11, ABCC8
5diabetes mellitus, transient neonatal, 110.8
6diabetes mellitus, 6q24-related transient neonatal10.7
7pancreatitis10.6
8pancreatic beta cell agenesis with neonatal diabetes mellitus10.6
9paternal uniparental disomy of chromosome 610.5
10macroglossia10.4
11abcc8-related transient neonatal diabetes mellitus 210.4
12abcc8-related permanent neonatal diabetes mellitus10.4
13gck-related permanent neonatal diabetes mellitus10.4
14kcnj11-related permanent neonatal diabetes mellitus10.4
15pdx1-related permanent neonatal diabetes mellitus10.4
16ins-related permanent neonatal diabetes mellitus10.4
17permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis10.4
18dend syndrome10.4
19wolcott-rallison syndrome10.3
20hepatitis10.3
21diabetic ketoacidosis10.3
22congenital hypothyroidism10.3
23hypothyroidism10.3
24fanconi-bickel syndrome10.1
25diabetes mellitus, transient neonatal, 310.1
26hypertriglyceridemia10.1
27diabetes mellitus, transient neonatal 210.1
28thrombocytopenia10.1
29intestinal atresia10.1
30cerebritis10.1
31congenital diaphragmatic hernia10.1
32diarrhea10.1
33organic acidemia10.1
34pervasive developmental disorder10.1
35triple x syndrome10.1
36cerebellar agenesis10.1
37cerebellar hypoplasia10.1
38precocious puberty10.1
39diabetes mellitus, kcnj11-related transient neonatal10.1
40central precocious puberty10.1
41cerebral sinovenous thrombosis10.1
42intermediate dend syndrome10.1
43hyperammonemia multi-gene panels10.1ABCC8, KCNJ11
44hyperinsulinemic hypoglycemia, familial, 29.9INS, ABCC8
45glucose intolerance9.9PDX1, INS
46maturity-onset diabetes of the young9.8KCNJ11, PDX1, INS
47hypercholesterolemia, familial9.8PDX1, INS
48metabolic syndrome x9.8ABCC8, INS
49hyperinsulinemic hypoglycemia9.8ABCC8, KCNJ11, INS
50mody, type ii9.8KCNJ11, ABCC8, 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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Drug clinical trials:

Search ClinicalTrials for Neonatal Diabetes Mellitus

Search NIH Clinical Center for Neonatal Diabetes Mellitus

Genetic Tests for Neonatal Diabetes Mellitus

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Genetic tests related to Neonatal Diabetes Mellitus:

id Genetic test Affiliating Genes
1 Neonatal Diabetes Multi-Gene Panels20
2 Neonatal Diabetes Mellitus22

Anatomical Context for Neonatal Diabetes Mellitus

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MalaCards organs/tissues related to Neonatal Diabetes Mellitus:

31
Testes, Kidney, Pancreas, Brain, Heart

Animal Models for Neonatal Diabetes Mellitus or affiliated genes

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MGI Mouse Phenotypes related to Neonatal Diabetes Mellitus:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3ABCC8, KCNJ11, INS, PDX1
2MP:00053848.0PDX1, PLAGL1, ZFP57, INS
3MP:00107718.0KCNJ11, INS, PLAGL1, PDX1
4MP:00030127.7PDX1, PLAGL1, INS, KCNJ11, ABCC8
5MP:00107687.2KCNJ11, INS, ZFP57, PLAGL1, PDX1

Publications for Neonatal Diabetes Mellitus

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Articles related to Neonatal Diabetes Mellitus:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report. (25708516)
2015
2
Glycemic control indicators in patients with neonatal diabetes mellitus. (24748932)
2014
3
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. (24859512)
2014
4
Insulin pump therapy in transient neonatal diabetes mellitus. (24904869)
2013
5
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
6
Neonatal diabetes mellitus in China: a case report and review of the Chinese literature. (22144719)
2012
7
Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. (22547676)
2012
8
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
9
Improved long-term glucose control in neonatal diabetes mellitus after early sulfonylurea allergy. (22768668)
2012
10
Permanent neonatal diabetes mellitus. (23569512)
2012
11
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. (21823539)
2011
12
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
13
Glycated albumin but not HbA1c reflects glycaemic control in patients with neonatal diabetes mellitus. (21644010)
2011
14
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
15
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (21738553)
2011
16
Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report. (21274328)
2010
17
Mutations in pancreatic A9-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. (20878480)
2010
18
A case of transient neonatal diabetes mellitus. (21131807)
2010
19
Transient neonatal diabetes mellitus in an extremely preterm infant. (21686427)
2009
20
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
21
The usage of the personal insulin pump for treatment of a 7 week infant with neonatal diabetes mellitus]. (17239309)
2006
22
Glucose-monitoring with continuous subcutaneous microdialysis in neonatal diabetes mellitus. (16819705)
2006
23
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. (17220064)
2006
24
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (16885549)
2006
25
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. (16402210)
2006
26
Neonatal diabetes mellitus: from understudy to center stage. (16012265)
2005
27
From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. (16375017)
2005
28
Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice. (16459456)
2005
29
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
30
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. (15924231)
2005
31
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. (15286800)
2004
32
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
33
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. (14976569)
2003
34
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? (12014522)
2002
35
Understanding neonatal diabetes mellitus. (12378179)
2002
36
Neonatal diabetes mellitus. (15016165)
2002
37
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. (11448939)
2001
38
Neonatal diabetes mellitus due to complete glucokinase deficiency. (11372010)
2001
39
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (11137992)
2001
40
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. (10212083)
1999
41
Neonatal diabetes mellitus with hypergalactosemia. (10526252)
1999
42
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. (9894800)
1998
43
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. (9450188)
1997
44
Neonatal diabetes mellitus. (7494585)
1996
45
Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. (8597835)
1995
46
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
47
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
48
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. (1537364)
1992
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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Clinvar genetic disease variations for Neonatal Diabetes Mellitus:

6
id Gene Variation 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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Search GEO for disease gene expression data for Neonatal Diabetes Mellitus.

Pathways for genes affiliated with Neonatal Diabetes Mellitus

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

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6KCNJ11, ABCC8
29.6ABCC8, KCNJ11
39.6KCNJ11, ABCC8
4
Show member pathways
9.6KCNJ11, ABCC8
59.1PDX1, INS
6
Show member pathways
9.1PDX1, INS
7
Show member pathways
8.8ABCC8, KCNJ11, INS
8
Show member pathways
8.3ABCC8, KCNJ11, INS, PDX1
9
Show member pathways
8.3PDX1, INS, KCNJ11, ABCC8
108.3PDX1, INS, KCNJ11, ABCC8

Compounds for genes affiliated with Neonatal Diabetes Mellitus

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

(show all 31)
idCompoundScoreTop Affiliating Genes
1cibenzoline4310.0KCNJ11, ABCC8
2nicorandil43 2810.9ABCC8, KCNJ11
3mgadp439.9KCNJ11, ABCC8
4cromakalim43 2810.9ABCC8, KCNJ11
5minoxidil43 28 1211.9ABCC8, KCNJ11
6pip2439.6ABCC8, KCNJ11
7meglitinide439.6INS, ABCC8
8mitiglinide43 1210.6INS, ABCC8
9glipizide43 49 1211.5INS, ABCC8
10chlorpropamide43 49 1211.5ABCC8, INS
11nateglinide43 49 1211.4INS, ABCC8
12preproinsulin439.4PDX1, INS
13i-app439.4PDX1, INS
14incretin439.4INS, PDX1
15nicotinamide43 1210.3PDX1, INS
16streptozotocin439.2PDX1, INS
17repaglinide49 43 1211.2ABCC8, KCNJ11, INS
18gliclazide43 49 1211.2INS, KCNJ11, ABCC8
19glimepiride43 49 1211.2INS, KCNJ11, ABCC8
20diazoxide43 59 28 1212.2ABCC8, KCNJ11, INS
21tolbutamide43 28 49 1212.2INS, KCNJ11, ABCC8
22glibenclamide43 28 49 5912.1ABCC8, KCNJ11, INS
23metformin43 49 1211.1ABCC8, KCNJ11, INS
24octreotide43 59 28 1212.1PLAGL1, INS
25c-peptide439.0KCNJ11, INS, PDX1
26glutamate438.8INS, KCNJ11, ABCC8
27sulfonylurea438.7PDX1, INS, KCNJ11, ABCC8
28katp438.7PDX1, INS, KCNJ11, ABCC8
29testosterone43 59 24 1211.5PLAGL1, INS, ABCC8
30arginine438.5ABCC8, KCNJ11, INS
31glucose438.4ABCC8, KCNJ11, INS, PDX1

GO Terms for genes affiliated with Neonatal Diabetes Mellitus

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

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

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:00718059.3KCNJ11, ABCC8
2glucose homeostasisGO:00425939.1PDX1, INS
3endocrine pancreas developmentGO:00310189.0PDX1, INS
4regulation of insulin secretionGO:00507968.9INS, KCNJ11, ABCC8
5energy reserve metabolic processGO:00061128.9INS, KCNJ11, ABCC8
6glucose metabolic processGO:00060068.7KCNJ11, INS, PDX1

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

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

Products for genes affiliated with Neonatal Diabetes Mellitus

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Sources for Neonatal Diabetes Mellitus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet