MCID: NNT009
MIFTS: 53

Neonatal Diabetes Mellitus malady

Genetic diseases, Metabolic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Neonatal Diabetes Mellitus

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Wikipedia:65 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 permanent neonatal diabetes mellitus and pancreatic agenesis. An important gene associated with Neonatal Diabetes Mellitus is HPS1 (Hermansky-Pudlak syndrome 1), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics 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 renal/urinary system and endocrine/exocrine gland.

Aliases & Classifications for Neonatal Diabetes Mellitus

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Neonatal Diabetes Mellitus, Aliases & Descriptions:

Name: Neonatal Diabetes Mellitus 8 20 22 10 44 62
 
Diabetes Mellitus Syndrome in Newborn Infant 8 62


Classifications:



External Ids:

Disease Ontology8 DOID:11717
SNOMED-CT57 49817004
ICD9CM27 775.1

Related Diseases for Neonatal Diabetes Mellitus

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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
1permanent neonatal diabetes mellitus31.6ABCC8, KCNJ11, INS
2pancreatic agenesis31.4PDX1
3diabetes mellitus31.0INS, KCNJ11, ABCC8, GCK, PDX1
4type 1 diabetes mellitus30.3GCK, INS
5beckwith-wiedemann syndrome30.3ABCC8, PLAGL1, ZFP57
6transient neonatal diabetes mellitus11.0
7diabetes mellitus, 6q24-related transient neonatal10.7
8pancreatitis10.6
9pancreatic beta cell agenesis with neonatal diabetes mellitus10.6
10paternal uniparental disomy of chromosome 610.5
11macroglossia10.4
12diabetes mellitus, transient neonatal, 310.4
13hepatitis10.3
14diabetic ketoacidosis10.3
15congenital hypothyroidism10.3
16hypothyroidism10.3
17abcc8-related transient neonatal diabetes mellitus 210.3
18abcc8-related permanent neonatal diabetes mellitus10.3
19gck-related permanent neonatal diabetes mellitus10.3
20kcnj11-related permanent neonatal diabetes mellitus10.3
21pdx1-related permanent neonatal diabetes mellitus10.3
22ins-related permanent neonatal diabetes mellitus10.3
23thrombocytopenia10.1
24intestinal atresia10.1
25cerebritis10.1
26congenital diaphragmatic hernia10.1
27diarrhea10.1
28organic acidemia10.1
29pervasive developmental disorder10.1
30triple x syndrome10.1
31cerebellar agenesis10.1
32cerebellar hypoplasia10.1
33fanconi bickel syndrome10.1
34precocious puberty10.1
35diabetes mellitus, kcnj11-related transient neonatal10.1
36diabetes mellitus, neonatal, with congenital hypothyroidism10.1
37central precocious puberty10.1
38diabetes mellitus, insulin-dependent, neonatal10.1
39pancreatic and cerebellar agenesis10.1
40sepsis10.1
41hypertriglyceridemia10.1
42cerebral sinovenous thrombosis10.1
43intermediate dend syndrome10.1
44hyperinsulinemic hypoglycemia10.1INS, ABCC8
45hypercholesterolemia10.0PDX1, INS
46cystic fibrosis9.9KCNJ11, ABCC8, INS
47familial hyperinsulinism9.9ABCC8, KCNJ11, GCK
48hyperammonemia multi-gene panels9.9ABCC8, KCNJ11, GCK
49hyperuricemia9.8GCK, INS
50metabolic syndrome x9.7GCK, INS, ABCC8

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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1INS, HPS1, PDX1, GCK
2MP:00053797.8ABCC8, KCNJ11, INS, PDX1, GCK
3MP:00107717.8KCNJ11, INS, HPS1, PLAGL1, PDX1
4MP:00053787.6GCK, PDX1, PLAGL1, INS, KCNJ11
5MP:00030127.6PDX1, PLAGL1, HPS1, INS, KCNJ11, ABCC8
6MP:00053847.4INS, ZFP57, HPS1, PLAGL1, PDX1
7MP:00053767.4ABCC8, KCNJ11, INS, HPS1, PDX1, GCK
8MP:00107686.9KCNJ11, INS, ZFP57, HPS1, PLAGL1, PDX1

Publications for Neonatal Diabetes Mellitus

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Articles related to Neonatal Diabetes Mellitus:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Glycemic control indicators in patients with neonatal diabetes mellitus. (24748932)
2014
2
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. (24859512)
2014
3
Insulin pump therapy in transient neonatal diabetes mellitus. (24904869)
2013
4
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
5
Neonatal diabetes mellitus in China: a case report and review of the Chinese literature. (22144719)
2012
6
Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. (22547676)
2012
7
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
8
Improved long-term glucose control in neonatal diabetes mellitus after early sulfonylurea allergy. (22768668)
2012
9
Permanent neonatal diabetes mellitus. (23569512)
2012
10
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. (21823539)
2011
11
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
12
Glycated albumin but not HbA1c reflects glycaemic control in patients with neonatal diabetes mellitus. (21644010)
2011
13
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
14
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (21738553)
2011
15
Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report. (21274328)
2010
16
Mutations in pancreatic A9-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. (20878480)
2010
17
A case of transient neonatal diabetes mellitus. (21131807)
2010
18
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. (20412110)
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 Name Type Significance SNP ID Assembly Location
1NM_000207.2(INS): c.127T> G (p.Cys43Gly)single nucleotide variantLikely 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 pathogenicrs80356637GRCh37Chr 11, 17491666: 17491666

Expression for genes affiliated with Neonatal Diabetes Mellitus

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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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Pathways related to Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7KCNJ11, ABCC8
29.7KCNJ11, ABCC8
3
Show member pathways
9.7KCNJ11, ABCC8
4
Show member pathways
9.7ABCC8, KCNJ11
5
Show member pathways
9.3INS, GCK
6
Show member pathways
9.1ABCC8, KCNJ11, INS
79.0INS, PDX1
8
Show member pathways
8.5INS, PDX1, GCK
9
Show member pathways
8.5GCK, PDX1, INS
10
Show member pathways
7.7INS, KCNJ11, ABCC8, PDX1, GCK
117.7PDX1, INS, KCNJ11, ABCC8, GCK
12
Show member pathways
7.7ABCC8, KCNJ11, GCK, PDX1, INS

Compounds for genes affiliated with Neonatal Diabetes Mellitus

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

(show all 43)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.1KCNJ11, ABCC8
2nicorandil44 2811.1KCNJ11, ABCC8
3mgadp4410.0KCNJ11, ABCC8
4cromakalim44 2811.0ABCC8, KCNJ11
5minoxidil44 28 1112.0KCNJ11, ABCC8
6meglitinide449.9ABCC8, INS
7mitiglinide44 1110.8ABCC8, INS
8glipizide44 50 1111.8INS, ABCC8
9chlorpropamide44 50 1111.8ABCC8, INS
10pip2449.8KCNJ11, ABCC8
11nateglinide44 50 1111.8ABCC8, INS
12protamine449.7HPS1, INS
13chromium picolinate449.7INS, GCK
14aicar44 24 1111.6GCK, INS
152-deoxyglucose44 1110.5GCK, INS
16octreotide44 61 28 1112.5PLAGL1, INS
17repaglinide50 44 1111.5INS, KCNJ11, ABCC8
18gliclazide44 50 1111.5ABCC8, KCNJ11, INS
19glimepiride44 50 1111.5INS, KCNJ11, ABCC8
20glibenclamide44 28 50 6112.5INS, KCNJ11, ABCC8
21proglucagon449.5GCK, PDX1
22potassium44 24 1111.4ABCC8, KCNJ11, GCK
23nicotinamide44 1110.3PDX1, INS
24glycogen44 2410.2GCK, INS, ABCC8
25leucine449.2ABCC8, KCNJ11, GCK
26fatty acid449.2ABCC8, INS, GCK
27magnesium44 24 1111.1ABCC8, KCNJ11, GCK
28diazoxide44 61 28 1112.0GCK, INS, KCNJ11, ABCC8
29tolbutamide44 28 50 1112.0ABCC8, KCNJ11, INS, GCK
30metformin44 50 1111.0ABCC8, KCNJ11, INS, GCK
31cholesterol44 28 24 1112.0GCK, INS, ABCC8
32preproinsulin448.9GCK, PDX1, INS
33i-app448.9INS, PDX1, GCK
34incretin448.9GCK, PDX1, INS
35streptozotocin448.9INS, PDX1, GCK
36arginine448.9GCK, INS, KCNJ11, ABCC8
37glutamate448.8ABCC8, KCNJ11, INS, GCK
38testosterone44 61 24 1111.7PLAGL1, INS, ABCC8
39c-peptide448.5KCNJ11, INS, PDX1, GCK
40sulfonylurea448.2GCK, PDX1, INS, KCNJ11, ABCC8
41katp448.2ABCC8, KCNJ11, INS, PDX1, GCK
42serine448.1GCK, PDX1, INS, ABCC8
43glucose448.1GCK, PDX1, INS, KCNJ11, ABCC8

GO Terms for genes affiliated with Neonatal Diabetes Mellitus

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.7KCNJ11, ABCC8

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.6KCNJ11, ABCC8
2negative regulation of gluconeogenesisGO:0457219.5GCK, INS
3positive regulation of glycolytic processGO:0458219.4GCK, INS
4positive regulation of glycogen biosynthetic processGO:0457259.4GCK, INS
5detection of glucoseGO:0515949.4PDX1, GCK
6energy reserve metabolic processGO:0061129.3INS, KCNJ11, ABCC8
7positive regulation of insulin secretionGO:0320249.1PDX1, GCK
8glucose transportGO:0157589.0GCK, INS
9regulation of insulin secretionGO:0507968.8GCK, INS, KCNJ11, ABCC8
10glucose metabolic processGO:0060068.8KCNJ11, INS, PDX1
11endocrine pancreas developmentGO:0310188.8GCK, PDX1, INS
12glucose homeostasisGO:0425938.7GCK, PDX1, INS
13small molecule metabolic processGO:0442818.5GCK, INS, KCNJ11, ABCC8

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.7KCNJ11, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet