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	neonatal diabetes mellitus

Disease ID	679
Disease	neonatal diabetes mellitus
Definition	Hyperglycemia in the newborn due to a defect in the secretion or function of insulin.(NICHD)
Synonym	congenital diabetes mellitus diabetes mellitus syndrome in newborn infant neonat diabetes mellitus neonatal diabetes neonatal diabetes mellitus (disorder)
Orphanet	ORPHANET:224
DOID	DOID:11717
ICD10	ICD10CM:P70.2
UMLS	C0158981
SNOMED-CT	SNOMEDCT_US_2016_09_01:49817004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0020456 \| hyperglycemia \| 2 C0011847 \| diabetes \| 1 C0021828 \| intestinal atresia \| 1 C0016952 \| galactosemia \| 1 C0017601 \| glaucoma \| 1 C0025958 \| microcephaly \| 1 C0410528 \| skeletal dysplasia \| 1 C0020676 \| hypothyroidism \| 1 C0020302 \| congenital glaucoma \| 1 C0004775 \| bartter syndrome \| 1 C1096063 \| intractable epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6833 \| ABCC8 \| CLINVAR 3767 \| KCNJ11 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 6833 \| ABCC8 \| 6.965 \| DISEASES 10189 \| ALYREF \| 1.314 \| DISEASES 1028 \| CDKN1C \| 1.091 \| DISEASES 51596 \| CUTA \| 2.684 \| DISEASES 9077 \| DIRAS3 \| 1.157 \| DISEASES 2305 \| FOXM1 \| 2.724 \| DISEASES 50943 \| FOXP3 \| 2.518 \| DISEASES 2626 \| GATA4 \| 1.614 \| DISEASES 2641 \| GCG \| 2.379 \| DISEASES 169792 \| GLIS3 \| 5.417 \| DISEASES 2778 \| GNAS \| 1.973 \| DISEASES 149775 \| GNAS-AS1 \| 3.269 \| DISEASES 2887 \| GRB10 \| 2.042 \| DISEASES 3329 \| HSPD1 \| 1.253 \| DISEASES 57061 \| HYMAI \| 5.914 \| DISEASES 3481 \| IGF2 \| 1.223 \| DISEASES 3482 \| IGF2R \| 1.355 \| DISEASES 387755 \| INSC \| 1.253 \| DISEASES 3767 \| KCNJ11 \| 7.334 \| DISEASES 10984 \| KCNQ1OT1 \| 3.153 \| DISEASES 154288 \| KHDC3L \| 2.276 \| DISEASES 389692 \| MAFA \| 1.791 \| DISEASES 83552 \| MFRP \| 1.044 \| DISEASES 8972 \| MGAM \| 3.15 \| DISEASES 4537 \| MT-ND3 \| 1.054 \| DISEASES 4821 \| NKX2-2 \| 1.937 \| DISEASES 84504 \| NKX6-2 \| 1.583 \| DISEASES 55655 \| NLRP2 \| 2.607 \| DISEASES 199713 \| NLRP7 \| 2.45 \| DISEASES 147111 \| NOTUM \| 2.262 \| DISEASES 5078 \| PAX4 \| 2.246 \| DISEASES 5080 \| PAX6 \| 1.342 \| DISEASES 3651 \| PDX1 \| 4.729 \| DISEASES 5178 \| PEG3 \| 2.154 \| DISEASES 5324 \| PLAG1 \| 1.886 \| DISEASES 5325 \| PLAGL1 \| 5.783 \| DISEASES 10848 \| PPP1R13L \| 1.231 \| DISEASES 5538 \| PPT1 \| 2.157 \| DISEASES 256297 \| PTF1A \| 4.458 \| DISEASES 5923 \| RASGRF1 \| 2.393 \| DISEASES 222546 \| RFX6 \| 4.816 \| DISEASES 388015 \| RTL1 \| 1.765 \| DISEASES 10864 \| SLC22A7 \| 1.286 \| DISEASES 6514 \| SLC2A2 \| 3.262 \| DISEASES 9126 \| SMC3 \| 1.155 \| DISEASES 8676 \| STX11 \| 1.307 \| DISEASES 25870 \| SUMF2 \| 1.405 \| DISEASES 143425 \| SYT9 \| 2.43 \| DISEASES 6934 \| TCF7L2 \| 2.598 \| DISEASES 10422 \| UBAC1 \| 2.044 \| DISEASES 23038 \| WDTC1 \| 1.653 \| DISEASES 7485 \| WRB \| 1.462 \| DISEASES 162239 \| ZFP1 \| 1.865 \| DISEASES 346171 \| ZFP57 \| 5.79 \| DISEASES
Locus	(Waiting for update.)

Disease ID	679
Disease	neonatal diabetes mellitus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0002594 \| Underdeveloped pancreas \| 3 HP:0001631 \| Atria septal defect \| 2 HP:0003074 \| High blood glucose \| 2 HP:0002652 \| Skeletal dysplasia \| 1 HP:0001321 \| Small cerebellum \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0100578 \| Lipoatrophy \| 1 HP:0000110 \| Renal dysplasia \| 1 HP:0011100 \| Intestinal atresia \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0000501 \| Glaucoma \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0000252 \| Small head circumference \| 1 HP:0001087 \| Childhood glaucoma \| 1 HP:0000851 \| Congenital hypothyroidism \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	679
Disease	neonatal diabetes mellitus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0796095 \| c syndrome C0020456 \| hyperglycemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0020456 \| hyperglycemia \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:47)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852673	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17395915	G	T,A
rs141322087	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17404552	C	T
rs148529020	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17460613	C	T
rs1738248	18497752	6833	ABCC8	umls:C0158981	BeFree	A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.	0.13302921	2008	DNAH8	6	38786848	C	T
rs1738248	18497752	1769	DNAH8	umls:C0158981	BeFree	A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.	0.000271442	2008	DNAH8	6	38786848	C	T
rs193922396	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17442744	A	G
rs193922397	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17442734	T	C
rs193922399	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17404527	A	C
rs193922400	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17404524	C	T,A
rs193922401	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17395914	C	A
rs193922403	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17395215	G	C,A
rs193922406	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17393752	A	C
rs193922407	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17393741	C	T
rs193922408	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17393122	C	T
rs193922565	NA	3767	KCNJ11	umls:C0158981	CLINVAR	NA	0.149315722	NA	KCNJ11	11	17388087	A	G
rs193929337	16123353	3767	KCNJ11	umls:C0158981	BeFree	Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal diabetes (I182V) or more severe forms of permanent neonatal diabetes (V59M, Q52R, and I296L).	0.149315722	2005	KCNJ11	11	17387937	T	C
rs193929348	16123353	3767	KCNJ11	umls:C0158981	BeFree	Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal diabetes (I182V) or more severe forms of permanent neonatal diabetes (V59M, Q52R, and I296L).	0.149315722	2005	KCNJ11	11	17387548	T	C
rs193929353	16123353	3767	KCNJ11	umls:C0158981	BeFree	Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal diabetes (I182V) or more severe forms of permanent neonatal diabetes (V59M, Q52R, and I296L).	0.149315722	2005	KCNJ11	11	17387206	T	G,C
rs193929353	23835339	3767	KCNJ11	umls:C0158981	BeFree	In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the Kir6.2 ND mutations R210C, G334D, I296L, and V59M.	0.149315722	2013	KCNJ11	11	17387206	T	G,C
rs193929355	17919178	3767	KCNJ11	umls:C0158981	BeFree	Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.	0.149315722	2007	KCNJ11	11	17387128	C	T
rs193929358	23835339	3767	KCNJ11	umls:C0158981	BeFree	In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the Kir6.2 ND mutations R210C, G334D, I296L, and V59M.	0.149315722	2013	KCNJ11	11	17387091	C	T
rs193929358	17259376	3767	KCNJ11	umls:C0158981	BeFree	Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel.	0.149315722	2007	KCNJ11	11	17387091	C	T
rs193929373	16026363	2645	GCK	umls:C0158981	BeFree	To investigate the prevalence and clinical characteristics of heterozygotes of the glucokinase gene mutations G264S and IVS8+2 in the extended pedigree of two patients with permanent neonatal diabetes as a result of glucokinase deficiency (IVS8+2 homozygosity and IVS8+2/G264S compound heterozygosity).	0.002714419	2005	GCK;LOC105375258	7	44147723	C	T
rs193929375	15644838	3630	INS	umls:C0158981	BeFree	We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family.	0.019815257	2005	GCK	7	44145560	C	A
rs386597997	22187380	6833	ABCC8	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.13302921	2012	NA	NA	NA	NA	NA
rs386597997	22187380	3767	KCNJ11	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.149315722	2012	NA	NA	NA	NA	NA
rs5219	22187380	6833	ABCC8	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.13302921	2012	KCNJ11	11	17388025	T	C
rs5219	22187380	3767	KCNJ11	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.149315722	2012	KCNJ11	11	17388025	T	C
rs59852838	18346985	6833	ABCC8	umls:C0158981	BeFree	Overexpression of SUR1-Y356C in INS1(832/13) cells impaired glucose-induced cell depolarization and increased in intracellular free Ca(2+) concentration, albeit more weakly than neonatal diabetes-associated SUR1 mutants.	0.13302921	2008	ABCC8	11	17453228	T	C
rs757110	22187380	6833	ABCC8	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.13302921	2012	ABCC8	11	17396930	C	T,A
rs757110	22187380	3767	KCNJ11	umls:C0158981	BeFree	Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the common variants E23K (KCNJ11) and S1369A (ABCC8) form a tightly heritable haplotype that is associated with an increased susceptibility to type 2 diabetes (T2D) risk.	0.149315722	2012	ABCC8	11	17396930	C	T,A
rs80356610	15784703	3767	KCNJ11	umls:C0158981	BeFree	The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.	0.149315722	2005	KCNJ11	11	17387968	A	G
rs80356611	NA	3767	KCNJ11	umls:C0158981	CLINVAR	NA	0.149315722	NA	KCNJ11	11	17387943	C	T,G
rs80356615	18073297	3767	KCNJ11	umls:C0158981	BeFree	The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.	0.149315722	2008	KCNJ11	11	17387934	C	T
rs80356616	17047922	3767	KCNJ11	umls:C0158981	BeFree	Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.	0.149315722	2006	KCNJ11	11	17387917	C	T
rs80356616	23835339	3767	KCNJ11	umls:C0158981	BeFree	In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the Kir6.2 ND mutations R210C, G334D, I296L, and V59M.	0.149315722	2013	KCNJ11	11	17387917	C	T
rs80356616	16123353	3767	KCNJ11	umls:C0158981	BeFree	Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal diabetes (I182V) or more severe forms of permanent neonatal diabetes (V59M, Q52R, and I296L).	0.149315722	2005	KCNJ11	11	17387917	C	T
rs80356616	16670688	3767	KCNJ11	umls:C0158981	BeFree	We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H.	0.149315722	2006	KCNJ11	11	17387917	C	T
rs80356617	19139106	3767	KCNJ11	umls:C0158981	BeFree	Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.	0.149315722	2009	KCNJ11	11	17387916	A	C
rs80356618	16670688	3767	KCNJ11	umls:C0158981	BeFree	We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H.	0.149315722	2006	KCNJ11	11	17387595	C	T,A
rs80356621	17919178	3767	KCNJ11	umls:C0158981	BeFree	Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.	0.149315722	2007	KCNJ11	11	17387583	T	C
rs80356624	19345438	3767	KCNJ11	umls:C0158981	BeFree	Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet.	0.149315722	2009	KCNJ11	11	17387490	C	T,A
rs80356624	16670688	3767	KCNJ11	umls:C0158981	BeFree	We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H.	0.149315722	2006	KCNJ11	11	17387490	C	T,A
rs80356637	NA	6833	ABCC8	umls:C0158981	CLINVAR	NA	0.13302921	NA	ABCC8	11	17470119	A	G,C
rs80356671	24281154	3630	INS	umls:C0158981	BeFree	The approach involves the transgenic expression of a misfolded mutant of human preproinsulin, hINS(C96Y), which is a cause of permanent neonatal diabetes.	0.019815257	2014	INS;INS-IGF2	11	2159898	C	T,G
rs80356671	23416061	3630	INS	umls:C0158981	BeFree	Akita mice, which harbor a human permanent neonatal diabetes-linked mutation (Cys96Tyr) in the insulin gene, are well established as an animal model of diabetes caused by pancreatic ß cell exhaustion.	0.019815257	2013	INS;INS-IGF2	11	2159898	C	T,G
rs80356672	24279684	3630	INS	umls:C0158981	BeFree	Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.	0.019815257	2013	INS;INS-IGF2	11	2159862	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	679
Disease	neonatal diabetes mellitus
Case	(Waiting for update.)