MCID: DBT083
MIFTS: 48

Diabetes Mellitus, Permanent Neonatal malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal

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Aliases & Descriptions for Diabetes Mellitus, Permanent Neonatal:

Name: Diabetes Mellitus, Permanent Neonatal 49 11 67 65
Permanent Neonatal Diabetes Mellitus 21 45 22 23 51 24
Permanent Diabetes Mellitus of Infancy 21 45 22 67
Pndm 45 23 51 67
Diabetes Mellitus Permanent Neonatal with Neurologic Features 67 24
Developmental Delay Epilepsy and Neonatal Diabetes 67 24
 
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 49
Developmental Delay, Epilepsy, and Neonatal Diabetes 65
Monogenic Diabetes of Infancy 51
Diabetes, Permanent Neonatal 49
Pdmi 67
Dend 67

Characteristics:

Orphanet epidemiological data:

51
permanent neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Poland),1-9/1000000 (Netherlands),1-9/1000000 (Slovakia),1-9/1000000 (United States); Age of onset: Antenatal,Infancy,Neonatal

HPO:

61
diabetes mellitus, permanent neonatal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 606176
Orphanet51 99885
ICD10 via Orphanet28 P70.2
MeSH36 D003920
UMLS65 C1833104, C1853564

Summaries for Diabetes Mellitus, Permanent Neonatal

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OMIM:49 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a... (606176) more...

MalaCards based summary: Diabetes Mellitus, Permanent Neonatal, also known as permanent neonatal diabetes mellitus, is related to abcc8-related permanent neonatal diabetes mellitus and gck-related permanent neonatal diabetes mellitus, and has symptoms including clinodactyly, peripheral neuropathy and radial deviation of finger. An important gene associated with Diabetes Mellitus, Permanent Neonatal is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways are ABC-family proteins mediated transport and Inwardly rectifying K+ channels. Affiliated tissues include pancreas, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Genetics Home Reference:23 Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.

NIH Rare Diseases:45 Permanent neonatal diabetes mellitus (pndb) is a type of diabetes that appears within the first 6 months of life and persists throughout life. affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with pndb, it is called dend syndrome. a few individuals with pndb also have an underdeveloped pancreas and may have digestive problems. pndb is caused by mutations in any one of several genes (some of which have not yet been identified) including the kcnj11, abcc8, and ins genes. it may be inherited in an autosomal recessive or autosomal dominant manner. treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases). last updated: 8/24/2012

UniProtKB/Swiss-Prot:67 Diabetes mellitus, permanent neonatal: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.

GeneReviews summary for NBK1447

Related Diseases for Diabetes Mellitus, Permanent Neonatal

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Diseases in the Diabetes Mellitus, Permanent Neonatal family:

Abcc8-Related Permanent Neonatal Diabetes Mellitus Gck-Related Permanent Neonatal Diabetes Mellitus
Ins-Related Permanent Neonatal Diabetes Mellitus Kcnj11-Related Permanent Neonatal Diabetes Mellitus
Pdx1-Related Permanent Neonatal Diabetes Mellitus

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1abcc8-related permanent neonatal diabetes mellitus12.7
2gck-related permanent neonatal diabetes mellitus12.7
3ins-related permanent neonatal diabetes mellitus12.7
4kcnj11-related permanent neonatal diabetes mellitus12.7
5pdx1-related permanent neonatal diabetes mellitus12.7
6permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome12.7
7dend syndrome12.3
8intermediate dend syndrome12.3
9pancreatic and cerebellar agenesis11.9
10osteochondroma10.4
11neonatal diabetes mellitus10.3
12colorectal cancer10.3
13breast cancer10.3
14isovaleric acidemia10.3
15temporal arteritis10.3
16eclampsia10.3
17placental abruption10.3
18burns10.2
19corneal neovascularization10.2
20maturity-onset diabetes of the young, type 1310.0ABCC8, KCNJ11
21neuronitis10.0
22anoxia10.0
23usher syndrome, type 1c10.0ABCC8, KCNJ11
24diabetes mellitus, transient neonatal, 310.0ABCC8, KCNJ11
25sparse hair-short stature-skin anomalies syndrome9.9ABCC8, KCNJ11
26acute insulin response9.7ABCC8, INS, KCNJ11
27nephronophthisis 199.7ABCC8, INS, KCNJ11
28aphasia9.6ABCC8, GCK, KCNJ11
29conversion disorder9.6ABCC8, GCK, KCNJ11
30perlman syndrome9.6ABCC8, GCK, KCNJ11
31primary hypertrophic osteoarthropathy9.6ABCC8, GCK, KCNJ11
32hepatic flexure cancer9.5ABCC8, GCK, KCNJ11
33organic acidemia9.5ABCC8, GCK, KCNJ11
34lactose intolerance9.4GCK, INS
35fragile x-associated tremor/ataxia syndrome9.4ABCC8, INS, KCNJ11, PDX1
36prediabetes syndrome9.3GCK, INS, KCNJ11
37obesity9.3ABCC8, GCK, INS
38chronic follicular conjunctivitis9.2ABCC8, GCK, INS, KCNJ11
39hyperglycemia9.2ABCC8, GCK, INS, KCNJ11
40placental choriocarcinoma9.2ABCC8, GCK, INS, KCNJ11
41transmitted_by9.2ABCC8, GCK, INS, KCNJ11
42intermittent claudication9.2ABCC8, GCK, INS, PDX1
43monomelic amyotrophy8.9ABCC8, GCK, INS, KCNJ11, PDX1
44diaphanospondylodysostosis8.9ABCC8, GCK, INS, KCNJ11, PDX1
45antidepressant type abuse8.9ABCC8, GCK, INS, KCNJ11, PDX1
46femoral neuropathy8.9ABCC8, GCK, INS, KCNJ11, PDX1
47nonphotosensitive trichothiodystrophy8.9ABCC8, GCK, INS, KCNJ11, PDX1
48hepatic adenoma, somatic8.9ABCC8, GCK, INS, KCNJ11, PDX1
49diabetes mellitus, noninsulin-dependent8.9ABCC8, GCK, INS, KCNJ11, PDX1

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



Diseases related to diabetes mellitus, permanent neonatal

Symptoms for Diabetes Mellitus, Permanent Neonatal

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Symptoms by clinical synopsis from OMIM:

606176

Clinical features from OMIM:

606176

HPO human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

(show all 24)
id Description Frequency HPO Source Accession
1 clinodactyly HP:0030084
2 peripheral neuropathy HP:0009830
3 radial deviation of finger HP:0009466
4 muscular hypotonia of the trunk HP:0008936
5 beta-cell dysfunction HP:0006279
6 prominent metopic ridge HP:0005487
7 short nose HP:0003196
8 limb joint contracture HP:0003121
9 hyperglycemia HP:0003074
10 abnormality of the immune system HP:0002715
11 downturned corners of mouth HP:0002714
12 hypsarrhythmia HP:0002521
13 ketoacidosis HP:0001993
14 small for gestational age HP:0001518
15 intrauterine growth retardation HP:0001511
16 muscle weakness HP:0001324
17 motor delay HP:0001270
18 global developmental delay HP:0001263
19 seizures HP:0001250
20 diabetes mellitus HP:0000819
21 abnormality of the ear HP:0000598
22 ptosis HP:0000508
23 anteverted nares HP:0000463
24 long philtrum HP:0000343

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal

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Drugs for Diabetes Mellitus, Permanent Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlyburideapprovedPhase 4, Phase 210710238-21-83488
Synonyms:
1-((P-(2-(5-chloro-O-Anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea
1-((p-(2-(5-Chloro-o-anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea
1-(P-(2-(5-chloro-2-Methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea
1-(p-(2-(5-Chloro-2-methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea
10238-21-8
5-Chloro-N-[4-(cyclohexylureidosulfonyl)phenethyl]-2-methoxybenzamide
5-chloro-N-(2-(4-((((Cyclohexylamino)carbonyl)amino)sulfonyl)phenyl)ethyl)-2-methoxybenzamide
5-chloro-N-[2-[4-(cyclohexylcarbamoylsulfamoyl)phenyl]ethyl]-2-methoxybenzamide
AB00051949
AC1L1G1Q
AC1Q44V7
AKOS001487495
Abbenclamide
Adiab
Apo-Glibenclamide
Azuglucon
BIDD:GT0239
BPBio1_000344
BRD-K36927236-001-06-0
BRN 2230085
BSPBio_000312
BSPBio_001351
BSPBio_003053
Bastiverit
Benclamin
Betanase
Betanese 5
Bio-0156
Bio1_000076
Bio1_000565
Bio1_001054
Bio2_000071
Bio2_000551
C07022
C23H28ClN3O5S
CAS-10238-21-8
CBiol_001790
CHEBI:5441
CHEMBL472
CID3488
CPD000058229
Calabren
Cytagon
D00336
D005905
DB01016
Daonil
Debtan
Dia-basan
Diabeta
Diabeta (TN)
Diabiphage
Dibelet
DivK1c_000481
Duraglucon
EINECS 233-570-6
EU-0100499
Euclamin
Euglucan
Euglucon
Euglucon 5
Euglucon N
Euglykon
G 0639
G0639_SIAL
G0639_SIGMA
G2539_SIAL
GBN 5
Gen-Glybe
Gewaglucon
Gilemal
Glamide
Glibadone
Gliban
Gliben
Gliben-Puren N
Glibenbeta
Glibenclamid AL
Glibenclamid Basics
Glibenclamid Fabra
Glibenclamid Genericon
Glibenclamid Heumann
Glibenclamid Riker M
Glibenclamid Riker M.
Glibenclamid-Cophar
Glibenclamid-Ratiopharm
Glibenclamida
Glibenclamida [INN-Spanish]
Glibenclamide
Glibenclamide (JP15/INN)
Glibenclamidum
Glibenclamidum [INN-Latin]
Glibenil
Glibens
Glibesyn
Glibet
Glibetic
Glibil
Gliboral
Glicem
Glidiabet
Glimel
Glimide
Glimidstata
Glisulin
Glitisol
Glubate
Gluben
Gluco-Tablimen
Glucobene
Glucohexal
Glucolon
Glucomid
Glucoremed
Glucoven
Glyben
Glybenclamide
Glybenzcyclamide
Glyburide
Glyburide (USP)
Glyburide (micronized)
Glyburide [USAN]
 
Glycolande
Glycomin
Glynase
Glynase (TN)
HB 419
HB 420
HB-419
HB-420
HB419
HB420
HMS1361D13
HMS1568P14
HMS1791D13
HMS1922L08
HMS1989D13
HMS2089L06
HMS2093P04
HMS501I03
Hemi-Daonil
Hexaglucon
Humedia
I06-0716
IDI1_000481
IDI1_033821
KBio1_000481
KBio2_000071
KBio2_000730
KBio2_002639
KBio2_003298
KBio2_005207
KBio2_005866
KBio3_000141
KBio3_000142
KBio3_002273
KBioGR_000071
KBioGR_001897
KBioSS_000071
KBioSS_000730
LS-159295
Lederglib
Libanil
Lisaglucon
Lopac-G-0639
Lopac0_000499
MLS000069721
MLS001077262
Malix
Maninil
Med-Glionil
Melix
Micronase
Micronase (TN)
Micronized glyburide
Miglucan
MolPort-000-784-850
N-(4-(2-(5-Chloro-2-methoxybenzamido)ethyl)phenylsulfonyl)-N'-cyclohexylurea
N-p-[2-(5-Chloro-2-methoxybenzamido)-ethyl]benzene-sulfonyl-N -cyclohexylurea
N-p-[2-(5-Chloro-2-methoxybenzamido)ethyl]benzenesulfonyl-N'-cyclohexylurea
NCGC00015467-01
NCGC00015467-02
NCGC00015467-06
NCGC00015467-16
NCGC00016689-01
NCGC00023447-02
NCGC00023447-04
NCGC00023447-05
NCGC00023447-06
NCGC00023447-07
NCGC00023447-08
NCGC00023447-09
NCGC00023447-10
NCGC00023447-11
NCGC00023447-12
NINDS_000481
Nadib
Neogluconin
Norglicem 5
Normoglucon
Novo-Glyburide
Oprea1_764617
Orabetic
Pira
Praeciglucon
PresTab
Prestwick0_000316
Prestwick1_000316
Prestwick2_000316
Prestwick3_000316
Prestwick_569
Probes1_000431
Probes2_000378
Prodiabet
Renabetic
S1716_Selleck
SAM002564212
SMR000058229
SPBio_001831
SPBio_002531
SPECTRUM2300229
SR-01000000196-5
STK362992
Semi-Daonil
Semi-Euglucon
Semi-Gliben-Puren N
Semi-daonil
Spectrum2_001816
Spectrum3_001327
Spectrum4_001199
Spectrum5_001631
Spectrum_000250
Sugril
Suraben
Tiabet
Tocris-0911
U 26452
U-26452
UNII-SX6K58TVWC
UPCMLD-DP006
UPCMLD-DP006:001
UR 606
Yuglucon
ZINC00537805
glibenclamide
glyburide
2Insulin, Globin ZincPhase 4, Phase 24278
3insulinPhase 4, Phase 24278
4Glucagon-Like Peptide 1Phase 4620
5glucagonPhase 4379
6Hypoglycemic AgentsPhase 24503

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long-Term Sulfonylurea Response in KCNJ11 Neonatal DiabetesEnrolling by invitationNCT02624817Phase 4
2Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR)Enrolling by invitationNCT02624830Phase 4
3Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes MellitusCompletedNCT00610038Phase 2
4Sulfonylurea Response in Patients With Diabetes Due to Kir6.2 MutationsCompletedNCT00334711
5Genetic Modifiers of Cystic Fibrosis Related DiabetesRecruitingNCT01113216
6Antenatal Development Evaluated ProspectivelyNot yet recruitingNCT02478554

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal

Genetic Tests for Diabetes Mellitus, Permanent Neonatal

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Genetic tests related to Diabetes Mellitus, Permanent Neonatal:

id Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus22 PDX1

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

33
Pancreas

Animal Models for Diabetes Mellitus, Permanent Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3ABCC8, INS, KCNJ11, PDX1
2MP:00053797.7ABCC8, GCK, INS, KCNJ11, PDX1
3MP:00053767.5ABCC8, GCK, INS, KCNJ11, PDX1

Publications for Diabetes Mellitus, Permanent Neonatal

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Variations for Diabetes Mellitus, Permanent Neonatal

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal:

67 (show all 60)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Leu213ArgVAR_029779
3ABCC8p.Ile1424ValVAR_029787
4ABCC8p.Val86AlaVAR_031354
5ABCC8p.Gly1400ArgVAR_031380
6ABCC8p.Pro45LeuVAR_072928
7ABCC8p.Asn72SerVAR_072929
8ABCC8p.Val86GlyVAR_072930
9ABCC8p.Phe132ValVAR_072931
10ABCC8p.Pro207SerVAR_072932
11ABCC8p.Glu208LysVAR_072933
12ABCC8p.Asp209GluVAR_072934
13ABCC8p.Gln211LysVAR_072935
14ABCC8p.Leu225ProVAR_072936
15ABCC8p.Thr229IleVAR_072937
16ABCC8p.Tyr263AspVAR_072938
17ABCC8p.Glu382LysVAR_072939
18ABCC8p.Ala1184GluVAR_072944
19ABCC8p.Glu1326LysVAR_072945
20ABCC8p.Val1522LeuVAR_072953
21INSp.Ala24AspVAR_063723rs80356663
22INSp.His29AspVAR_063724rs121908272
23INSp.Gly32ArgVAR_063725rs80356664
24INSp.Gly32SerVAR_063726rs80356664
25INSp.Leu35ProVAR_063727rs121908273
26INSp.Cys43GlyVAR_063728rs80356666
27INSp.Gly47ValVAR_063730rs80356667
28INSp.Phe48CysVAR_063731rs80356668
29INSp.Arg89CysVAR_063735rs80356669
30INSp.Gly90CysVAR_063736rs80356670
31INSp.Cys96SerVAR_063737rs80356671
32INSp.Cys96TyrVAR_063738rs80356671
33INSp.Ser101CysVAR_063739rs121908276
34INSp.Tyr103CysVAR_063740rs121908277
35INSp.Tyr108CysVAR_063741rs80356672
36KCNJ11p.Phe35LeuVAR_026498
37KCNJ11p.Phe35ValVAR_026499
38KCNJ11p.Arg50ProVAR_026500
39KCNJ11p.Gln52ArgVAR_026501
40KCNJ11p.Val59GlyVAR_026504
41KCNJ11p.Val59MetVAR_026505
42KCNJ11p.Lys170AsnVAR_026508
43KCNJ11p.Lys170ArgVAR_026509
44KCNJ11p.Arg201CysVAR_026511
45KCNJ11p.Arg201HisVAR_026512
46KCNJ11p.Ile296LeuVAR_026514
47KCNJ11p.Glu322LysVAR_026515
48KCNJ11p.Tyr330CysVAR_026516
49KCNJ11p.Phe333IleVAR_026517
50KCNJ11p.His46TyrVAR_031332
51KCNJ11p.Arg50GlnVAR_031333
52KCNJ11p.Gly53AspVAR_031334
53KCNJ11p.Leu164ProVAR_031341
54KCNJ11p.Cys166TyrVAR_031342
55KCNJ11p.Lys170ThrVAR_031343
56KCNJ11p.Arg201LeuVAR_031344
57KCNJ11p.Tyr330SerVAR_031348
58KCNJ11p.Phe60TyrVAR_073681
59KCNJ11p.Val64LeuVAR_073682
60KCNJ11p.Ile167LeuVAR_073684

Clinvar genetic disease variations for Diabetes Mellitus, Permanent Neonatal:

5 (show all 65)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000207.2(INS): c.287G> A (p.Cys96Tyr)single nucleotide variantPathogenicrs80356671GRCh37Chr 11, 2181128: 2181128
2NM_000207.2(INS): c.71C> A (p.Ala24Asp)single nucleotide variantPathogenicrs80356663GRCh37Chr 11, 2182131: 2182131
3NM_000207.2(INS): c.143T> G (p.Phe48Cys)single nucleotide variantPathogenicrs80356668GRCh37Chr 11, 2182059: 2182059
4GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)single nucleotide variantPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
5GCKNM_000162.3(GCK): c.629T> A (p.Met210Lys)single nucleotide variantPathogenicrs80356654GRCh37Chr 7, 44189409: 44189409
6GCKNM_000162.3(GCK): c.1019+2T> Gsingle nucleotide variantPathogenicrs193929376GRCh37Chr 7, 44186060: 44186060
7GCKNM_000162.3(GCK): c.1133C> T (p.Ala378Val)single nucleotide variantPathogenicrs193929374GRCh37Chr 7, 44185216: 44185216
8GCKNM_000162.3(GCK): c.1190G> T (p.Arg397Leu)single nucleotide variantPathogenicrs193929375GRCh37Chr 7, 44185159: 44185159
9GCKNM_000162.3(GCK): c.790G> A (p.Gly264Ser)single nucleotide variantPathogenicrs193929373GRCh37Chr 7, 44187322: 44187322
10NM_000207.2(INS): c.127T> G (p.Cys43Gly)single nucleotide variantPathogenicrs80356666GRCh37Chr 11, 2182075: 2182075
11NM_000207.2(INS): c.140G> T (p.Gly47Val)single nucleotide variantPathogenicrs80356667GRCh37Chr 11, 2182062: 2182062
12NM_000207.2(INS): c.265C> T (p.Arg89Cys)single nucleotide variantPathogenicrs80356669GRCh37Chr 11, 2181150: 2181150
13NM_000207.2(INS): c.268G> T (p.Gly90Cys)single nucleotide variantPathogenicrs80356670GRCh37Chr 11, 2181147: 2181147
14NM_000207.2(INS): c.188-31G> Asingle nucleotide variantPathogenicrs797045623GRCh38Chr 11, 2160028: 2160028
15NM_000207.2(INS): c.323A> G (p.Tyr108Cys)single nucleotide variantPathogenicrs80356672GRCh37Chr 11, 2181092: 2181092
16NM_000207.2(INS): c.94G> A (p.Gly32Ser)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
17NM_000207.2(INS): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
18NM_000209.3(PDX1): c.188delC (p.Pro63Argfs)deletionPathogenicrs193929377GRCh37Chr 13, 28494463: 28494463
19ABCC8NM_000352.4(ABCC8): c.257T> C (p.Val86Ala)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466
20ABCC8NM_000352.4(ABCC8): c.394T> G (p.Phe132Val)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
21ABCC8NM_000352.4(ABCC8): c.404T> C (p.Leu135Pro)single nucleotide variantPathogenicrs193929364GRCh37Chr 11, 17491656: 17491656
22ABCC8NM_000352.4(ABCC8): c.627C> A (p.Asp209Glu)single nucleotide variantPathogenicrs80356640GRCh37Chr 11, 17483325: 17483325
23ABCC8NM_000352.4(ABCC8): c.631C> A (p.Gln211Lys)single nucleotide variantPathogenicrs193929366GRCh37Chr 11, 17483321: 17483321
24ABCC8NM_000352.4(ABCC8): c.674T> C (p.Leu225Pro)single nucleotide variantPathogenicrs1048095GRCh37Chr 11, 17483278: 17483278
25KCNJ11NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs193929358GRCh37Chr 11, 17408638: 17408638
26KCNJ11NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
27KCNJ11NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
28KCNJ11NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg)single nucleotide variantPathogenicrs193929337GRCh37Chr 11, 17409484: 17409484
29KCNJ11NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
30KCNJ11NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val)single nucleotide variantPathogenicrs193929348GRCh37Chr 11, 17409095: 17409095
31KCNJ11NM_000525.3(KCNJ11): c.602G> T (p.Arg201Leu)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
32KCNJ11NM_000525.3(KCNJ11): c.755T> C (p.Val252Ala)single nucleotide variantPathogenicrs193929352GRCh37Chr 11, 17408884: 17408884
33KCNJ11NM_000525.3(KCNJ11): c.886A> C (p.Ile296Leu)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
34KCNJ11NM_000525.3(KCNJ11): c.886A> G (p.Ile296Val)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
35KCNJ11NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys)single nucleotide variantPathogenicrs193929355GRCh37Chr 11, 17408675: 17408675
36KCNJ11NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys)single nucleotide variantPathogenicrs193929356GRCh37Chr 11, 17408650: 17408650
37KCNJ11NM_000525.3(KCNJ11): c.997T> A (p.Phe333Ile)single nucleotide variantPathogenicrs193929357GRCh37Chr 11, 17408642: 17408642
38NM_000207.2(INS): c.*59A> Gsingle nucleotide variantPathogenicrs397515519GRCh37Chr 11, 2181023: 2181023
39INSNM_000207.2(INS): c.-218A> Csingle nucleotide variantPathogenicrs397515520GRCh37Chr 11, 2182598: 2182598
40INSNM_000207.2: c.-331C> Asingle nucleotide variantPathogenic
41INSNM_000207.2: c.-331C> Gsingle nucleotide variantPathogenic
42NM_000207.2(INS): c.-366_343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
43INSNM_000207.2: c.-370-?186+?deldeletionPathogenic
44NM_000207.2(INS): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
45NM_000207.2(INS): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
46KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
47KCNJ11NM_000525.3(KCNJ11): c.175G> A (p.Val59Met)single nucleotide variantPathogenicrs80356616GRCh37Chr 11, 17409464: 17409464
48KCNJ11NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs80356625GRCh37Chr 11, 17409038: 17409038
49KCNJ11NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly)single nucleotide variantPathogenicrs80356617GRCh37Chr 11, 17409463: 17409463
50KCNJ11NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro)single nucleotide variantPathogenicrs80356611GRCh37Chr 11, 17409490: 17409490
51KCNJ11NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg)single nucleotide variantPathogenicrs80356621GRCh37Chr 11, 17409130: 17409130
52KCNJ11NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn)single nucleotide variantPathogenicrs80356622GRCh37Chr 11, 17409129: 17409129
53KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
54KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
55KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
56KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
57ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
58ABCC8NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
59ABCC8NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
60ABCC8NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
61ABCC8NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
62ABCC8NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
63ABCC8NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
64ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
65ABCC8NM_000352.4(ABCC8): c.257T> G (p.Val86Gly)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466

Expression for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

Pathways for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5ABCC8, KCNJ11
2
Show member pathways
9.5ABCC8, KCNJ11
39.5ABCC8, KCNJ11
4
Show member pathways
9.5ABCC8, KCNJ11
59.5ABCC8, KCNJ11
69.3INS, PDX1
7
Show member pathways
8.9ABCC8, INS, KCNJ11
8
Show member pathways
8.7ABCC8, GCK, KCNJ11
9
Show member pathways
8.5GCK, INS, PDX1
10
Show member pathways
8.5GCK, INS, PDX1
11
Show member pathways
7.5ABCC8, GCK, INS, KCNJ11, PDX1
12
Show member pathways
7.5ABCC8, GCK, INS, KCNJ11, PDX1
137.5ABCC8, GCK, INS, KCNJ11, PDX1

GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1endocrine pancreas developmentGO:00310189.6INS, PDX1
2positive regulation of glycolytic processGO:00458219.6GCK, INS
3positive regulation of glycogen biosynthetic processGO:00457259.5GCK, INS
4negative regulation of gluconeogenesisGO:00457219.5GCK, INS
5detection of glucoseGO:00515949.5GCK, PDX1
6glucose metabolic processGO:00060069.4INS, KCNJ11
7glucose transportGO:00157589.3GCK, INS
8response to glucoseGO:00097499.2GCK, PDX1
9glucose homeostasisGO:00425939.1GCK, PDX1
10regulation of insulin secretionGO:00507968.4ABCC8, GCK, INS

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

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:00152729.5ABCC8, KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet