MCID: DBT083
MIFTS: 53

Diabetes Mellitus, Permanent Neonatal malady

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal

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Aliases & Descriptions for Diabetes Mellitus, Permanent Neonatal:

Name: Diabetes Mellitus, Permanent Neonatal 51 69 12 67
Permanent Neonatal Diabetes Mellitus 11 23 47 24 25 53 26
Pndm 11 47 25 53 69
Permanent Diabetes Mellitus of Infancy 11 47 24 69
Diabetes Mellitus Permanent Neonatal with Neurologic Features 69 26
Developmental Delay Epilepsy and Neonatal Diabetes 69 26
Pdmi 11 69
 
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 51
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 53
Developmental Delay, Epilepsy, and Neonatal Diabetes 67
Monogenic Diabetes of Infancy 53
Diabetes, Permanent Neonatal 51
Dend Syndrome 53
Dend 69

Characteristics:

Orphanet epidemiological data:

53
developmental delay-epilepsy-neonatal diabetes syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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:

63
diabetes mellitus, permanent neonatal:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007]...


Classifications:



External Ids:

OMIM51 606176
Disease Ontology11 DOID:0060639
ICD10 via Orphanet30 P70.2
MeSH38 D003920

Summaries for Diabetes Mellitus, Permanent Neonatal

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OMIM:51 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 neonatal diabetes mellitus and abcc8-related permanent neonatal diabetes mellitus, and has symptoms including Array, Array and Array. An important gene associated with Diabetes Mellitus, Permanent Neonatal is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include pancreas and heart, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Disease Ontology:11 A neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.

Genetics Home Reference:25 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:47 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:69 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 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 36)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus28.9GCK, INS, KCNJ11
2abcc8-related permanent neonatal diabetes mellitus12.2
3gck-related permanent neonatal diabetes mellitus12.2
4ins-related permanent neonatal diabetes mellitus12.2
5kcnj11-related permanent neonatal diabetes mellitus12.2
6pdx1-related permanent neonatal diabetes mellitus12.2
7intermediate dend syndrome12.0
8pancreatic and cerebellar agenesis11.3
9epilepsy10.0
10maturity-onset diabetes of the young, type 1310.0ABCC8, KCNJ11
11usher syndrome, type 1c10.0ABCC8, KCNJ11
12hemimegalencephaly9.9ABCC8, KCNJ11
13alstrom syndrome9.8INS, KCNJ11
14retinitis pigmentosa 689.6ABCC8, INS
15diabetes mellitus, transient neonatal, 39.6ABCC8, INS, KCNJ11
16acute insulin response9.5ABCC8, INS, KCNJ11
17nephronophthisis 199.5ABCC8, INS, KCNJ11
18writing disorder9.5ABCC8, GCK, KCNJ11
19perlman syndrome9.4ABCC8, GCK, KCNJ11
2018p deletion syndrome9.2ABCC8, GCK, KCNJ11
21labyrinthine bilateral reactive loss9.2GCK, INS
22intraocular lymphoma9.2ABCC8, GCK, INS
23toxic megacolon8.9ABCC8, GCK, INS, KCNJ11
24patellofemoral pain syndrome8.9ABCC8, GCK, INS, KCNJ11
25anatomical narrow angle borderline glaucoma8.9ABCC8, GCK, INS, KCNJ11
26gestational choriocarcinoma8.9ABCC8, GCK, INS, KCNJ11
27short bowel syndrome8.9ABCC8, GCK, INS, KCNJ11
28femoral neuropathy8.9ABCC8, GCK, INS, KCNJ11
29survival motor neuron spinal muscular atrophy8.9ABCC8, GCK, INS, KCNJ11
30hypertrichosis8.9ABCC8, GCK, INS, KCNJ11
31proximal chromosome 18q deletion syndrome8.5ABCC8, GCK, INS, KCNJ11, PDX1
32diaphanospondylodysostosis8.5ABCC8, GCK, INS, KCNJ11, PDX1
33inclusion body myopathy with paget disease of bone and frontotemporal dementia8.5ABCC8, GCK, INS, KCNJ11, PDX1
34hyperlipoproteinemia type iv8.5ABCC8, GCK, INS, KCNJ11, PDX1
35diabetes mellitus, noninsulin-dependent8.4ABCC8, GCK, INS, KCNJ11, PDX1
36hepatic adenoma, somatic8.4ABCC8, 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

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

 53 63 (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal tubular dysfunction53 Occasional (29-5%)
2 hearing impairment53 Occasional (29-5%)
3 retinopathy53 Frequent (79-30%)
4 neonatal insulin-dependent diabetes mellitus53 Very frequent (99-80%)
5 intellectual disability53 Frequent (79-30%)
6 ataxia53 Occasional (29-5%)
7 muscular hypotonia53 Occasional (29-5%)
8 coma53 Occasional (29-5%)
9 motor delay63 53 Frequent (79-30%) HP:0001270
10 global developmental delay63 53 Frequent (79-30%) HP:0001263
11 generalized tonic-clonic seizures53 Frequent (79-30%)
12 bilateral ptosis53 Frequent (79-30%)
13 failure to thrive53 Very frequent (99-80%)
14 intrauterine growth retardation63 53 Frequent (79-30%) HP:0001511
15 abnormal heart morphology53 Frequent (79-30%)
16 weight loss53 Very frequent (99-80%)
17 dehydration53 Very frequent (99-80%)
18 apraxia53 Occasional (29-5%)
19 pancreatic hypoplasia53 Occasional (29-5%)
20 downturned corners of mouth63 53 Frequent (79-30%) HP:0002714
21 arthrogryposis multiplex congenita53 Frequent (79-30%)
22 ketonuria53 Frequent (79-30%)
23 hyperglycemia63 53 Very frequent (99-80%) HP:0003074
24 glycosuria53 Very frequent (99-80%)
25 peripheral axonal neuropathy53 Occasional (29-5%)
26 prominent metopic ridge63 53 Frequent (79-30%) HP:0005487
27 contractures of the joints of the lower limbs53 Frequent (79-30%)
28 reduced pancreatic beta cells53 Very frequent (99-80%)
29 generalized myoclonic seizures53 Frequent (79-30%)
30 intellectual disability, severe53 Occasional (29-5%)
31 abnormality of the upper urinary tract53 Occasional (29-5%)
32 hypovolemia53 Very frequent (99-80%)
33 microalbuminuria53 Frequent (79-30%)
34 neurodevelopmental delay53 Frequent (79-30%)
35 long philtrum63 HP:0000343
36 anteverted nares63 HP:0000463
37 ptosis63 HP:0000508
38 abnormality of the ear63 HP:0000598
39 diabetes mellitus63 HP:0000819
40 seizures63 HP:0001250
41 muscle weakness63 HP:0001324
42 small for gestational age63 HP:0001518
43 ketoacidosis63 HP:0001993
44 hypsarrhythmia63 HP:0002521
45 abnormality of the immune system63 HP:0002715
46 limb joint contracture63 HP:0003121
47 short nose63 HP:0003196
48 beta-cell dysfunction63 HP:0006279
49 muscular hypotonia of the trunk63 HP:0008936
50 radial deviation of finger63 HP:0009466
51 peripheral neuropathy63 HP:0009830
52 clinodactyly63 HP:0030084

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:


seizures, muscle weakness

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 211110238-21-83488
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 24523
3insulinPhase 4, Phase 24524
4Hypoglycemic AgentsPhase 4, Phase 25733
5glucagonPhase 4462
6Glucagon-Like Peptide 1Phase 4694

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 Mellitus26 24 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features26
3 Developmental Delay, Epilepsy, and Neonatal Diabetes26

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

35
Pancreas, Heart

Animal Models for Diabetes Mellitus, Permanent Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4ABCC8, INS, KCNJ11, PDX1
2MP:00053798.3ABCC8, GCK, INS, KCNJ11, PDX1
3MP:00053768.2ABCC8, 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:

69 (show all 60)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778rs80356637
2ABCC8p.Leu213ArgVAR_029779rs80356642
3ABCC8p.Ile1424ValVAR_029787rs80356653
4ABCC8p.Val86AlaVAR_031354rs193929360
5ABCC8p.Gly1400ArgVAR_031380rs137852676
6ABCC8p.Pro45LeuVAR_072928rs267606623
7ABCC8p.Asn72SerVAR_072929rs80356634
8ABCC8p.Val86GlyVAR_072930rs193929360
9ABCC8p.Phe132ValVAR_072931rs80356637
10ABCC8p.Pro207SerVAR_072932
11ABCC8p.Glu208LysVAR_072933
12ABCC8p.Asp209GluVAR_072934rs80356640
13ABCC8p.Gln211LysVAR_072935rs193929366
14ABCC8p.Leu225ProVAR_072936rs1048095
15ABCC8p.Thr229IleVAR_072937rs768017509
16ABCC8p.Tyr263AspVAR_072938rs778892038
17ABCC8p.Glu382LysVAR_072939rs80356651
18ABCC8p.Ala1184GluVAR_072944rs137852675
19ABCC8p.Glu1326LysVAR_072945rs200563930
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 67)
id Gene Variation Type Significance SNP ID Assembly Location
1INSNM_000207.2(INS): c.287G> A (p.Cys96Tyr)SNVPathogenicrs80356671GRCh37Chr 11, 2181128: 2181128
2INSNM_000207.2(INS): c.71C> A (p.Ala24Asp)SNVPathogenicrs80356663GRCh37Chr 11, 2182131: 2182131
3INSNM_000207.2(INS): c.143T> G (p.Phe48Cys)SNVPathogenicrs80356668GRCh37Chr 11, 2182059: 2182059
4GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)SNVPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
5GCKNM_000162.3(GCK): c.629T> A (p.Met210Lys)SNVPathogenicrs80356654GRCh37Chr 7, 44189409: 44189409
6GCKNM_000162.3(GCK): c.1019+2T> GSNVPathogenicrs193929376GRCh37Chr 7, 44186060: 44186060
7GCKNM_000162.3(GCK): c.1133C> T (p.Ala378Val)SNVPathogenicrs193929374GRCh37Chr 7, 44185216: 44185216
8GCKNM_000162.3(GCK): c.1190G> T (p.Arg397Leu)SNVPathogenicrs193929375GRCh38Chr 7, 44145560: 44145560
9GCKNM_000162.3(GCK): c.790G> A (p.Gly264Ser)SNVPathogenicrs193929373GRCh37Chr 7, 44187322: 44187322
10INSNM_000207.2(INS): c.127T> G (p.Cys43Gly)SNVPathogenicrs80356666GRCh37Chr 11, 2182075: 2182075
11INSNM_000207.2(INS): c.140G> T (p.Gly47Val)SNVPathogenicrs80356667GRCh37Chr 11, 2182062: 2182062
12INSNM_000207.2(INS): c.265C> T (p.Arg89Cys)SNVPathogenicrs80356669GRCh37Chr 11, 2181150: 2181150
13INSNM_000207.2(INS): c.268G> T (p.Gly90Cys)SNVPathogenicrs80356670GRCh37Chr 11, 2181147: 2181147
14INSNM_000207.2(INS): c.188-31G> ASNVPathogenicrs797045623GRCh38Chr 11, 2160028: 2160028
15INSNM_000207.2(INS): c.323A> G (p.Tyr108Cys)SNVPathogenicrs80356672GRCh37Chr 11, 2181092: 2181092
16INS;INS-IGF2NM_000207.2(INS): c.94G> A (p.Gly32Ser)SNVPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
17INSNM_000207.2(INS): c.94G> C (p.Gly32Arg)SNVPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
18PDX1NM_000209.3(PDX1): c.188delC (p.Pro63Argfs)deletionPathogenicrs193929377GRCh37Chr 13, 28494463: 28494463
19ABCC8NM_000352.4(ABCC8): c.257T> C (p.Val86Ala)SNVPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466
20ABCC8NM_000352.4(ABCC8): c.394T> G (p.Phe132Val)SNVPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
21ABCC8NM_000352.4(ABCC8): c.404T> C (p.Leu135Pro)SNVPathogenicrs193929364GRCh37Chr 11, 17491656: 17491656
22ABCC8NM_000352.4(ABCC8): c.627C> A (p.Asp209Glu)SNVPathogenicrs80356640GRCh37Chr 11, 17483325: 17483325
23ABCC8NM_000352.4(ABCC8): c.631C> A (p.Gln211Lys)SNVPathogenicrs193929366GRCh37Chr 11, 17483321: 17483321
24ABCC8NM_000352.4(ABCC8): c.674T> C (p.Leu225Pro)SNVPathogenicrs1048095GRCh37Chr 11, 17483278: 17483278
25KCNJ11NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp)SNVPathogenicrs193929358GRCh37Chr 11, 17408638: 17408638
26KCNJ11NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu)SNVPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
27KCNJ11NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val)SNVPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
28KCNJ11NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg)SNVPathogenicrs193929337GRCh37Chr 11, 17409484: 17409484
29KCNJ11NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr)SNVPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
30KCNJ11NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val)SNVPathogenicrs193929348GRCh37Chr 11, 17409095: 17409095
31KCNJ11NM_000525.3(KCNJ11): c.602G> T (p.Arg201Leu)SNVPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
32KCNJ11NM_000525.3(KCNJ11): c.755T> C (p.Val252Ala)SNVPathogenicrs193929352GRCh37Chr 11, 17408884: 17408884
33KCNJ11NM_000525.3(KCNJ11): c.886A> C (p.Ile296Leu)SNVPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
34KCNJ11NM_000525.3(KCNJ11): c.886A> G (p.Ile296Val)SNVPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
35KCNJ11NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys)SNVPathogenicrs193929355GRCh37Chr 11, 17408675: 17408675
36KCNJ11NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys)SNVPathogenicrs193929356GRCh37Chr 11, 17408650: 17408650
37KCNJ11NM_000525.3(KCNJ11): c.997T> A (p.Phe333Ile)SNVPathogenicrs193929357GRCh37Chr 11, 17408642: 17408642
38INSNM_000207.2(INS): c.187+241G> ASNVPathogenicrs886041083GRCh37Chr 11, 2181774: 2181774
39PDX1NM_000209.3(PDX1): c.533A> G (p.Glu178Gly)SNVPathogenicrs387906777GRCh37Chr 13, 28498519: 28498519
40INSNM_000207.2(INS): c.*59A> GSNVPathogenicrs397515519GRCh37Chr 11, 2181023: 2181023
41INSNM_000207.2(INS): c.-218A> CSNVPathogenicrs397515520GRCh37Chr 11, 2182598: 2182598
42INSNM_000207.2: c.-331C> ASNVPathogenicChr na, -1: -1
43INSNM_000207.2: c.-331C> GSNVPathogenicChr na, -1: -1
44INSNM_000207.2(INS): c.-366_343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
45INSNM_000207.2: c.-370-?186+?deldeletionPathogenicChr na, -1: -1
46INSNM_000207.2(INS): c.3G> A (p.Met1Ile)SNVPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
47INSNM_000207.2(INS): c.3G> T (p.Met1Ile)SNVPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
48KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)SNVPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
49KCNJ11NM_000525.3(KCNJ11): c.175G> A (p.Val59Met)SNVPathogenicrs80356616GRCh37Chr 11, 17409464: 17409464
50KCNJ11NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys)SNVPathogenicrs80356625GRCh37Chr 11, 17409038: 17409038
51KCNJ11NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly)SNVPathogenicrs80356617GRCh37Chr 11, 17409463: 17409463
52KCNJ11NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro)SNVPathogenicrs80356611GRCh37Chr 11, 17409490: 17409490
53KCNJ11NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg)SNVPathogenicrs80356621GRCh37Chr 11, 17409130: 17409130
54KCNJ11NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn)SNVPathogenicrs80356622GRCh37Chr 11, 17409129: 17409129
55KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)SNVPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
56KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)SNVPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
57KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)SNVPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
58KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)SNVPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
59ABCC8ABCC8, GLY1401ARGundetermined variantPathogenicChr na, -1: -1
60ABCC8NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu)SNVPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
61ABCC8NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg)SNVPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
62ABCC8NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val)SNVPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
63ABCC8NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser)SNVPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
64ABCC8NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys)SNVPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
65ABCC8NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr)SNVPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
66ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)SNVPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
67ABCC8NM_000352.4(ABCC8): c.257T> G (p.Val86Gly)SNVPathogenicrs193929360GRCh37Chr 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 11)
idSuper pathwaysScoreTop Affiliating Genes
19.4INS, PDX1
29.4ABCC8, KCNJ11
3
Show member pathways
9.4ABCC8, KCNJ11
49.4ABCC8, KCNJ11
5
Show member pathways
9.4ABCC8, KCNJ11
6
Show member pathways
8.9ABCC8, INS, KCNJ11
7
Show member pathways
8.6GCK, INS, PDX1
8
Show member pathways
8.6GCK, INS, PDX1
9
Show member pathways
7.5ABCC8, GCK, INS, KCNJ11, PDX1
10
Show member pathways
7.5ABCC8, GCK, INS, KCNJ11, PDX1
117.5ABCC8, GCK, INS, KCNJ11, PDX1

GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.4ABCC8, KCNJ11
2sarcolemmaGO:00423839.1ABCC8, KCNJ11

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:00068139.8ABCC8, KCNJ11
2potassium ion transmembrane transportGO:00718059.8ABCC8, KCNJ11
3detection of glucoseGO:00515949.8GCK, PDX1
4positive regulation of glycolytic processGO:00458219.7GCK, INS
5glucose transportGO:00157589.6GCK, INS
6positive regulation of glycogen biosynthetic processGO:00457259.6GCK, INS
7negative regulation of gluconeogenesisGO:00457219.6GCK, INS
8positive regulation of insulin secretionGO:00320249.3GCK, PDX1
9negative regulation of insulin secretionGO:00466769.1ABCC8, KCNJ11
10regulation of insulin secretionGO:00507969.0ABCC8, GCK, KCNJ11
11response to drugGO:00424938.9ABCC8, KCNJ11, PDX1
12glucose homeostasisGO:00425938.8GCK, INS, PDX1
13glucose metabolic processGO:00060068.2GCK, INS, KCNJ11, PDX1

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:00152729.9ABCC8, KCNJ11
2ion channel bindingGO:00443259.4ABCC8, KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet