PNDM
MCID: DBT083
MIFTS: 55

Diabetes Mellitus, Permanent Neonatal (PNDM) 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 52 70 12 68
Permanent Neonatal Diabetes Mellitus 11 23 48 24 25 54 27 13
Pndm 11 48 25 54 70
Permanent Diabetes Mellitus of Infancy 11 48 24 70
Diabetes Mellitus Permanent Neonatal with Neurologic Features 70 27
Developmental Delay Epilepsy and Neonatal Diabetes 70 27
Pdmi 11 70
 
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 52
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 54
Developmental Delay, Epilepsy, and Neonatal Diabetes 68
Monogenic Diabetes of Infancy 54
Diabetes, Permanent Neonatal 52
Dend Syndrome 54
Dend 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 606176
Disease Ontology11 DOID:0060639
ICD10 via Orphanet31 P70.2
MeSH39 D003920

Summaries for Diabetes Mellitus, Permanent Neonatal

About this section
OMIM:52 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 seizures, seizures and muscle weakness. 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 Hepatic ABC Transporters and Type II diabetes mellitus. Affiliated tissues include pancreas and heart, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

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:48 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:70 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1abcc8-related permanent neonatal diabetes mellitus12.2
2gck-related permanent neonatal diabetes mellitus12.2
3ins-related permanent neonatal diabetes mellitus12.2
4kcnj11-related permanent neonatal diabetes mellitus12.2
5pdx1-related permanent neonatal diabetes mellitus12.2
6intermediate dend syndrome12.0
7pancreatic and cerebellar agenesis11.3
8diaphanospondylodysostosis10.3ABCC8, GCK
9noonan syndrome 310.3ABCC8, KCNJ11
10nosophobia10.2ABCC8, GCK, KCNJ11
11ritscher-schinzel syndrome 210.2ABCC8, KCNJ11
12autoimmune disease 110.2ABCC8, INS, KCNJ11
13deafness, autosomal recessive 6610.2ABCC8, INS, KCNJ11
14chondroma10.2ABCC8, INS, KCNJ11
15hemorrhagic fever10.2ABCC8, KCNJ11
16neonatal diabetes mellitus10.2
17antidepressant type abuse10.2GCK, INS, KCNJ11
18labyrinthine unilateral reactive loss10.1ABCC8, GCK, INS, KCNJ11
19alopecia-mental retardation syndrome 210.1ABCC8, INS
20maturity-onset diabetes of the young, type 1310.1ABCC8, GCK, INS, KCNJ11
21diabetic cataract10.1ABCC8, GCK, INS, KCNJ11
22neurogenic arthropathy10.1ABCC8, GCK, INS, KCNJ11
23exostosis10.1ABCC8, GCK, INS, KCNJ11
24peroneal neuropathy10.1ABCC8, GCK, INS, KCNJ11
25body dysmorphic disorder10.1ABCC8, GCK, INS, KCNJ11
26ischemic heart disease10.1ABCC8, GCK, INS, PDX1
27orbital granuloma10.1GCK, PDX1
28gastric duplication cysts10.0NEUROG3, PTF1A
29epilepsy10.0
30brain stem glioma10.0ABCC8, GCK, INS, KCNJ11, PDX1
31diabetes mellitus, insulin-dependent, 2010.0GCK, INS, KCNJ11, PDX1, SLC19A2
32maturity-onset diabetes of the young 610.0ABCC8, GCK, INS, KCNJ11, PDX1
33mosaic trisomy 139.9ABCC8, GCK, INS, KCNJ11, PDX1, SLC19A2
34non-syndromic intellectual disability9.8ABCC8, GATA6, GCK, INS, KCNJ11, PDX1
35distal muscular dystrophy9.7ABCC8, EIF2AK3, GCK, GLIS3, INS, KCNJ11
36congenital stationary night blindness9.7ABCC8, GCK, INS, KCNJ11, MNX1, NEUROG3
37focal segmental glomerulosclerosis 88.0ABCC8, CUTA, EIF2AK3, GATA6, GCK, GLIS3

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



Diseases related to diabetes mellitus, permanent neonatal

Symptoms & Phenotypes 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:

 54 64 (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperglycemia64 54 Obligate (100%) HP:0003074
2 elevated hemoglobin a1c64 54 Very frequent (99-80%) HP:0040217
3 seizures64 54 Frequent (79-30%) HP:0001250
4 muscle weakness64 54 Frequent (79-30%) HP:0001324
5 muscular hypotonia of the trunk64 54 Frequent (79-30%) HP:0008936
6 mild global developmental delay64 54 Frequent (79-30%) HP:0011342
7 long philtrum64 54 Occasional (29-5%) HP:0000343
8 anteverted nares64 54 Occasional (29-5%) HP:0000463
9 bilateral ptosis64 54 Occasional (29-5%) HP:0001488
10 dehydration64 54 Occasional (29-5%) HP:0001944
11 vomiting64 54 Occasional (29-5%) HP:0002013
12 hypsarrhythmia64 54 Occasional (29-5%) HP:0002521
13 downturned corners of mouth64 54 Occasional (29-5%) HP:0002714
14 short nose64 54 Occasional (29-5%) HP:0003196
15 prominent metopic ridge64 54 Occasional (29-5%) HP:0005487
16 peripheral neuropathy64 54 Occasional (29-5%) HP:0009830
17 thickened ears64 54 Occasional (29-5%) HP:0009894
18 clinodactyly of the 4th finger64 54 Occasional (29-5%) HP:0040025
19 autoimmune antibody positivity54 Excluded (0%)
20 neonatal insulin-dependent diabetes mellitus64 54 Very frequent (99-80%) HP:0000857
21 failure to thrive64 54 Very frequent (99-80%) HP:0001508
22 weight loss64 54 Very frequent (99-80%) HP:0001824
23 glycosuria64 54 Very frequent (99-80%) HP:0003076
24 reduced pancreatic beta cells64 54 Very frequent (99-80%) HP:0006274
25 hypovolemia64 54 Very frequent (99-80%) HP:0011106
26 retinopathy64 54 Frequent (79-30%) HP:0000488
27 intellectual disability54 Frequent (79-30%)
28 global developmental delay64 54 Frequent (79-30%) HP:0001263
29 motor delay64 54 Frequent (79-30%) HP:0001270
30 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
31 abnormal heart morphology64 54 Frequent (79-30%) HP:0001627
32 generalized tonic-clonic seizures64 54 Frequent (79-30%) HP:0002069
33 generalized myoclonic seizures64 54 Frequent (79-30%) HP:0002123
34 arthrogryposis multiplex congenita64 54 Frequent (79-30%) HP:0002804
35 ketonuria64 54 Frequent (79-30%) HP:0002919
36 contractures of the joints of the lower limbs64 54 Frequent (79-30%) HP:0005750
37 microalbuminuria64 54 Frequent (79-30%) HP:0012594
38 neurodevelopmental delay54 Frequent (79-30%)
39 renal tubular dysfunction64 54 Occasional (29-5%) HP:0000124
40 hearing impairment64 54 Occasional (29-5%) HP:0000365
41 ataxia64 54 Occasional (29-5%) HP:0001251
42 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
43 coma64 54 Occasional (29-5%) HP:0001259
44 apraxia64 54 Occasional (29-5%) HP:0002186
45 pancreatic hypoplasia64 54 Occasional (29-5%) HP:0002594
46 peripheral axonal neuropathy64 54 Occasional (29-5%) HP:0003477
47 intellectual disability, severe64 54 Occasional (29-5%) HP:0010864
48 abnormality of the upper urinary tract54 Occasional (29-5%)
49 ptosis64 HP:0000508
50 abnormality of the ear64 HP:0000598
51 diabetes mellitus64 HP:0000819
52 small for gestational age64 HP:0001518
53 ketoacidosis64 HP:0001993
54 abnormality of the immune system64 HP:0002715
55 limb joint contracture64 HP:0003121
56 beta-cell dysfunction64 HP:0006279
57 radial deviation of finger64 HP:0009466
58 clinodactyly64 HP:0030084

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:


seizures, muscle weakness

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3EIF2AK3, GATA6, GCK, INS, PDX1, PPT1
2MP:00053819.0EIF2AK3, INS, MNX1, NEUROG3, PDX1, PTF1A
3MP:00030128.9ABCC8, EIF2AK3, GLIS3, INS, KCNJ11, NEUROG3
4MP:00053678.6GCK, GLIS3, INS, NEUROG3, PDX1, PPT1
5MP:00053848.3EIF2AK3, GATA6, GLIS3, INS, MNX1, NEUROG3
6MP:00053798.0ABCC8, EIF2AK3, GCK, GLIS3, INS, KCNJ11
7MP:00053787.8EIF2AK3, GATA6, GCK, GLIS3, INS, KCNJ11
8MP:00107687.4EIF2AK3, GATA6, GCK, GLIS3, INS, KCNJ11
9MP:00053766.4ABCC8, EIF2AK3, GATA6, GCK, GLIS3, INS

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 211410238-21-83488
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 24645
3insulinPhase 4, Phase 24646
4Hypoglycemic AgentsPhase 4, Phase 25896
5glucagonPhase 4478
6Glucagon-Like Peptide 1Phase 4715

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
4Antenatal Development Evaluated ProspectivelyUnknown statusNCT02478554
5Sulfonylurea Response in Patients With Diabetes Due to Kir6.2 MutationsCompletedNCT00334711
6Genetic Modifiers of Cystic Fibrosis Related DiabetesRecruitingNCT01113216

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 Mellitus27 24 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features27
3 Developmental Delay, Epilepsy, and Neonatal Diabetes27

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

36
Pancreas, Heart

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:

70 (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 68)
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)SNVPathogenicrs193929375GRCh37Chr 7, 44185159: 44185159
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)SNVPathogenicrs193929333GRCh38Chr 11, 17387989: 17387989
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> ASNVPathogenic
43INSNM_ 000207.2: c.-331C> GSNVPathogenic
44INSNM_ 000207.2(INS): c.-366_ 343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
45INSNM_ 000207.2: c.-370-?186+?deldeletionPathogenic
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
56ABCC8; KCNJ11NM_ 000525.3(KCNJ11): c.67A> G (p.Lys23Glu)SNVdrug response, risk factorrs5219GRCh37Chr 11, 17409572: 17409572
57KCNJ11NM_ 000525.3(KCNJ11): c.497G> T (p.Cys166Phe)SNVPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
58KCNJ11NM_ 000525.3(KCNJ11): c.499A> C (p.Ile167Leu)SNVPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
59KCNJ11NM_ 000525.3(KCNJ11): c.158G> A (p.Gly53Asp)SNVPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
60ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
61ABCC8NM_ 000352.4(ABCC8): c.394T> C (p.Phe132Leu)SNVPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
62ABCC8NM_ 000352.4(ABCC8): c.638T> G (p.Leu213Arg)SNVPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
63ABCC8NM_ 000352.4(ABCC8): c.4270A> G (p.Ile1424Val)SNVPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
64ABCC8NM_ 000352.4(ABCC8): c.215A> G (p.Asn72Ser)SNVPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
65ABCC8NM_ 000352.4(ABCC8): c.1144G> A (p.Glu382Lys)SNVPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
66ABCC8NM_ 000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr)SNVPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
67ABCC8NM_ 001287174.1(ABCC8): c.134C> T (p.Pro45Leu)SNVPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
68ABCC8NM_ 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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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
1ATP-sensitive potassium channel complexGO:000828210.0ABCC8, KCNJ11

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:004667610.7ABCC8, KCNJ11
2cellular glucose homeostasisGO:000167810.7ABCC8, GCK
3negative regulation of gluconeogenesisGO:004572110.7GCK, INS
4positive regulation of glycogen biosynthetic processGO:004572510.7GCK, INS
5detection of glucoseGO:005159410.7GCK, PDX1
6positive regulation of protein localization to nucleusGO:190018210.7EIF2AK3, INS
7exocrine pancreas developmentGO:003101710.7PDX1, PTF1A
8glucose homeostasisGO:004259310.5GCK, INS, PDX1
9hindbrain developmentGO:003090210.4NEUROG3, PTF1A
10pancreas developmentGO:003101610.3GATA6, PDX1, PTF1A
11glucose metabolic processGO:000600610.2GCK, INS, KCNJ11, PDX1
12response to drugGO:004249310.1ABCC8, GATA6, KCNJ11, PDX1
13regulation of insulin secretionGO:005079610.0ABCC8, GCK, KCNJ11, SYT9
14transdifferentiationGO:00602909.9NEUROG3, PDX1
15type B pancreatic cell differentiationGO:00033099.8GATA6, PDX1
16endocrine pancreas developmentGO:00310189.7EIF2AK3, MNX1, NEUROG3, PDX1
17transcription from RNA polymerase II promoterGO:00063669.0GATA6, GLIS3, NEUROG3, PDX1, PTF1A

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:001527210.0ABCC8, KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet