MCID: DBT083
MIFTS: 51

Diabetes Mellitus, Permanent Neonatal malady

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal

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Aliases & Descriptions for Diabetes Mellitus, Permanent Neonatal:

Name: Diabetes Mellitus, Permanent Neonatal 50 68 12 66
Permanent Neonatal Diabetes Mellitus 22 46 23 24 52 25
Pndm 46 24 52 68
Permanent Diabetes Mellitus of Infancy 46 23 68
Diabetes Mellitus Permanent Neonatal with Neurologic Features 68 25
Developmental Delay Epilepsy and Neonatal Diabetes 68 25
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 50
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 52
Monogenic Diabetes of Infancy 52
Diabetes, Permanent Neonatal 50
Dend Syndrome 52
Dend 68
Pdmi 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
diabetes mellitus, permanent neonatal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 606176
ICD10 via Orphanet29 P70.2
MeSH37 D003920

Summaries for Diabetes Mellitus, Permanent Neonatal

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OMIM:50 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 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 ABC-family proteins mediated transport and Inwardly rectifying K+ channels. Affiliated tissues include pancreas, and related mouse phenotypes are no phenotypic analysis and homeostasis/metabolism.

Genetics Home Reference:24 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:46 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:68 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 39)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus29.0GCK, INS, KCNJ11
2abcc8-related permanent neonatal diabetes mellitus12.3
3gck-related permanent neonatal diabetes mellitus12.3
4ins-related permanent neonatal diabetes mellitus12.3
5kcnj11-related permanent neonatal diabetes mellitus12.3
6pdx1-related permanent neonatal diabetes mellitus12.3
7intermediate dend syndrome12.1
8pancreatic and cerebellar agenesis11.5
9epilepsy10.2
10maturity-onset diabetes of the young, type 1310.0ABCC8, KCNJ11
11usher syndrome, type 1c10.0ABCC8, KCNJ11
12hemimegalencephaly9.9ABCC8, KCNJ11
13alstrom syndrome9.8INS, KCNJ11
14diabetic ketoacidosis9.8
15retinitis pigmentosa 689.6ABCC8, INS
16diabetes mellitus, transient neonatal, 39.5ABCC8, INS, KCNJ11
17acute insulin response9.5ABCC8, INS, KCNJ11
18nephronophthisis 199.5ABCC8, INS, KCNJ11
19laryngeal carcinoma9.5ABCC8, INS, KCNJ11
20writing disorder9.4ABCC8, GCK, KCNJ11
21perlman syndrome9.3ABCC8, GCK, KCNJ11
2218p deletion syndrome9.1ABCC8, GCK, KCNJ11
23labyrinthine bilateral reactive loss9.1GCK, INS
24intraocular lymphoma9.1ABCC8, GCK, INS
25toxic megacolon8.8ABCC8, GCK, INS, KCNJ11
26patellofemoral pain syndrome8.8ABCC8, GCK, INS, KCNJ11
27anatomical narrow angle borderline glaucoma8.8ABCC8, GCK, INS, KCNJ11
28gestational choriocarcinoma8.8ABCC8, GCK, INS, KCNJ11
29short bowel syndrome8.8ABCC8, GCK, INS, KCNJ11
30femoral neuropathy8.8ABCC8, GCK, INS, KCNJ11
31survival motor neuron spinal muscular atrophy8.8ABCC8, GCK, INS, KCNJ11
32hypertrichosis8.8ABCC8, GCK, INS, KCNJ11
33proximal chromosome 18q deletion syndrome8.3ABCC8, GCK, INS, KCNJ11, PDX1
34diaphanospondylodysostosis8.3ABCC8, GCK, INS, KCNJ11, PDX1
35inclusion body myopathy with paget disease of bone and frontotemporal dementia8.3ABCC8, GCK, INS, KCNJ11, PDX1
36hyperlipoproteinemia type iv8.3ABCC8, GCK, INS, KCNJ11, PDX1
37adult spinal muscular atrophy8.3ABCC8, GCK, INS, KCNJ11, PDX1
38diabetes mellitus, noninsulin-dependent8.3ABCC8, GCK, INS, KCNJ11, PDX1
39hepatic adenoma, somatic8.3ABCC8, 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

Symptoms:

 52 (show all 34)
  • renal tubular dysfunction
  • hearing impairment
  • retinopathy
  • neonatal insulin-dependent diabetes mellitus
  • intellectual disability
  • ataxia
  • muscular hypotonia
  • coma
  • motor delay
  • global developmental delay
  • generalized tonic-clonic seizures
  • bilateral ptosis
  • failure to thrive
  • intrauterine growth retardation
  • abnormality of cardiac morphology
  • weight loss
  • dehydration
  • apraxia
  • pancreatic hypoplasia
  • downturned corners of mouth
  • arthrogryposis multiplex congenita
  • ketonuria
  • hyperglycemia
  • glycosuria
  • peripheral axonal neuropathy
  • prominent metopic ridge
  • contractures of the joints of the lower limbs
  • reduced pancreatic beta cells
  • generalized myoclonic seizures
  • intellectual disability, severe
  • abnormality of the upper urinary tract
  • hypovolemia
  • microalbuminuria
  • neurodevelopmental delay

HPO human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 4, Phase 24401
2
GlyburidePhase 4, Phase 211010238-21-83488
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
3glucagonPhase 4441

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 Mellitus25 23 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features25
3 Developmental Delay, Epilepsy, and Neonatal Diabetes25

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

34
Pancreas

Animal Models for Diabetes Mellitus, Permanent Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4ABCC8, INS, KCNJ11, PDX1
2MP:00053767.5ABCC8, GCK, INS, KCNJ11, PDX1
3MP:00053797.2ABCC8, 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:

68 (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_072944
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 66)
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
38PDX1NM_000209.3(PDX1): c.533A> G (p.Glu178Gly)single nucleotide variantPathogenicrs387906777GRCh37Chr 13, 28498519: 28498519
39NM_000207.2(INS): c.*59A> Gsingle nucleotide variantPathogenicrs397515519GRCh37Chr 11, 2181023: 2181023
40INSNM_000207.2(INS): c.-218A> Csingle nucleotide variantPathogenicrs397515520GRCh37Chr 11, 2182598: 2182598
41INSNM_000207.2: c.-331C> Asingle nucleotide variantPathogenic
42INSNM_000207.2: c.-331C> Gsingle nucleotide variantPathogenic
43NM_000207.2(INS): c.-366_343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
44INSNM_000207.2: c.-370-?186+?deldeletionPathogenic
45NM_000207.2(INS): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
46NM_000207.2(INS): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
47KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
48KCNJ11NM_000525.3(KCNJ11): c.175G> A (p.Val59Met)single nucleotide variantPathogenicrs80356616GRCh37Chr 11, 17409464: 17409464
49KCNJ11NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs80356625GRCh37Chr 11, 17409038: 17409038
50KCNJ11NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly)single nucleotide variantPathogenicrs80356617GRCh37Chr 11, 17409463: 17409463
51KCNJ11NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro)single nucleotide variantPathogenicrs80356611GRCh37Chr 11, 17409490: 17409490
52KCNJ11NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg)single nucleotide variantPathogenicrs80356621GRCh37Chr 11, 17409130: 17409130
53KCNJ11NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn)single nucleotide variantPathogenicrs80356622GRCh37Chr 11, 17409129: 17409129
54KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
55KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
56KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
57KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
58ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
59ABCC8NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
60ABCC8NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
61ABCC8NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
62ABCC8NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
63ABCC8NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
64ABCC8NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
65ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
66ABCC8NM_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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Cellular components related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.5ABCC8, KCNJ11
2sarcolemmaGO:00423839.4ABCC8, 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:000681310.0ABCC8, KCNJ11
2potassium ion transmembrane transportGO:00718059.9ABCC8, KCNJ11
3detection of glucoseGO:00515949.8GCK, PDX1
4positive regulation of glycolytic processGO:00458219.6GCK, INS
5glucose transportGO:00157589.6GCK, INS
6positive regulation of glycogen biosynthetic processGO:00457259.6GCK, INS
7negative regulation of gluconeogenesisGO:00457219.5GCK, INS
8negative regulation of insulin secretionGO:00466769.2ABCC8, KCNJ11
9positive regulation of insulin secretionGO:00320249.1GCK, PDX1
10regulation of insulin secretionGO:00507969.1ABCC8, GCK, KCNJ11
11response to drugGO:00424939.0ABCC8, KCNJ11, PDX1
12glucose homeostasisGO:00425938.7GCK, INS, PDX1
13glucose metabolic processGO:00060068.3GCK, 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:001527210.0ABCC8, KCNJ11
2ion channel bindingGO:00443259.5ABCC8, KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet