MCID: DBT042
MIFTS: 32

Diabetes, Permanent Neonatal malady

Genetic diseases (common) category

Summaries for Diabetes, Permanent Neonatal

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Diabetes, Permanent Neonatal is related to permanent neonatal diabetes mellitus and diabetic ketoacidosis. An important gene associated with Diabetes, Permanent Neonatal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Potassium transporters inward current and Dopamine-DARPP32 Feedback onto cAMP Pathway. The compounds levosimendan and p1075 have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and no phenotypic analysis.

Description from OMIM:48 606176

Aliases & Classifications for Diabetes, Permanent Neonatal

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

diabetes, permanent neonatal 48


Related Diseases for Diabetes, Permanent Neonatal

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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



Diseases related to diabetes, permanent neonatal

Symptoms for Diabetes, Permanent Neonatal

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

606176

Drugs & Therapeutics for Diabetes, Permanent Neonatal

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Diabetes, Permanent Neonatal

Drug clinical trials:

Search ClinicalTrials for Diabetes, Permanent Neonatal

Search NIH Clinical Center for Diabetes, Permanent Neonatal

Search CenterWatch for Diabetes, Permanent Neonatal

Genetic Tests for Diabetes, Permanent Neonatal

About this section

Anatomical Context for Diabetes, Permanent Neonatal

About this section

Animal Models for Diabetes, Permanent Neonatal or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Diabetes, Permanent Neonatal:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5INS, KCNJ11, ABCC8
2MP:00030128.2INS, KCNJ11, ABCC8

Publications for Diabetes, Permanent Neonatal

About this section
Sources:
53PubMed
See all sources

Articles related to Diabetes, Permanent Neonatal:

idTitleAuthorsYear
1
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. (17919176)
2007

Variations for Diabetes, Permanent Neonatal

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (show all 41)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Leu213ArgVAR_029779
3ABCC8p.Ile1424ValVAR_029787
4ABCC8p.Val86AlaVAR_031354
5INSp.Ala24AspVAR_063723rs80356663
6INSp.His29AspVAR_063724rs121908272
7INSp.Gly32ArgVAR_063725rs80356664
8INSp.Gly32SerVAR_063726rs80356664
9INSp.Leu35ProVAR_063727rs121908273
10INSp.Cys43GlyVAR_063728rs80356666
11INSp.Gly47ValVAR_063730rs80356667
12INSp.Phe48CysVAR_063731rs80356668
13INSp.Arg89CysVAR_063735rs80356669
14INSp.Gly90CysVAR_063736rs80356670
15INSp.Cys96SerVAR_063737rs80356671
16INSp.Cys96TyrVAR_063738rs80356671
17INSp.Ser101CysVAR_063739rs121908276
18INSp.Tyr103CysVAR_063740rs121908277
19INSp.Tyr108CysVAR_063741rs80356672
20KCNJ11p.Phe35LeuVAR_026498
21KCNJ11p.Phe35ValVAR_026499
22KCNJ11p.Arg50ProVAR_026500
23KCNJ11p.Gln52ArgVAR_026501
24KCNJ11p.Val59GlyVAR_026504
25KCNJ11p.Val59MetVAR_026505
26KCNJ11p.Lys170AsnVAR_026508
27KCNJ11p.Lys170ArgVAR_026509
28KCNJ11p.Arg201CysVAR_026511
29KCNJ11p.Arg201HisVAR_026512
30KCNJ11p.Ile296LeuVAR_026514
31KCNJ11p.Glu322LysVAR_026515
32KCNJ11p.Tyr330CysVAR_026516
33KCNJ11p.Phe333IleVAR_026517
34KCNJ11p.His46TyrVAR_031332
35KCNJ11p.Arg50GlnVAR_031333
36KCNJ11p.Gly53AspVAR_031334
37KCNJ11p.Leu164ProVAR_031341
38KCNJ11p.Cys166TyrVAR_031342
39KCNJ11p.Lys170ThrVAR_031343
40KCNJ11p.Arg201LeuVAR_031344
41KCNJ11p.Tyr330SerVAR_031348

Clinvar genetic disease variations for Diabetes, Permanent Neonatal:

1 (show all 64)
id Gene Name 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 variantLikely pathogenic, Pathogenicrs80356666GRCh37Chr 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.323A> G (p.Tyr108Cys)single nucleotide variantPathogenicrs80356672GRCh37Chr 11, 2181092: 2181092
15NM_000207.2(INS): c.94G> A (p.Gly32Ser)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
16NM_000207.2(INS): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs80356664GRCh37Chr 11, 2182108: 2182108
17PDX1NM_000209.3(PDX1): c.188delC (p.Pro63Argfs)deletionPathogenicrs193929377GRCh37Chr 13, 28494463: 28494463
18ABCC8NM_001287174.1(ABCC8): c.257T> C (p.Val86Ala)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466
19ABCC8NM_001287174.1(ABCC8): c.394T> G (p.Phe132Val)single nucleotide variantLikely pathogenic, Pathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
20ABCC8NM_001287174.1(ABCC8): c.404T> C (p.Leu135Pro)single nucleotide variantPathogenicrs193929364GRCh37Chr 11, 17491656: 17491656
21ABCC8NM_001287174.1(ABCC8): c.627C> A (p.Asp209Glu)single nucleotide variantPathogenicrs80356640GRCh37Chr 11, 17483325: 17483325
22ABCC8NM_001287174.1(ABCC8): c.631C> A (p.Gln211Lys)single nucleotide variantPathogenicrs193929366GRCh37Chr 11, 17483321: 17483321
23ABCC8NM_001287174.1(ABCC8): c.674T> C (p.Leu225Pro)single nucleotide variantPathogenicrs1048095GRCh37Chr 11, 17483278: 17483278
24KCNJ11NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp)single nucleotide variantPathogenicrs193929358GRCh37Chr 11, 17408638: 17408638
25KCNJ11NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
26KCNJ11NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val)single nucleotide variantPathogenicrs193929333GRCh37Chr 11, 17409536: 17409536
27KCNJ11NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg)single nucleotide variantPathogenicrs193929337GRCh37Chr 11, 17409484: 17409484
28KCNJ11NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
29KCNJ11NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val)single nucleotide variantPathogenicrs193929348GRCh37Chr 11, 17409095: 17409095
30KCNJ11NM_000525.3(KCNJ11): c.602G> T (p.Arg201Leu)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
31KCNJ11NM_000525.3(KCNJ11): c.755T> C (p.Val252Ala)single nucleotide variantPathogenicrs193929352GRCh37Chr 11, 17408884: 17408884
32KCNJ11NM_000525.3(KCNJ11): c.886A> C (p.Ile296Leu)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
33KCNJ11NM_000525.3(KCNJ11): c.886A> G (p.Ile296Val)single nucleotide variantPathogenicrs193929353GRCh37Chr 11, 17408753: 17408753
34KCNJ11NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys)single nucleotide variantPathogenicrs193929355GRCh37Chr 11, 17408675: 17408675
35KCNJ11NM_000525.3(KCNJ11): c.989A> G (p.Tyr330Cys)single nucleotide variantPathogenicrs193929356GRCh37Chr 11, 17408650: 17408650
36KCNJ11NM_000525.3(KCNJ11): c.997T> A (p.Phe333Ile)single nucleotide variantPathogenicrs193929357GRCh37Chr 11, 17408642: 17408642
37NM_000207.2(INS): c.*59A> Gsingle nucleotide variantPathogenicrs397515519GRCh37Chr 11, 2181023: 2181023
38INSNM_000207.2(INS): c.-218A> Csingle nucleotide variantPathogenicrs397515520GRCh37Chr 11, 2182598: 2182598
39INSNM_000207.2: c.-331C> Asingle nucleotide variantPathogenic
40INSNM_000207.2: c.-331C> Gsingle nucleotide variantPathogenic
41INSNM_000207.2(INS): c.-366_343deldeletionPathogenicGRCh37Chr 11, 2181072: 2182746
42INSNM_000207.2: c.-370-?186+?deldeletionPathogenic
43NM_000207.2(INS): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
44NM_000207.2(INS): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs397515521GRCh37Chr 11, 2182199: 2182199
45KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
46KCNJ11NM_000525.3(KCNJ11): c.175G> A (p.Val59Met)single nucleotide variantPathogenicrs80356616GRCh37Chr 11, 17409464: 17409464
47KCNJ11NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs80356625GRCh37Chr 11, 17409038: 17409038
48KCNJ11NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly)single nucleotide variantPathogenicrs80356617GRCh37Chr 11, 17409463: 17409463
49KCNJ11NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro)single nucleotide variantPathogenicrs80356611GRCh37Chr 11, 17409490: 17409490
50KCNJ11NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg)single nucleotide variantPathogenicrs80356621GRCh37Chr 11, 17409130: 17409130
51KCNJ11NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn)single nucleotide variantPathogenicrs80356622GRCh37Chr 11, 17409129: 17409129
52KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
53KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
54KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
55KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
56ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
57ABCC8NM_001287174.1(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
58ABCC8NM_001287174.1(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
59ABCC8NM_001287174.1(ABCC8): c.4273A> G (p.Ile1425Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
60ABCC8NM_001287174.1(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
61ABCC8NM_001287174.1(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
62ABCC8NM_001287174.1(ABCC8): c.3557C> A (p.Ser1186Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
63ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
64ABCC8NM_001287174.1(ABCC8): c.257T> G (p.Val86Gly)single nucleotide variantPathogenicrs193929360GRCh37Chr 11, 17496466: 17496466

Expression for genes affiliated with Diabetes, Permanent Neonatal

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Diabetes, Permanent Neonatal

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

Pathways for genes affiliated with Diabetes, Permanent Neonatal

About this section
Sources:
51PathCards, 13EMD Millipore, 54QIAGEN, 61Thomson Reuters, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG
See all sources

Pathways related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KCNJ11, KCNJ5
29.4KCNJ11, KCNJ5
39.3KCNJ11, ABCC8
4
Show member pathways
8.8KCNJ11, KCNJ5, ABCC8
58.8KCNJ5, KCNJ11, ABCC8
6
Show member pathways
8.8KCNJ11, KCNJ5, ABCC8
7
Show member pathways
8.8ABCC8, KCNJ5, KCNJ11
88.5INS, KCNJ11, ABCC8
9
Show member pathways
8.5KCNJ11, ABCC8, INS
10
Show member pathways
8.5INS, ABCC8, KCNJ11
11
Show member pathways
8.5INS, KCNJ11, ABCC8

Compounds for genes affiliated with Diabetes, Permanent Neonatal

About this section
Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB
See all sources

Compounds related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1levosimendan46 1210.8KCNJ11, KCNJ5
2p1075629.8KCNJ5, KCNJ11
3levcromakalim629.7KCNJ5, KCNJ11
4tertiapin-q629.7KCNJ5, KCNJ11
5cibenzoline469.7KCNJ11, ABCC8
6benzopyran469.7KCNJ5, ABCC8
7dicyandiamide469.7KCNJ5, ABCC8
8pinacidil469.7ABCC8, KCNJ5
9phentolamine46 30 1211.6KCNJ5, ABCC8
10pip2469.5ABCC8, KCNJ11
11meglitinide469.4INS, ABCC8
12mitiglinide46 1210.4ABCC8, INS
13chlorpropamide46 52 1211.4INS, ABCC8
14c-peptide469.4INS, KCNJ11
15nicorandil46 3010.2KCNJ11, KCNJ5, ABCC8
16mgadp469.2ABCC8, KCNJ5, KCNJ11
17cromakalim46 3010.2ABCC8, KCNJ5, KCNJ11
18minoxidil46 30 1211.2KCNJ11, KCNJ5, ABCC8
19rapamycin469.1INS, KCNJ5
20potassium46 25 1211.1ABCC8, KCNJ5, KCNJ11
21lysine469.1KCNJ11, KCNJ5, ABCC8
22magnesium46 25 1211.1ABCC8, KCNJ5, KCNJ11
23phospholipid469.0KCNJ5, ABCC8
24norepinephrine46 25 1211.0INS, KCNJ5
25adp46 30 2511.0KCNJ11, KCNJ5, ABCC8
26atp46 309.9ABCC8, KCNJ5, KCNJ11
27glipizide46 52 1210.9INS, KCNJ5, ABCC8
28gliclazide46 52 1210.9ABCC8, KCNJ11, INS
29nateglinide46 52 1210.9ABCC8, KCNJ5, INS
30metformin46 52 1210.9ABCC8, KCNJ11, INS
31testosterone46 62 25 1211.7INS, KCNJ5, ABCC8
32arginine468.7INS, KCNJ11, ABCC8
33lipid468.6INS, KCNJ5, ABCC8
34tyrosine468.5ABCC8, KCNJ5, INS
35repaglinide52 46 1210.4INS, KCNJ11, KCNJ5, ABCC8
36glimepiride46 52 1210.4ABCC8, KCNJ5, KCNJ11, INS
37sulfonylurea468.4ABCC8, KCNJ5, KCNJ11, INS
38katp468.4INS, KCNJ11, KCNJ5, ABCC8
39diazoxide46 62 30 1211.4ABCC8, KCNJ5, KCNJ11, INS
40tolbutamide46 30 52 1211.4INS, KCNJ11, KCNJ5, ABCC8
41glibenclamide46 30 52 6211.4ABCC8, KCNJ5, KCNJ11, INS
42glutamate468.3ABCC8, KCNJ5, KCNJ11, INS
43glucose468.3ABCC8, KCNJ5, KCNJ11, INS

GO Terms for genes affiliated with Diabetes, Permanent Neonatal

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080768.8KCNJ11, KCNJ5, ABCC8

Biological processes related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:0068139.2KCNJ5, ABCC8
2potassium ion transmembrane transportGO:0718059.0KCNJ11, KCNJ5, ABCC8
3glucose metabolic processGO:0060068.8INS, KCNJ11
4synaptic transmissionGO:0072688.8ABCC8, KCNJ5, KCNJ11
5regulation of insulin secretionGO:0507968.6ABCC8, KCNJ11, INS
6energy reserve metabolic processGO:0061128.6INS, KCNJ11, ABCC8
7small molecule metabolic processGO:0442818.5INS, KCNJ11, ABCC8

Molecular functions related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3KCNJ11, ABCC8

Products for genes affiliated with Diabetes, Permanent Neonatal

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes, Permanent Neonatal

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet