MCID: DBT043
MIFTS: 29

Diabetes Mellitus, Permanent Neonatal, with Neurologic Features malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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47OMIM, 33MalaCards
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MalaCards: Diabetes Mellitus, Permanent Neonatal, with Neurologic Features is related to maturity-onset diabetes of the young and permanent neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Potassium Channels. The compounds c-peptide and meglitinide have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and no phenotypic analysis.

Description from OMIM:47 606176

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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47OMIM
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Classifications:

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


Aliases & Descriptions:

diabetes mellitus, permanent neonatal, with neurologic features 47


Related Diseases for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features:



Diseases related to diabetes mellitus, permanent neonatal, with neurologic features

Symptoms for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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47OMIM
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Clinical features from OMIM:

606176

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

Genetic Tests for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Anatomical Context for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Animal Models for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5INS, KCNJ11, ABCC8
2MP:00030128.2INS, KCNJ11, ABCC8

Publications for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Variations for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features:

64 (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 Mellitus, Permanent Neonatal, with Neurologic Features:

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 Mellitus, Permanent Neonatal, with Neurologic Features

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Pathways for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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50PathCards, 51PharmGKB, 55Reactome, 12EMD Millipore, 60Thomson Reuters, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0KCNJ11, ABCC8
2
Show member pathways
9.0ABCC8, KCNJ11
3
Show member pathways
9.0KCNJ11, ABCC8
49.0ABCC8, KCNJ11
5
Show member pathways
9.0ABCC8, KCNJ11
6
Show member pathways
8.5INS, KCNJ11, ABCC8
78.5INS, KCNJ11, ABCC8
8
Show member pathways
8.5ABCC8, KCNJ11, INS
9
Show member pathways
8.5ABCC8, KCNJ11, INS
10
Show member pathways
8.5KCNJ11, INS, ABCC8

Compounds for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1c-peptide459.5INS, KCNJ11
2meglitinide459.5INS, ABCC8
3mitiglinide45 1110.5ABCC8, INS
4glipizide45 51 1111.4ABCC8, INS
5chlorpropamide45 51 1111.4INS, ABCC8
6nateglinide45 51 1111.4INS, ABCC8
7cibenzoline459.4ABCC8, KCNJ11
8nicorandil45 2910.4ABCC8, KCNJ11
9mgadp459.3KCNJ11, ABCC8
10cromakalim45 2910.3ABCC8, KCNJ11
11minoxidil45 29 1111.3ABCC8, KCNJ11
12glycogen45 2410.2ABCC8, INS
13pip2459.2KCNJ11, ABCC8
14fatty acid459.1INS, ABCC8
15potassium45 24 1111.1KCNJ11, ABCC8
16leucine459.0ABCC8, KCNJ11
17lysine458.9ABCC8, KCNJ11
18repaglinide51 45 1110.9ABCC8, KCNJ11, INS
19gliclazide45 51 1110.9KCNJ11, ABCC8, INS
20glimepiride45 51 1110.9ABCC8, KCNJ11, INS
21sulfonylurea458.9INS, ABCC8, KCNJ11
22katp458.9INS, KCNJ11, ABCC8
23diazoxide45 61 29 1111.9INS, KCNJ11, ABCC8
24tolbutamide45 29 51 1111.9INS, KCNJ11, ABCC8
25glibenclamide45 29 51 6111.9INS, KCNJ11, ABCC8
26metformin45 51 1110.9INS, KCNJ11, ABCC8
27arginine458.7INS, ABCC8, KCNJ11
28aspartate458.7ABCC8, KCNJ11
29glutamate458.7KCNJ11, ABCC8, INS
30glucose458.7ABCC8, KCNJ11, INS

GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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16Gene Ontology
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Cellular components related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.0KCNJ11, ABCC8

Biological processes related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glucose metabolic processGO:0060069.2INS, KCNJ11
2potassium ion transmembrane transportGO:0718059.0ABCC8, KCNJ11
3synaptic transmissionGO:0072689.0ABCC8, KCNJ11
4regulation of insulin secretionGO:0507968.6ABCC8, KCNJ11, INS
5energy reserve metabolic processGO:0061128.6INS, KCNJ11, ABCC8
6small molecule metabolic processGO:0442818.2KCNJ11, ABCC8, INS

Molecular functions related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.0KCNJ11, ABCC8

Products for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Sources for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet