MCID: DBT043
MIFTS: 34

Diabetes Mellitus, Permanent Neonatal, with Neurologic Features malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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MalaCards based summary: Diabetes Mellitus, Permanent Neonatal, with Neurologic Features is related to pancreatic agenesis and epilepsy syndrome. 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 Inwardly rectifying K+ channels. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and liver/biliary system.

Description from OMIM:46 606176

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

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Diabetes Mellitus, Permanent Neonatal, with Neurologic Features, Aliases & Descriptions:

Name: Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 46


Classifications:

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


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

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Graphical network of the top 20 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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Clinical features from OMIM:

606176

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6PDX1, INS, KCNJ11
2MP:00053708.5GCK, PDX1, INS
3MP:00053678.2GCK, PDX1, INS
4MP:00030128.2ABCC8, KCNJ11, INS, PDX1
5MP:00053788.0KCNJ11, INS, PDX1, GCK
6MP:00053797.7GCK, PDX1, INS, KCNJ11, ABCC8
7MP:00053767.6ABCC8, KCNJ11, INS, PDX1, GCK

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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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features:

63 (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:

7 (show all 65)
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.67A> G (p.Lys23Glu)single nucleotide variantdrug response, risk factorrs5219GRCh37Chr 11, 17409572: 17409572
54KCNJ11NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe)single nucleotide variantPathogenicrs80356618GRCh37Chr 11, 17409142: 17409142
55KCNJ11NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu)single nucleotide variantPathogenicrs80356620GRCh37Chr 11, 17409140: 17409140
56KCNJ11NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp)single nucleotide variantPathogenicrs80356615GRCh37Chr 11, 17409481: 17409481
57ABCC8ABCC8, GLY1401ARGundetermined variantPathogenic
58ABCC8NM_001287174.1(ABCC8): c.394T> C (p.Phe132Leu)single nucleotide variantPathogenicrs80356637GRCh37Chr 11, 17491666: 17491666
59ABCC8NM_001287174.1(ABCC8): c.638T> G (p.Leu213Arg)single nucleotide variantPathogenicrs80356642GRCh37Chr 11, 17483314: 17483314
60ABCC8NM_001287174.1(ABCC8): c.4273A> G (p.Ile1425Val)single nucleotide variantPathogenicrs80356653GRCh37Chr 11, 17417194: 17417194
61ABCC8NM_001287174.1(ABCC8): c.215A> G (p.Asn72Ser)single nucleotide variantPathogenicrs80356634GRCh37Chr 11, 17496508: 17496508
62ABCC8NM_001287174.1(ABCC8): c.1144G> A (p.Glu382Lys)single nucleotide variantPathogenicrs80356651GRCh37Chr 11, 17474698: 17474698
63ABCC8NM_001287174.1(ABCC8): c.3557C> A (p.Ser1186Tyr)single nucleotide variantPathogenicrs193929369GRCh37Chr 11, 17426062: 17426062
64ABCC8NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu)single nucleotide variantPathogenicrs267606623GRCh37Chr 11, 17498190: 17498190
65ABCC8NM_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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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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Pathways related to Diabetes Mellitus, Permanent Neonatal, with Neurologic Features according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KCNJ11, ABCC8
2
Show member pathways
9.5ABCC8, KCNJ11
39.5ABCC8, KCNJ11
4
Show member pathways
9.5ABCC8, KCNJ11
5
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
9.1GCK, INS
6
Show member pathways
9.1GCK, INS
79.0PDX1, INS
89.0PDX1, INS
9
Show member pathways
8.7INS, KCNJ11, ABCC8
10
Show member pathways
8.5GCK, PDX1, INS
11
Show member pathways
8.5GCK, PDX1, INS
12
Show member pathways
8.2ABCC8, KCNJ11, INS, GCK
13
Show member pathways
7.5ABCC8, KCNJ11, INS, PDX1, GCK
14
Show member pathways
7.5ABCC8, KCNJ11, INS, PDX1, GCK
157.5GCK, PDX1, INS, KCNJ11, ABCC8

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

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

(show all 48)
idCompoundScoreTop Affiliating Genes
1cibenzoline449.9KCNJ11, ABCC8
2nicorandil44 2910.9ABCC8, KCNJ11
3mgadp449.9KCNJ11, ABCC8
4cromakalim44 2910.9ABCC8, KCNJ11
5minoxidil44 29 1211.8KCNJ11, ABCC8
6pip2449.7ABCC8, KCNJ11
7proglucagon449.7GCK, PDX1
8meglitinide449.5ABCC8, INS
9chromium picolinate449.5INS, GCK
10mitiglinide44 1210.5INS, ABCC8
11glipizide44 50 1211.5INS, ABCC8
12chlorpropamide44 50 1211.5ABCC8, INS
13nateglinide44 50 1211.5ABCC8, INS
14aicar44 25 1211.4GCK, INS
152-deoxyglucose44 1210.4GCK, INS
16nicotinamide44 1210.3PDX1, INS
17potassium44 25 1211.3GCK, KCNJ11, ABCC8
18leucine449.3ABCC8, KCNJ11, GCK
19magnesium44 25 1211.2GCK, KCNJ11, ABCC8
20carbohydrates449.1INS, GCK
21adp44 29 2511.1ABCC8, KCNJ11, GCK
22repaglinide50 44 1211.1INS, KCNJ11, ABCC8
23gliclazide44 50 1211.1INS, KCNJ11, ABCC8
24glimepiride44 50 1211.1ABCC8, KCNJ11, INS
25Adenosine triphosphate25 1210.1GCK, KCNJ11, ABCC8
26glibenclamide44 29 50 6012.1INS, KCNJ11, ABCC8
27atp44 2910.0GCK, KCNJ11, ABCC8
28glycerol44 25 1211.0GCK, INS
29pyruvate449.0GCK, PDX1
30preproinsulin448.9INS, PDX1, GCK
31i-app448.9GCK, PDX1, INS
32glycogen44 259.9GCK, INS, ABCC8
33incretin448.9INS, PDX1, GCK
34fatty acid448.9ABCC8, INS, GCK
35streptozotocin448.9INS, PDX1, GCK
36cholesterol44 29 25 1211.8GCK, INS, ABCC8
37lipid448.6GCK, INS, ABCC8
38diazoxide44 60 29 1211.6GCK, INS, KCNJ11, ABCC8
39tolbutamide44 29 50 1211.6ABCC8, KCNJ11, INS, GCK
40metformin44 50 1210.6ABCC8, KCNJ11, INS, GCK
41calcium44 50 25 1211.5GCK, PDX1, KCNJ11, ABCC8
42arginine448.5ABCC8, KCNJ11, INS, GCK
43glutamate448.5ABCC8, KCNJ11, INS, GCK
44c-peptide448.5KCNJ11, INS, PDX1, GCK
45serine448.3GCK, PDX1, INS, ABCC8
46sulfonylurea448.0GCK, PDX1, INS, KCNJ11, ABCC8
47katp448.0ABCC8, KCNJ11, INS, PDX1, GCK
48glucose447.9GCK, PDX1, INS, KCNJ11, ABCC8

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

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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:0080769.5KCNJ11, ABCC8

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:0515949.6PDX1, GCK
2negative regulation of gluconeogenesisGO:0457219.3GCK, INS
3positive regulation of glycolytic processGO:0458219.2GCK, INS
4positive regulation of insulin secretionGO:0320249.2GCK, PDX1
5positive regulation of glycogen biosynthetic processGO:0457259.2GCK, INS
6potassium ion transmembrane transportGO:0718059.2KCNJ11, ABCC8
7glucose transportGO:0157589.1GCK, INS
8energy reserve metabolic processGO:0061128.9INS, KCNJ11, ABCC8
9endocrine pancreas developmentGO:0310188.8GCK, PDX1, INS
10glucose metabolic processGO:0060068.8KCNJ11, INS, PDX1
11glucose homeostasisGO:0425938.7GCK, PDX1, INS
12regulation of insulin secretionGO:0507968.4GCK, INS, KCNJ11, ABCC8
13small molecule metabolic processGO:0442818.2ABCC8, KCNJ11, INS, GCK

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.5KCNJ11, 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
14ExPASy
15FMA
23GTR
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25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet