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

Aliases & Descriptions for Diabetes Mellitus, Permanent Neonatal:

Name: Diabetes Mellitus, Permanent Neonatal 54 66 13 69
Permanent Neonatal Diabetes Mellitus 12 23 50 24 25 56 29 14
Pndm 12 50 25 56 66
Permanent Diabetes Mellitus of Infancy 12 50 24 66
Diabetes Mellitus Permanent Neonatal with Neurologic Features 66 29
Developmental Delay Epilepsy and Neonatal Diabetes 66 29
Pdmi 12 66
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 54
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 56
Developmental Delay, Epilepsy, and Neonatal Diabetes 69
Monogenic Diabetes of Infancy 56
Diabetes, Permanent Neonatal 54
Dend Syndrome 56
Dend 66

Characteristics:

Orphanet epidemiological data:

56
dend 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;

GeneReviews:

23
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:

OMIM 54 606176
Disease Ontology 12 DOID:0060639
ICD10 via Orphanet 34 P70.2
MeSH 42 D003920

Summaries for Diabetes Mellitus, Permanent Neonatal

OMIM : 54 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 ataxia, seizures and vomiting. An important gene associated with Diabetes Mellitus, Permanent Neonatal is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Insulin secretion and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Glyburide and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include pancreas and heart, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Disease Ontology : 12 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 : 50 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 : 66 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: NBK1447

Related Diseases for Diabetes Mellitus, Permanent Neonatal

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)
id Related Disease Score Top Affiliating Genes
1 abcc8-related permanent neonatal diabetes mellitus 12.2
2 gck-related permanent neonatal diabetes mellitus 12.2
3 ins-related permanent neonatal diabetes mellitus 12.2
4 kcnj11-related permanent neonatal diabetes mellitus 12.2
5 pdx1-related permanent neonatal diabetes mellitus 12.2
6 intermediate dend syndrome 12.0
7 pancreatic and cerebellar agenesis 11.3
8 diaphanospondylodysostosis 10.3 ABCC8 GCK
9 noonan syndrome 3 10.3 ABCC8 KCNJ11
10 nosophobia 10.2 ABCC8 GCK KCNJ11
11 ritscher-schinzel syndrome 2 10.2 ABCC8 KCNJ11
12 autoimmune disease 1 10.2 ABCC8 INS KCNJ11
13 deafness, autosomal recessive 66 10.2 ABCC8 INS KCNJ11
14 chondroma 10.2 ABCC8 INS KCNJ11
15 hemorrhagic fever 10.2 ABCC8 KCNJ11
16 neonatal diabetes mellitus 10.2
17 antidepressant type abuse 10.2 GCK INS KCNJ11
18 labyrinthine unilateral reactive loss 10.1 ABCC8 GCK INS KCNJ11
19 alopecia-mental retardation syndrome 2 10.1 ABCC8 INS
20 maturity-onset diabetes of the young, type 13 10.1 ABCC8 GCK INS KCNJ11
21 diabetic cataract 10.1 ABCC8 GCK INS KCNJ11
22 neurogenic arthropathy 10.1 ABCC8 GCK INS KCNJ11
23 exostosis 10.1 ABCC8 GCK INS KCNJ11
24 peroneal neuropathy 10.1 ABCC8 GCK INS KCNJ11
25 body dysmorphic disorder 10.1 ABCC8 GCK INS KCNJ11
26 ischemic heart disease 10.1 ABCC8 GCK INS PDX1
27 orbital granuloma 10.1 GCK PDX1
28 gastric duplication cysts 10.0 NEUROG3 PTF1A
29 epilepsy 10.0
30 brain stem glioma 10.0 ABCC8 GCK INS KCNJ11 PDX1
31 diabetes mellitus, insulin-dependent, 20 10.0 GCK INS KCNJ11 PDX1 SLC19A2
32 maturity-onset diabetes of the young 6 10.0 ABCC8 GCK INS KCNJ11 PDX1
33 mosaic trisomy 13 9.9 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
34 non-syndromic intellectual disability 9.8 ABCC8 GATA6 GCK INS KCNJ11 PDX1
35 distal muscular dystrophy 9.7 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
36 congenital stationary night blindness 9.7 ABCC8 GCK INS KCNJ11 MNX1 NEUROG3
37 focal segmental glomerulosclerosis 8 8.0 ABCC8 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

Symptoms by clinical synopsis from OMIM:

606176

Clinical features from OMIM:

606176

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal:

56 32 (show top 50) (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 vomiting 56 32 Occasional (29-5%) HP:0002013
4 muscle weakness 56 32 Frequent (79-30%) HP:0001324
5 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
6 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
7 hearing impairment 56 32 Occasional (29-5%) HP:0000365
8 global developmental delay 56 32 Frequent (79-30%) HP:0001263
9 short nose 56 32 Occasional (29-5%) HP:0003196
10 anteverted nares 56 32 Occasional (29-5%) HP:0000463
11 renal tubular dysfunction 56 32 Occasional (29-5%) HP:0000124
12 retinopathy 56 32 Frequent (79-30%) HP:0000488
13 dehydration 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0001944
14 intellectual disability, severe 56 32 Occasional (29-5%) HP:0010864
15 long philtrum 56 32 Occasional (29-5%) HP:0000343
16 weight loss 56 32 Very frequent (99-80%) HP:0001824
17 generalized myoclonic seizures 56 32 Frequent (79-30%) HP:0002123
18 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
19 generalized tonic-clonic seizures 56 32 Frequent (79-30%) HP:0002069
20 arthrogryposis multiplex congenita 56 32 Frequent (79-30%) HP:0002804
21 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
22 apraxia 56 32 Occasional (29-5%) HP:0002186
23 downturned corners of mouth 56 32 Occasional (29-5%),Frequent (79-30%) HP:0002714
24 coma 56 32 Occasional (29-5%) HP:0001259
25 motor delay 56 32 Frequent (79-30%) HP:0001270
26 prominent metopic ridge 56 32 Occasional (29-5%),Frequent (79-30%) HP:0005487
27 mild global developmental delay 56 32 Frequent (79-30%) HP:0011342
28 hypovolemia 56 32 Very frequent (99-80%) HP:0011106
29 glycosuria 56 32 Very frequent (99-80%) HP:0003076
30 hypsarrhythmia 56 32 Occasional (29-5%) HP:0002521
31 abnormal heart morphology 56 32 Frequent (79-30%) HP:0001627
32 hyperglycemia 56 32 Obligate (100%),Very frequent (99-80%) HP:0003074
33 ketonuria 56 32 Frequent (79-30%) HP:0002919
34 pancreatic hypoplasia 56 32 Occasional (29-5%) HP:0002594
35 reduced pancreatic beta cells 56 32 Very frequent (99-80%) HP:0006274
36 neonatal insulin-dependent diabetes mellitus 56 32 Very frequent (99-80%) HP:0000857
37 peripheral axonal neuropathy 56 32 Occasional (29-5%) HP:0003477
38 muscular hypotonia of the trunk 56 32 Frequent (79-30%) HP:0008936
39 elevated hemoglobin a1c 56 32 Very frequent (99-80%) HP:0040217
40 bilateral ptosis 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001488
41 thickened ears 56 32 Occasional (29-5%) HP:0009894
42 clinodactyly of the 4th finger 56 32 Occasional (29-5%) HP:0040025
43 contractures of the joints of the lower limbs 56 32 Frequent (79-30%) HP:0005750
44 microalbuminuria 56 32 Frequent (79-30%) HP:0012594
45 clinodactyly 32 HP:0030084
46 ptosis 32 HP:0000508
47 diabetes mellitus 32 HP:0000819
48 intellectual disability 56 Frequent (79-30%)
49 neurodevelopmental delay 56 Frequent (79-30%)
50 abnormality of the upper urinary tract 56 Occasional (29-5%)

UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:


seizures, muscle weakness

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 GATA6 GCK GLIS3 INS KCNJ11 MNX1
2 endocrine/exocrine gland MP:0005379 10.14 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
3 cellular MP:0005384 10.11 EIF2AK3 GATA6 GLIS3 INS MNX1 NEUROG3
4 growth/size/body region MP:0005378 10.11 INS KCNJ11 MNX1 NEUROG3 PDX1 PPT1
5 digestive/alimentary MP:0005381 9.98 SLC19A2 EIF2AK3 INS MNX1 NEUROG3 PDX1
6 mortality/aging MP:0010768 9.93 GATA6 GCK GLIS3 INS KCNJ11 MNX1
7 liver/biliary system MP:0005370 9.8 EIF2AK3 GATA6 GCK INS PDX1 PPT1
8 no phenotypic analysis MP:0003012 9.56 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 NEUROG3
9 renal/urinary system MP:0005367 9.1 GCK GLIS3 INS NEUROG3 PDX1 PPT1

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal

Drugs for Diabetes Mellitus, Permanent Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4,Phase 2 10238-21-8 3488
2 Hypoglycemic Agents Phase 4,Phase 2
3 insulin Phase 4,Phase 2
4 Insulin, Globin Zinc Phase 4,Phase 2
5 glucagon Phase 4
6 Glucagon-Like Peptide 1 Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes Enrolling by invitation NCT02624817 Phase 4
2 Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR) Enrolling by invitation NCT02624830 Phase 4
3 Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes Mellitus Completed NCT00610038 Phase 2
4 Antenatal Development Evaluated Prospectively Unknown status NCT02478554
5 Sulfonylurea Response in Patients With Diabetes Due to Kir6.2 Mutations Completed NCT00334711
6 Genetic Modifiers of Cystic Fibrosis Related Diabetes Recruiting NCT01113216

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal

Genetic Tests for Diabetes Mellitus, Permanent Neonatal

Genetic tests related to Diabetes Mellitus, Permanent Neonatal:

id Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 29 24 PDX1
2 Diabetes Mellitus, Permanent Neonatal, with Neurologic Features 29
3 Developmental Delay, Epilepsy, and Neonatal Diabetes 29

Anatomical Context for Diabetes Mellitus, Permanent Neonatal

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

39
Pancreas, Heart

Publications for Diabetes Mellitus, Permanent Neonatal

Variations for Diabetes Mellitus, Permanent Neonatal

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

66 (show top 50) (show all 60)
id Symbol AA change Variation ID SNP ID
1 ABCC8 p.Phe132Leu VAR_029778 rs80356637
2 ABCC8 p.Leu213Arg VAR_029779 rs80356642
3 ABCC8 p.Ile1424Val VAR_029787 rs80356653
4 ABCC8 p.Val86Ala VAR_031354 rs193929360
5 ABCC8 p.Gly1400Arg VAR_031380 rs137852676
6 ABCC8 p.Pro45Leu VAR_072928 rs267606623
7 ABCC8 p.Asn72Ser VAR_072929 rs80356634
8 ABCC8 p.Val86Gly VAR_072930 rs193929360
9 ABCC8 p.Phe132Val VAR_072931 rs80356637
10 ABCC8 p.Pro207Ser VAR_072932
11 ABCC8 p.Glu208Lys VAR_072933
12 ABCC8 p.Asp209Glu VAR_072934 rs80356640
13 ABCC8 p.Gln211Lys VAR_072935 rs193929366
14 ABCC8 p.Leu225Pro VAR_072936 rs1048095
15 ABCC8 p.Thr229Ile VAR_072937 rs768017509
16 ABCC8 p.Tyr263Asp VAR_072938 rs778892038
17 ABCC8 p.Glu382Lys VAR_072939 rs80356651
18 ABCC8 p.Ala1184Glu VAR_072944 rs137852675
19 ABCC8 p.Glu1326Lys VAR_072945 rs200563930
20 ABCC8 p.Val1522Leu VAR_072953
21 INS p.Ala24Asp VAR_063723 rs80356663
22 INS p.His29Asp VAR_063724 rs121908272
23 INS p.Gly32Arg VAR_063725 rs80356664
24 INS p.Gly32Ser VAR_063726 rs80356664
25 INS p.Leu35Pro VAR_063727 rs121908273
26 INS p.Cys43Gly VAR_063728 rs80356666
27 INS p.Gly47Val VAR_063730 rs80356667
28 INS p.Phe48Cys VAR_063731 rs80356668
29 INS p.Arg89Cys VAR_063735 rs80356669
30 INS p.Gly90Cys VAR_063736 rs80356670
31 INS p.Cys96Ser VAR_063737 rs80356671
32 INS p.Cys96Tyr VAR_063738 rs80356671
33 INS p.Ser101Cys VAR_063739 rs121908276
34 INS p.Tyr103Cys VAR_063740 rs121908277
35 INS p.Tyr108Cys VAR_063741 rs80356672
36 KCNJ11 p.Phe35Leu VAR_026498
37 KCNJ11 p.Phe35Val VAR_026499
38 KCNJ11 p.Arg50Pro VAR_026500
39 KCNJ11 p.Gln52Arg VAR_026501
40 KCNJ11 p.Val59Gly VAR_026504
41 KCNJ11 p.Val59Met VAR_026505
42 KCNJ11 p.Lys170Asn VAR_026508
43 KCNJ11 p.Lys170Arg VAR_026509
44 KCNJ11 p.Arg201Cys VAR_026511
45 KCNJ11 p.Arg201His VAR_026512
46 KCNJ11 p.Ile296Leu VAR_026514
47 KCNJ11 p.Glu322Lys VAR_026515
48 KCNJ11 p.Tyr330Cys VAR_026516
49 KCNJ11 p.Phe333Ile VAR_026517
50 KCNJ11 p.His46Tyr VAR_031332

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal:

6 (show top 50) (show all 69)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh37 Chromosome 11, 17409037: 17409037
2 KCNJ11 NM_000525.3(KCNJ11): c.175G> A (p.Val59Met) single nucleotide variant Pathogenic rs80356616 GRCh37 Chromosome 11, 17409464: 17409464
3 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh37 Chromosome 11, 17409038: 17409038
4 KCNJ11 NM_000525.3(KCNJ11): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic rs80356617 GRCh37 Chromosome 11, 17409463: 17409463
5 KCNJ11 NM_000525.3(KCNJ11): c.149G> C (p.Arg50Pro) single nucleotide variant Pathogenic rs80356611 GRCh37 Chromosome 11, 17409490: 17409490
6 KCNJ11 NM_000525.3(KCNJ11): c.509A> G (p.Lys170Arg) single nucleotide variant Pathogenic rs80356621 GRCh37 Chromosome 11, 17409130: 17409130
7 KCNJ11 NM_000525.3(KCNJ11): c.510G> C (p.Lys170Asn) single nucleotide variant Pathogenic rs80356622 GRCh37 Chromosome 11, 17409129: 17409129
8 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
9 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
10 KCNJ11 NM_000525.3(KCNJ11): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs80356618 GRCh37 Chromosome 11, 17409142: 17409142
11 KCNJ11 NM_000525.3(KCNJ11): c.499A> C (p.Ile167Leu) single nucleotide variant Pathogenic rs80356620 GRCh37 Chromosome 11, 17409140: 17409140
12 KCNJ11 NM_000525.3(KCNJ11): c.158G> A (p.Gly53Asp) single nucleotide variant Pathogenic rs80356615 GRCh37 Chromosome 11, 17409481: 17409481
13 ABCC8 ABCC8, GLY1401ARG undetermined variant Pathogenic
14 ABCC8 NM_000352.4(ABCC8): c.394T> C (p.Phe132Leu) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
15 ABCC8 NM_000352.4(ABCC8): c.638T> G (p.Leu213Arg) single nucleotide variant Pathogenic rs80356642 GRCh37 Chromosome 11, 17483314: 17483314
16 ABCC8 NM_000352.4(ABCC8): c.4270A> G (p.Ile1424Val) single nucleotide variant Pathogenic rs80356653 GRCh37 Chromosome 11, 17417194: 17417194
17 ABCC8 NM_000352.4(ABCC8): c.215A> G (p.Asn72Ser) single nucleotide variant Pathogenic rs80356634 GRCh37 Chromosome 11, 17496508: 17496508
18 ABCC8 NM_000352.4(ABCC8): c.1144G> A (p.Glu382Lys) single nucleotide variant Pathogenic rs80356651 GRCh37 Chromosome 11, 17474698: 17474698
19 ABCC8 NM_000352.4(ABCC8): c.3554C> A (p.Ser1185Tyr) single nucleotide variant Pathogenic rs193929369 GRCh37 Chromosome 11, 17426062: 17426062
20 ABCC8 NM_001287174.1(ABCC8): c.134C> T (p.Pro45Leu) single nucleotide variant Pathogenic rs267606623 GRCh37 Chromosome 11, 17498190: 17498190
21 ABCC8 NM_000352.4(ABCC8): c.257T> G (p.Val86Gly) single nucleotide variant Pathogenic rs193929360 GRCh37 Chromosome 11, 17496466: 17496466
22 INS NM_000207.2(INS): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs80356671 GRCh37 Chromosome 11, 2181128: 2181128
23 INS NM_000207.2(INS): c.71C> A (p.Ala24Asp) single nucleotide variant Pathogenic rs80356663 GRCh37 Chromosome 11, 2182131: 2182131
24 INS NM_000207.2(INS): c.143T> G (p.Phe48Cys) single nucleotide variant Pathogenic rs80356668 GRCh37 Chromosome 11, 2182059: 2182059
25 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
26 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh37 Chromosome 7, 44189409: 44189409
27 GCK NM_000162.3(GCK): c.1019+2T> G single nucleotide variant Pathogenic rs193929376 GRCh37 Chromosome 7, 44186060: 44186060
28 GCK NM_000162.3(GCK): c.1133C> T (p.Ala378Val) single nucleotide variant Pathogenic rs193929374 GRCh37 Chromosome 7, 44185216: 44185216
29 GCK NM_000162.3(GCK): c.1190G> T (p.Arg397Leu) single nucleotide variant Pathogenic rs193929375 GRCh37 Chromosome 7, 44185159: 44185159
30 GCK NM_000162.3(GCK): c.790G> A (p.Gly264Ser) single nucleotide variant Pathogenic rs193929373 GRCh37 Chromosome 7, 44187322: 44187322
31 INS NM_000207.2(INS): c.127T> G (p.Cys43Gly) single nucleotide variant Pathogenic rs80356666 GRCh37 Chromosome 11, 2182075: 2182075
32 INS NM_000207.2(INS): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs80356667 GRCh37 Chromosome 11, 2182062: 2182062
33 INS NM_000207.2(INS): c.265C> T (p.Arg89Cys) single nucleotide variant Pathogenic rs80356669 GRCh37 Chromosome 11, 2181150: 2181150
34 INS NM_000207.2(INS): c.268G> T (p.Gly90Cys) single nucleotide variant Pathogenic rs80356670 GRCh37 Chromosome 11, 2181147: 2181147
35 INS NM_000207.2(INS): c.323A> G (p.Tyr108Cys) single nucleotide variant Pathogenic rs80356672 GRCh37 Chromosome 11, 2181092: 2181092
36 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
37 INS NM_000207.2(INS): c.94G> C (p.Gly32Arg) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
38 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
39 KCNJ11 NM_000525.3(KCNJ11): c.103T> G (p.Phe35Val) single nucleotide variant Pathogenic rs193929333 GRCh38 Chromosome 11, 17387989: 17387989
40 ABCC8 NM_000352.4(ABCC8): c.257T> C (p.Val86Ala) single nucleotide variant Pathogenic rs193929360 GRCh37 Chromosome 11, 17496466: 17496466
41 ABCC8 NM_000352.4(ABCC8): c.394T> G (p.Phe132Val) single nucleotide variant Pathogenic rs80356637 GRCh37 Chromosome 11, 17491666: 17491666
42 ABCC8 NM_000352.4(ABCC8): c.404T> C (p.Leu135Pro) single nucleotide variant Pathogenic rs193929364 GRCh37 Chromosome 11, 17491656: 17491656
43 ABCC8 NM_000352.4(ABCC8): c.627C> A (p.Asp209Glu) single nucleotide variant Pathogenic rs80356640 GRCh37 Chromosome 11, 17483325: 17483325
44 ABCC8 NM_000352.4(ABCC8): c.631C> A (p.Gln211Lys) single nucleotide variant Pathogenic rs193929366 GRCh37 Chromosome 11, 17483321: 17483321
45 ABCC8 NM_000352.4(ABCC8): c.674T> C (p.Leu225Pro) single nucleotide variant Pathogenic rs1048095 GRCh37 Chromosome 11, 17483278: 17483278
46 KCNJ11 NM_000525.3(KCNJ11): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic rs193929358 GRCh37 Chromosome 11, 17408638: 17408638
47 KCNJ11 NM_000525.3(KCNJ11): c.103T> C (p.Phe35Leu) single nucleotide variant Pathogenic rs193929333 GRCh37 Chromosome 11, 17409536: 17409536
48 KCNJ11 NM_000525.3(KCNJ11): c.155A> G (p.Gln52Arg) single nucleotide variant Pathogenic rs193929337 GRCh37 Chromosome 11, 17409484: 17409484
49 KCNJ11 NM_000525.3(KCNJ11): c.497G> A (p.Cys166Tyr) single nucleotide variant Pathogenic rs80356618 GRCh37 Chromosome 11, 17409142: 17409142
50 KCNJ11 NM_000525.3(KCNJ11): c.544A> G (p.Ile182Val) single nucleotide variant Pathogenic rs193929348 GRCh37 Chromosome 11, 17409095: 17409095

Expression for Diabetes Mellitus, Permanent Neonatal

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

Pathways for Diabetes Mellitus, Permanent Neonatal

GO Terms for Diabetes Mellitus, Permanent Neonatal

Cellular components related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.85 GATA6 GLIS3 NEUROG3 PDX1 PTF1A
2 response to drug GO:0042493 9.84 ABCC8 GATA6 KCNJ11 PDX1
3 glucose homeostasis GO:0042593 9.69 GCK INS PDX1
4 negative regulation of insulin secretion GO:0046676 9.57 ABCC8 KCNJ11
5 positive regulation of protein localization to nucleus GO:1900182 9.56 EIF2AK3 INS
6 hindbrain development GO:0030902 9.55 NEUROG3 PTF1A
7 cellular glucose homeostasis GO:0001678 9.52 ABCC8 GCK
8 positive regulation of glycogen biosynthetic process GO:0045725 9.49 GCK INS
9 negative regulation of gluconeogenesis GO:0045721 9.48 GCK INS
10 regulation of insulin secretion GO:0050796 9.46 ABCC8 GCK KCNJ11 SYT9
11 type B pancreatic cell differentiation GO:0003309 9.43 GATA6 PDX1
12 pancreas development GO:0031016 9.43 GATA6 PDX1 PTF1A
13 transdifferentiation GO:0060290 9.4 NEUROG3 PDX1
14 exocrine pancreas development GO:0031017 9.37 PDX1 PTF1A
15 detection of glucose GO:0051594 9.32 GCK PDX1
16 glucose metabolic process GO:0006006 9.26 GCK INS KCNJ11 PDX1
17 endocrine pancreas development GO:0031018 8.92 EIF2AK3 MNX1 NEUROG3 PDX1

Molecular functions related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Diabetes Mellitus, Permanent Neonatal

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