PNDM1
MCID: DBT104
MIFTS: 51

Diabetes Mellitus, Permanent Neonatal, 1 (PNDM1)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, 1

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal, 1:

Name: Diabetes Mellitus, Permanent Neonatal, 1 57 73
Permanent Diabetes Mellitus of Infancy 73 5
Permanent Neonatal Diabetes Mellitus 1 28 5
Dend Syndrome 58 5
Pndm1 57 73
Pdmi 57 73
Diabetes Mellitus Permanent Neonatal with Neurologic Features 73
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 58
Developmental Delay Epilepsy and Neonatal Diabetes 73
Diabetes Mellitus, Permanent Neonatal, Type 1 38
Diabetes Mellitus, Permanent, of Infancy 57
Diabetes Mellitus, Permanent Neonatal 1 57
Dend 73

Characteristics:


Inheritance:

Diabetes Mellitus, Permanent Neonatal, 1: Autosomal recessive 57
Dend Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Dend Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Dend Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset as newborn


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Diabetes Mellitus, Permanent Neonatal, 1

OMIM®: 57 Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well (Njolstad et al., 2001). PNDM is distinct from transient neonatal diabetes mellitus (TNDM; see 601410) and childhood-onset autoimmune diabetes mellitus type I (IDDM; 222100). (606176) (Updated 08-Dec-2022)

MalaCards based summary: Diabetes Mellitus, Permanent Neonatal, 1, also known as permanent diabetes mellitus of infancy, is related to diabetes mellitus, permanent neonatal, 4 and cantu syndrome. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 1 is GCK (Glucokinase), and among its related pathways/superpathways are Integration of energy metabolism and Disorders of transmembrane transporters. Affiliated tissues include skeletal muscle, pancreas and lung, and related phenotypes are hyperglycemia and elevated hemoglobin a1c

UniProtKB/Swiss-Prot: 73 An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive.

Orphanet: 58 DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.

Related Diseases for Diabetes Mellitus, Permanent Neonatal, 1

Diseases in the Permanent Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Permanent Neonatal, 1 Diabetes Mellitus, Permanent Neonatal, 2
Diabetes Mellitus, Permanent Neonatal, 3 Diabetes Mellitus, Permanent Neonatal, 4

Diseases related to Diabetes Mellitus, Permanent Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal, 4 31.3 INS-IGF2 INS
2 cantu syndrome 29.9 KCNJ11 ABCC8
3 permanent neonatal diabetes mellitus 29.9 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
4 hypoglycemia 29.4 KCNJ11 INS GCK ABCC8
5 neonatal diabetes 29.4 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
6 monogenic diabetes 29.3 KCNJ11 INS-IGF2 INS GCK ABCC8
7 diabetes mellitus 28.6 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
8 intermediate dend syndrome 11.4
9 diabetes mellitus, transient neonatal, 1 10.9
10 diabetes mellitus, permanent neonatal, 2 10.9
11 diabetes mellitus, permanent neonatal, 3 10.9
12 epilepsy 10.3
13 epilepsy, idiopathic generalized 10.2
14 microvascular complications of diabetes 1 10.2
15 diabetes mellitus, transient neonatal, 3 10.2
16 diabetic neuropathy 10.2
17 hypotonia 10.2
18 hyperinsulinemic hypoglycemia, familial, 3 10.1 GCK ABCC8
19 fructose-1,6-bisphosphatase deficiency 10.1 GCK ABCC8
20 cardiomyopathy, dilated, 1o 10.1 KCNJ11 ABCC8
21 hypoglycemia, leucine-induced 10.0 KCNJ11 ABCC8
22 coronary artery vasospasm 10.0 KCNJ11 ABCC8
23 fanconi-bickel syndrome 10.0 INS ABCC8
24 hyperinsulinemic hypoglycemia, familial, 1 10.0 KCNJ11 ABCC8
25 donohue syndrome 10.0 INS GCK
26 type 1 diabetes mellitus 12 10.0 KCNJ11 INS
27 newborn respiratory distress syndrome 10.0 INS ABCC8
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
29 tatton-brown-rahman syndrome 10.0
30 west syndrome 10.0
31 aspiration pneumonia 10.0
32 visual epilepsy 10.0
33 hypokalemia 10.0
34 children's interstitial lung disease 10.0
35 neonatal dermatomyositis 10.0
36 umbilical hernia 10.0 KCNJ11 ABCC8
37 diabetes mellitus, ketosis-prone 9.9 KCNJ11 INS
38 hyperproinsulinemia 9.9 INS-IGF2 INS
39 munchausen by proxy 9.9 KCNJ11 GCK ABCC8
40 maturity-onset diabetes of the young, type 14 9.9 KCNJ11 GCK ABCC8
41 hyperinsulinemic hypoglycemia, familial, 7 9.9 KCNJ11 GCK ABCC8
42 hyperinsulinemic hypoglycemia, familial, 6 9.9 KCNJ11 GCK ABCC8
43 abdominal obesity-metabolic syndrome 1 9.9 INS GCK
44 type 1 diabetes mellitus 2 9.9 INS-IGF2 INS
45 intestinal atresia 9.8 PDX1 GCK
46 fetal erythroblastosis 9.8 KCNJ11 INS ABCC8
47 type 1 diabetes mellitus 6 9.8 PDX1 INS
48 hypokalemic periodic paralysis, type 1 9.8 KCNJ11 INS
49 asphyxia neonatorum 9.8 KCNJ11 INS ABCC8
50 hyperinsulinemic hypoglycemia, familial, 2 9.8 KCNJ11 INS ABCC8

Graphical network of the top 20 diseases related to Diabetes Mellitus, Permanent Neonatal, 1:



Diseases related to Diabetes Mellitus, Permanent Neonatal, 1

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal, 1

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal, 1:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperglycemia 58 30 Obligate (100%) Obligate (100%)
HP:0003074
2 elevated hemoglobin a1c 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0040217
3 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
4 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
5 mild global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011342
6 axial hypotonia 30 Frequent (33%) HP:0008936
7 short nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003196
8 anteverted nares 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000463
9 dehydration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001944
10 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002013
11 downturned corners of mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002714
12 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
13 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
14 prominent metopic ridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005487
15 hypsarrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002521
16 thickened ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009894
17 bilateral ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001488
18 clinodactyly of the 4th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040025
19 type i diabetes mellitus 30 Very rare (1%) HP:0100651
20 intrauterine growth retardation 30 Very rare (1%) HP:0001511
21 small for gestational age 30 Very rare (1%) HP:0001518
22 muscular hypotonia of the trunk 58 Frequent (79-30%)
23 autoimmune antibody positivity 58 Excluded (0%)
24 reduced c-peptide level 30 HP:0030795

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
intrauterine growth retardation
small for gestational age

Growth Weight:
low birth weight

Laboratory Abnormalities:
hyperglycemia
elevated hemoglobin a1c
low-undetectable basal serum c-peptide
low-undetectable glucagon-stimulated serum c-peptide
normal plasma glucagon
more
Endocrine Features:
neonatal diabetes mellitus

Clinical features from OMIM®:

606176 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 ABCC8 INS KCNJ11 PDX1
2 endocrine/exocrine gland MP:0005379 9.02 ABCC8 GCK INS KCNJ11 PDX1

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, 1

Search Clinical Trials, NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, 1

Genetic Tests for Diabetes Mellitus, Permanent Neonatal, 1

Genetic tests related to Diabetes Mellitus, Permanent Neonatal, 1:

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 1 28 GCK

Anatomical Context for Diabetes Mellitus, Permanent Neonatal, 1

Organs/tissues related to Diabetes Mellitus, Permanent Neonatal, 1:

MalaCards : Skeletal Muscle, Pancreas, Lung, Liver, Brain

Publications for Diabetes Mellitus, Permanent Neonatal, 1

Articles related to Diabetes Mellitus, Permanent Neonatal, 1:

(show top 50) (show all 152)
# Title Authors PMID Year
1
Neonatal diabetes mellitus due to complete glucokinase deficiency. 57 5
11372010 2001
2
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. 62 5
16636122 2006
3
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. 62 5
16609879 2006
4
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype. 5
32418263 2020
5
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. 5
28247534 2017
6
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 5
27908292 2016
7
Clinical and genetic characterization of congenital hyperinsulinism in Spain. 5
27188453 2016
8
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 5
23345197 2013
9
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 5
23275527 2013
10
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 5
22311976 2012
11
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 5
21812132 2011
12
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 5
21422196 2011
13
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 5
20685672 2010
14
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 5
19884385 2009
15
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. 5
18767144 2009
16
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 57
18571549 2008
17
Neonatal diabetes mellitus. 5
18436707 2008
18
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 5
18250167 2008
19
Molecular basis of neonatal diabetes in Japanese patients. 5
17635943 2007
20
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. 5
17673911 2007
21
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. 5
17490422 2007
22
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 5
17446535 2007
23
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. 5
17021801 2006
24
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. 5
17296510 2006
25
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. 5
16885550 2006
26
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. 5
16731833 2006
27
Molecular genetics goes to the diabetes clinic. 5
16268330 2005
28
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 5
15562009 2005
29
Toward linking structure with function in ATP-sensitive K+ channels. 5
15561897 2004
30
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. 57
14578306 2003
31
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 5
12524280 2003
32
SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions. 5
12213829 2002
33
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. 57
11942315 2002
34
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 5
11395395 2001
35
Neonatal diabetes: new insights into aetiology and implications. 57
10895036 2000
36
The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels. 5
10049691 1999
37
Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP. 5
9831713 1999
38
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 5
9049484 1997
39
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. 5
1502186 1992
40
Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation. 62
35648253 2022
41
Dominant Carbapenemase-Encoding Plasmids in Clinical Enterobacterales Isolates and Hypervirulent Klebsiella pneumoniae, Singapore. 62
35876475 2022
42
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. 62
35703918 2022
43
Canola as a potential forage. 62
35967765 2022
44
Structural analysis of the microglia-interneuron interactions in the CA1 hippocampal area of the APP/PS1 mouse model of Alzheimer's disease. 62
34919273 2022
45
Reverse atom transfer radical polymerization of dimethyl itaconate initiated by a new azo initiator: AIBME. 62
35520115 2022
46
MRI-assessed tumor-free distance to serosa predicts deep myometrial invasion and poor outcome in endometrial cancer. 62
35000020 2022
47
Effect of supplement crude protein concentration on milk production over the main grazing season and on nitrogen excretion in late-lactation grazing dairy cows. 62
34635358 2022
48
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2. 62
34999583 2022
49
Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation. 62
34272607 2021
50
Patients', carers' and clinicians' attitudes towards alternative terms to describe the at-risk for psychosis state. 62
34507056 2021

Variations for Diabetes Mellitus, Permanent Neonatal, 1

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 1:

5 (show top 50) (show all 359)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCK NM_000162.5(GCK):c.1019+2T>G SNV Pathogenic
21075 rs193929376 GRCh37: 7:44186060-44186060
GRCh38: 7:44146461-44146461
2 KCNJ11 NM_000525.4(KCNJ11):c.368dup (p.Ser124fs) DUP Pathogenic
522957 rs1554901822 GRCh37: 11:17409270-17409271
GRCh38: 11:17387723-17387724
3 INS-IGF2, INS NM_000207.3(INS):c.188-31G>A SNV Pathogenic
211186 rs797045623 GRCh37: 11:2181258-2181258
GRCh38: 11:2160028-2160028
4 ABCC8 NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) SNV Pathogenic
434047 rs1554909277 GRCh37: 11:17424265-17424265
GRCh38: 11:17402718-17402718
5 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic
188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
6 ABCC8 NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) SNV Pathogenic
9105 rs137852673 GRCh37: 11:17417462-17417462
GRCh38: 11:17395915-17395915
7 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic
265175 rs769268803 GRCh37: 7:44187346-44187346
GRCh38: 7:44147747-44147747
8 INS-IGF2, INS NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV Pathogenic
21117 rs80356669 GRCh37: 11:2181150-2181150
GRCh38: 11:2159920-2159920
9 GCK NM_000162.5(GCK):c.629T>A (p.Met210Lys) SNV Pathogenic
Not Provided
16141 rs80356654 GRCh37: 7:44189409-44189409
GRCh38: 7:44149810-44149810
10 KCNJ11 NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) SNV Pathogenic
36431 rs80356611 GRCh37: 11:17409490-17409490
GRCh38: 11:17387943-17387943
11 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic
495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
12 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs) DEL Pathogenic
21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
13 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic
36243 rs148311934 GRCh37: 7:44189362-44189362
GRCh38: 7:44149763-44149763
14 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic
435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
15 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic
129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
16 GCK NM_000162.5(GCK):c.683C>T (p.Thr228Met) SNV Pathogenic
16134 rs80356655 GRCh37: 7:44187429-44187429
GRCh38: 7:44147830-44147830
17 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) SNV Likely Pathogenic
35617 rs193922402 GRCh37: 11:17417158-17417158
GRCh38: 11:17395611-17395611
18 GCK NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) SNV Likely Pathogenic
36200 rs193922283 GRCh37: 7:44184775-44184775
GRCh38: 7:44145176-44145176
19 GCK NM_000162.5(GCK):c.359dup (p.Met121fs) DUP Likely Pathogenic
1074406 GRCh37: 7:44191873-44191874
GRCh38: 7:44152274-44152275
20 GCK NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) SNV Likely Pathogenic
521398 rs758737171 GRCh37: 7:44184809-44184809
GRCh38: 7:44145210-44145210
21 KCNJ11 NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) DEL Likely Pathogenic
947372 rs1953591118 GRCh37: 11:17409481-17409487
GRCh38: 11:17387934-17387940
22 KCNJ11 NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) DUP Likely Pathogenic
1065989 GRCh37: 11:17409233-17409234
GRCh38: 11:17387686-17387687
23 ABCC8 NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) SNV Likely Pathogenic
434057 rs1554904936 GRCh37: 11:17417199-17417199
GRCh38: 11:17395652-17395652
24 ABCC8 NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) SNV Likely Pathogenic
35623 rs193922408 GRCh37: 11:17414669-17414669
GRCh38: 11:17393122-17393122
25 KCNJ11 NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) SNV Likely Pathogenic
8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
26 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Likely Pathogenic
434045 rs72559715 GRCh37: 11:17415926-17415926
GRCh38: 11:17394379-17394379
27 ABCC8 NM_000352.6(ABCC8):c.290+2T>C SNV Likely Pathogenic
552247 rs1554948310 GRCh37: 11:17496431-17496431
GRCh38: 11:17474884-17474884
28 KCNJ11 NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) SNV Likely Pathogenic
8683 rs74339576 GRCh37: 11:17408737-17408737
GRCh38: 11:17387190-17387190
29 INS-IGF2, INS NM_000207.3(INS):c.308A>G (p.Tyr103Cys) SNV Likely Pathogenic
68732 rs121908277 GRCh37: 11:2181107-2181107
GRCh38: 11:2159877-2159877
30 KCNJ11 NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) DUP Likely Pathogenic
555247 rs1337406718 GRCh37: 11:17408574-17408575
GRCh38: 11:17387027-17387028
31 KCNJ11 NM_000525.4(KCNJ11):c.718dup (p.Met240fs) DUP Likely Pathogenic
555590 rs1554901718 GRCh37: 11:17408920-17408921
GRCh38: 11:17387373-17387374
32 KCNJ11 NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) SNV Likely Pathogenic
586105 rs1564865232 GRCh37: 11:17408865-17408865
GRCh38: 11:17387318-17387318
33 KCNJ11 NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) SNV Likely Pathogenic
551187 rs1371185696 GRCh37: 11:17409079-17409079
GRCh38: 11:17387532-17387532
34 KCNJ11 NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) SNV Likely Pathogenic
1219242 GRCh37: 11:17409538-17409538
GRCh38: 11:17387991-17387991
35 KCNJ11 NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) SNV Likely Pathogenic
557416 rs954727530 GRCh37: 11:17409539-17409539
GRCh38: 11:17387992-17387992
36 KCNJ11 NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) DUP Likely Pathogenic
553023 rs1554901690 GRCh37: 11:17408867-17408868
GRCh38: 11:17387320-17387321
37 KCNJ11 NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) MICROSAT Likely Pathogenic
556063 rs1554901829 GRCh37: 11:17409273-17409276
GRCh38: 11:17387726-17387729
38 KCNJ11 NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) SNV Likely Pathogenic
557258 rs587783669 GRCh37: 11:17409141-17409141
GRCh38: 11:17387594-17387594
39 KCNJ11 NM_000525.4(KCNJ11):c.290dup (p.His97fs) DUP Likely Pathogenic
557649 rs1554901854 GRCh37: 11:17409348-17409349
GRCh38: 11:17387801-17387802
40 INS-IGF2, INS NM_000207.3(INS):c.26C>G (p.Pro9Arg) SNV Likely Pathogenic
626220 rs1564912403 GRCh37: 11:2182176-2182176
GRCh38: 11:2160946-2160946
41 ABCC8 NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) SNV Uncertain Significance
877186 rs201724038 GRCh37: 11:17448655-17448655
GRCh38: 11:17427108-17427108
42 ABCC8 NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) SNV Uncertain Significance
877309 rs370169777 GRCh37: 11:17470126-17470126
GRCh38: 11:17448579-17448579
43 ABCC8 NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) SNV Uncertain Significance
878288 rs763794263 GRCh37: 11:17453779-17453779
GRCh38: 11:17432232-17432232
44 ABCC8 NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) SNV Uncertain Significance
879471 rs774965446 GRCh37: 11:17418746-17418746
GRCh38: 11:17397199-17397199
45 ABCC8 NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) SNV Uncertain Significance
880150 rs778892038 GRCh37: 11:17483165-17483165
GRCh38: 11:17461618-17461618
46 GCK NM_000162.5(GCK):c.1120G>T (p.Val374Leu) SNV Uncertain Significance
908614 rs1415041911 GRCh37: 7:44185229-44185229
GRCh38: 7:44145630-44145630
47 GCK NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) SNV Uncertain Significance
908615 rs1000236360 GRCh37: 7:44185325-44185325
GRCh38: 7:44145726-44145726
48 GCK NM_000162.5(GCK):c.580-11C>T SNV Uncertain Significance
908684 rs370016334 GRCh37: 7:44189469-44189469
GRCh38: 7:44149870-44149870
49 GCK NM_000162.5(GCK):c.-102G>C SNV Uncertain Significance
908804 rs781377703 GRCh37: 7:44228654-44228654
GRCh38: 7:44189055-44189055
50 GCK NM_000162.5(GCK):c.-449G>A SNV Uncertain Significance
908863 rs1375544246 GRCh37: 7:44229001-44229001
GRCh38: 7:44189402-44189402

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 1:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GCK p.Thr228Met VAR_003705 rs80356655
2 GCK p.Gly261Arg VAR_003708 rs104894008
3 GCK p.Leu164Pro VAR_012350
4 GCK p.Met210Lys VAR_012351 rs80356654
5 GCK p.Glu40Lys VAR_079433 rs794727236
6 GCK p.Arg43Cys VAR_079434 rs1486280029
7 GCK p.His50Asp VAR_079437
8 GCK p.Gly72Arg VAR_079440 rs193922289
9 GCK p.Ser151Thr VAR_079446
10 GCK p.Thr168Ala VAR_079448
11 GCK p.Lys169Arg VAR_079449
12 GCK p.Met393Thr VAR_079469
13 GCK p.Arg397Leu VAR_079470 rs193929375
14 GCK p.Ser441Leu VAR_079475 rs1286804191
15 GCK p.Ala449Thr VAR_079476 rs193922282

Expression for Diabetes Mellitus, Permanent Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal, 1.

Pathways for Diabetes Mellitus, Permanent Neonatal, 1

Pathways related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 KCNJ11 INS ABCC8
2
Show member pathways
11.98 KCNJ11 GCK ABCC8
3
Show member pathways
11.59 PDX1 INS GCK
4
Show member pathways
11.39 PDX1 INS GCK
5 11.2 KCNJ11 ABCC8
6 11.15 KCNJ11 ABCC8
7
Show member pathways
10.99 PDX1 KCNJ11 INS GCK ABCC8
8 10.67 PDX1 KCNJ11 INS-IGF2
9 10.47 PDX1 KCNJ11 INS GCK ABCC8

GO Terms for Diabetes Mellitus, Permanent Neonatal, 1

Cellular components related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.92 KCNJ11 ABCC8

Biological processes related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to xenobiotic stimulus GO:0009410 9.95 PDX1 KCNJ11 ABCC8
2 positive regulation of insulin secretion GO:0032024 9.83 PDX1 GCK
3 regulation of insulin secretion GO:0050796 9.81 KCNJ11 GCK
4 potassium ion import across plasma membrane GO:1990573 9.8 KCNJ11 ABCC8
5 negative regulation of insulin secretion GO:0046676 9.76 KCNJ11 ABCC8
6 cellular glucose homeostasis GO:0001678 9.73 GCK ABCC8
7 glucose homeostasis GO:0042593 9.73 PDX1 INS GCK
8 inorganic cation transmembrane transport GO:0098662 9.71 KCNJ11 ABCC8
9 negative regulation of gluconeogenesis GO:0045721 9.67 GCK INS
10 positive regulation of glycogen biosynthetic process GO:0045725 9.62 INS GCK
11 detection of glucose GO:0051594 9.46 PDX1 GCK
12 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.26 PDX1 KCNJ11 ABCC8
13 glucose metabolic process GO:0006006 9.23 PDX1 KCNJ11 INS GCK

Molecular functions related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase-coupled monoatomic cation transmembrane transporter activity GO:0019829 9.26 KCNJ11 ABCC8
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ11 ABCC8

Sources for Diabetes Mellitus, Permanent Neonatal, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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