Diabetes Mellitus, Permanent Neonatal, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Endocrine diseases Mental diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Certain conditions originating in the perinatal period

Transitory endocrine and metabolic disorders specific to fetus and newborn

Transitory disorders of carbohydrate metabolism specific to fetus and newborn

Neonatal diabetes mellitus

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

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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.

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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:

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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

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Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, 1

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

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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

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Anatomical Context for Diabetes Mellitus, Permanent Neonatal, 1

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

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

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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	Njolstad PR...Bell GI	11372010	2001
2	Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. ⁶² ⁵	Slingerland AS...Hattersley AT	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	Flanagan SE...Hattersley AT	16609879	2006
4	Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype. ⁵	Garcin L...Beltrand J	32418263	2020
5	Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. ⁵	Martinez R...Castano L	28247534	2017
6	Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ⁵	Salomon-Estebanez M...Banerjee I	27908292	2016
7	Clinical and genetic characterization of congenital hyperinsulinism in Spain. ⁵	Martinez R...Spanish Congenital Hyperinsulinism Group	27188453	2016
8	Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. ⁵	Kapoor RR...Hussain K	23345197	2013
9	Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. ⁵	Snider KE...Ganguly A	23275527	2013
10	Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. ⁵	Wang F...Shyng SL	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	Park SE...Yang SW	21422196	2011
13	ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. ⁵	Bellanne-Chantelot C...de Lonlay P	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	Barbetti F...Cuesta-Munoz AL	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	Flanagan SE...Ellard S	18767144	2009
16	Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. ⁵⁷	Turkkahraman D...Gloyn AL	18571549	2008
17	Neonatal diabetes mellitus. ⁵	Aguilar-Bryan L...Bryan J	18436707	2008
18	Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. ⁵	Lin YW...Shyng SL	18250167	2008
19	Molecular basis of neonatal diabetes in Japanese patients. ⁵	Suzuki S...Fujieda K	17635943	2007
20	Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. ⁵	Haider S...Ashcroft FM	17673911	2007
21	The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. ⁵	Rica I...Castano L	17490422	2007
22	Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. ⁵	Flanagan SE...Hattersley AT	17446535	2007
23	Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. ⁵	Girard CA...Ashcroft FM	17021801	2006
24	Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. ⁵	Flechtner I...Polak M	17296510	2006
25	Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. ⁵	Pearson ER...Neonatal Diabetes International Collaborative Group	16885550	2006
26	Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. ⁵	Shimomura K...Ashcroft FM	16731833	2006
27	Molecular genetics goes to the diabetes clinic. ⁵	Hattersley AT	16268330	2005
28	Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. ⁵	Henwood MJ...Stanley CA	15562009	2005
29	Toward linking structure with function in ATP-sensitive K+ channels. ⁵	Bryan J...Aguilar-Bryan L	15561897	2004
30	Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. ⁵⁷	Njolstad PR...Matschinsky FM	14578306	2003
31	Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. ⁵	Ribalet B...Weiss JN	12524280	2003
32	SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions. ⁵	Babenko AP...Bryan J	12213829	2002
33	Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. ⁵⁷	Gloyn AL...Hattersley AT	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	Fournet JC...Junien C	11395395	2001
35	Neonatal diabetes: new insights into aetiology and implications. ⁵⁷	Shield JP	10895036	2000
36	The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels. ⁵	Babenko AP...Bryan J	10049691	1999
37	Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP. ⁵	Proks P...Ashcroft FM	9831713	1999
38	Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. ⁵	Velho G...Froguel P	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	Stoffel M...Lesage S	1502186	1992
40	Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation. ⁶²	Tikhonovich Y...Tiulpakov A	35648253	2022
41	Dominant Carbapenemase-Encoding Plasmids in Clinical Enterobacterales Isolates and Hypervirulent Klebsiella pneumoniae, Singapore. ⁶²	Yong M...Gan YH	35876475	2022
42	Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. ⁶²	Yagasaki H...Inukai T	35703918	2022
43	Canola as a potential forage. ⁶²	Safaei AR...Aghaalikhani M	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	Gervais E...Topolnik L	34919273	2022
45	Reverse atom transfer radical polymerization of dimethyl itaconate initiated by a new azo initiator: AIBME. ⁶²	Zhang X...Wang R	35520115	2022
46	MRI-assessed tumor-free distance to serosa predicts deep myometrial invasion and poor outcome in endometrial cancer. ⁶²	Dybvik JA...Haldorsen IS	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	Doran MJ...Pierce KM	34635358	2022
48	Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2. ⁶²	McClenaghan C...Cianfarani S	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	Barash G...Rachmiel M	34272607	2021
50	Patients', carers' and clinicians' attitudes towards alternative terms to describe the at-risk for psychosis state. ⁶²	Polari A...Lavoie S	34507056	2021

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Genes for Diabetes Mellitus, Permanent Neonatal, 1

Genes related to Diabetes Mellitus, Permanent Neonatal, 1 (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GCK	Glucokinase	Protein Coding	1333.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	1502186 9049484 11372010 (more) 28247534 27188453 19884385
2	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	775	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵	22498247 21109997
3	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	775	Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁵	15561897 16268330 16609879 (more) 16636122 16885550 16731833 17021801 17296510 17490422 18436707 17635943 18767144 17673911 12213829 9831713 10049691 32418263 11395395 12524280 15562009 17446535 18250167 20685672 21422196 21812132 22311976 23275527 23345197 27908292 22498247 17652641 22145471 23382304 24150202 24912436
4	INS	Insulin	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
5	INS-IGF2	INS-IGF2 Readthrough	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
6	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	400	Pathogenic ⁵
7	NARS2	Asparaginyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	350	Causative germline mutation ⁵⁸	35703918

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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

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Expression for Diabetes Mellitus, Permanent Neonatal, 1

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

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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	Integration of energy metabolism ⁶⁶ Show member pathways Acetylcholine regulates insulin secretion ⁶⁶ AMPK inhibits chREBP transcriptional activation activity ⁶⁶ ChREBP activates metabolic gene expression ⁶⁶ Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion ⁶⁶ Free fatty acids regulate insulin secretion ⁶⁶ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁶ Intracellular metabolism of fatty acids regulates insulin secretion ⁶⁶ PKA-mediated phosphorylation of key metabolic factors ⁶⁶ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁶ Regulation of insulin secretion ⁶⁶ Saturated fatty acid biosynthesis ²²	12.04	KCNJ11 INS ABCC8
2	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	11.98	KCNJ11 GCK ABCC8
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.59	PDX1 INS GCK
4	Regulation of beta-cell development ⁶⁶ Show member pathways Regulation of gene expression in beta cells ⁶⁶ Regulation of gene expression in early pancreatic precursor cells ⁶⁶ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁶ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁶	11.39	PDX1 INS GCK
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.2	KCNJ11 ABCC8
6	Development_Leptin signaling via PI3K-dependent pathway ²²	11.15	KCNJ11 ABCC8
7	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	10.99	PDX1 KCNJ11 INS GCK ABCC8
8	Type II diabetes mellitus ⁷⁴	10.67	PDX1 KCNJ11 INS-IGF2
9	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	10.47	PDX1 KCNJ11 INS GCK ABCC8

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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

Sources for Diabetes Mellitus, Permanent Neonatal, 1

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² CDC

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³¹ ICD10

³² ICD10 via Orphanet

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³⁷ LncRNADisease

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⁵¹ NIH Clinical Center

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⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶¹ PubChem

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Diabetes Mellitus, Permanent Neonatal, 1 (PNDM1)

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, 1

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

Characteristics:

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Summaries for Diabetes Mellitus, Permanent Neonatal, 1

Related Diseases for Diabetes Mellitus, Permanent Neonatal, 1

Diseases in the Permanent Neonatal Diabetes Mellitus family:

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

Graphical network of the top 20 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:

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Genes related to Diabetes Mellitus, Permanent Neonatal, 1 (7 elite genes):

Variations for Diabetes Mellitus, Permanent Neonatal, 1

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

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

Expression 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:

GO Terms for Diabetes Mellitus, Permanent Neonatal, 1

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

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

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

Sources for Diabetes Mellitus, Permanent Neonatal, 1