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

PNDM1 MCID: DBT104 MIFTS: 45	Diabetes Mellitus, Permanent Neonatal, 1 (PNDM1) Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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

Diabetes Mellitus, Permanent Neonatal 1 ⁵⁷ ⁷³

Permanent Diabetes Mellitus of Infancy ⁷³ ⁶

Permanent Neonatal Diabetes Mellitus 1 ²⁹ ⁶

Dend Syndrome ⁵⁸ ⁶

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, of Infancy; Pdmi ⁵⁷

Diabetes Mellitus, Permanent Neonatal, Type 1 ³⁹

Diabetes Mellitus, Permanent, of Infancy ⁵⁷

Dend ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset as newborn

HPO:

³¹

diabetes mellitus, permanent neonatal, 1:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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

External Ids:

OMIM® ⁵⁷ 606176

OMIM Phenotypic Series ⁵⁷ PS606176

MeSH ⁴⁴ D003920

ICD10 via Orphanet ³³ P70.2

UMLS via Orphanet ⁷² C1853564

Orphanet ⁵⁸ ORPHA79134

MedGen ⁴¹ C1833102 C1833104 C1853564 more

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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 05-Mar-2021)

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, 1, also known as diabetes mellitus, permanent neonatal 1, is related to diabetes mellitus, permanent neonatal, 4 and permanent neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 1 is GCK (Glucokinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Integration of energy metabolism. Related phenotypes are hyperglycemia and elevated hemoglobin a1c

UniProtKB/Swiss-Prot : ⁷³ Diabetes mellitus, permanent neonatal 1: 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.

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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 74)

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, permanent neonatal, 4	31.0	INS-IGF2 INS
2	permanent neonatal diabetes mellitus	29.6	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
3	neonatal diabetes	29.1	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
4	hypoglycemia	29.0	KCNJ11 INS GCK ABCC8
5	transient neonatal diabetes mellitus	28.9	PDX1 KCNJ11 INS GCK ABCC8
6	hyperglycemia	28.6	PDX1 KCNJ11 INS GCK ABCC8
7	monogenic diabetes	28.4	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
8	diabetes mellitus	28.1	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
9	intermediate dend syndrome	11.1
10	diabetes mellitus, transient neonatal, 1	10.9
11	diabetes mellitus, permanent neonatal, 2	10.9
12	diabetes mellitus, permanent neonatal, 3	10.9
13	epilepsy	10.3
14	diabetes mellitus, transient neonatal, 3	10.2
15	diabetic neuropathy	10.2
16	hypotonia	10.2
17	fructose-1,6-bisphosphatase deficiency	10.1	GCK ABCC8
18	maturity-onset diabetes of the young, type 14	10.0	PDX1 GCK
19	cardiomyopathy, dilated, 1o	10.0	KCNJ11 ABCC8
20	coronary artery vasospasm	10.0	KCNJ11 ABCC8
21	intestinal atresia	10.0	PDX1 GCK
22	cantu syndrome	10.0	KCNJ11 ABCC8
23	west syndrome	10.0
24	aspiration pneumonia	10.0
25	seizure disorder	10.0
26	neonatal dermatomyositis	10.0
27	hyperinsulinemic hypoglycemia, familial, 1	9.9	KCNJ11 ABCC8
28	umbilical hernia	9.9	KCNJ11 ABCC8
29	donohue syndrome	9.9	INS GCK
30	fanconi-bickel syndrome	9.8	INS ABCC8
31	munchausen by proxy	9.8	KCNJ11 GCK ABCC8
32	hyperinsulinemic hypoglycemia, familial, 7	9.8	KCNJ11 GCK ABCC8
33	hyperinsulinemic hypoglycemia, familial, 6	9.8	KCNJ11 GCK ABCC8
34	maturity-onset diabetes of the young, type 11	9.8	PDX1 KCNJ11 ABCC8
35	hyperproinsulinemia	9.8	INS-IGF2 INS
36	wolfram syndrome 1	9.8	KCNJ11 INS
37	wolfram syndrome	9.7	KCNJ11 INS
38	type 1 diabetes mellitus 2	9.7	INS-IGF2 INS
39	carbohydrate metabolic disorder	9.7	INS ABCC8
40	hypokalemic periodic paralysis, type 1	9.7	KCNJ11 INS
41	prediabetes syndrome	9.7	INS GCK
42	abdominal obesity-metabolic syndrome 1	9.6	INS GCK
43	acute insulin response	9.6	KCNJ11 INS ABCC8
44	asphyxia neonatorum	9.6	KCNJ11 INS ABCC8
45	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	9.6	KCNJ11 INS ABCC8
46	diabetes mellitus, ketosis-prone	9.6	KCNJ11 INS ABCC8
47	hyperinsulinemic hypoglycemia, familial, 2	9.6	KCNJ11 INS ABCC8
48	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	9.6	PDX1 KCNJ11 GCK ABCC8
49	maturity-onset diabetes of the young, type 13	9.6	PDX1 KCNJ11 GCK ABCC8
50	maturity-onset diabetes of the young, type 7	9.6	PDX1 KCNJ11 GCK 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 ³¹ (show all 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hyperglycemia ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0003074
2	elevated hemoglobin a1c ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0040217
3	muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001324
4	mild global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011342
5	muscular hypotonia of the trunk ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008936
6	seizure ³¹	frequent (33%)		HP:0001250
7	short nose ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003196
8	anteverted nares ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000463
9	dehydration ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001944
10	vomiting ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002013
11	downturned corners of mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002714
12	long philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000343
13	peripheral neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009830
14	prominent metopic ridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005487
15	hypsarrhythmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002521
16	thickened ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009894
17	bilateral ptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001488
18	clinodactyly of the 4th finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040025
19	type i diabetes mellitus ³¹	very rare (1%)		HP:0100651
20	intrauterine growth retardation ³¹	very rare (1%)		HP:0001511
21	small for gestational age ³¹	very rare (1%)		HP:0001518
22	seizures ⁵⁸		Frequent (79-30%)
23	autoimmune antibody positivity ⁵⁸		Excluded (0%)
24	reduced c-peptide level ³¹			HP:0030795

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 05-Mar-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.35	ABCC8 GCK INS KCNJ11 PDX1
2	no phenotypic analysis	MP:0003012	8.92	ABCC8 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 ²⁹	GCK

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Anatomical Context for Diabetes Mellitus, Permanent Neonatal, 1

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Publications for Diabetes Mellitus, Permanent Neonatal, 1

Articles related to Diabetes Mellitus, Permanent Neonatal, 1:

#	Title	Authors	PMID	Year
1	Neonatal diabetes mellitus due to complete glucokinase deficiency. ⁵⁷ ⁶	Njolstad PR...Bell GI	11372010	2001
2	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
3	Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. ⁵⁷	Njolstad PR...Matschinsky FM	14578306	2003
4	Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. ⁵⁷	Gloyn AL...Hattersley AT	11942315	2002
5	Neonatal diabetes: new insights into aetiology and implications. ⁵⁷	Shield JP	10895036	2000
6	Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. ⁶	Velho G...Froguel P	9049484	1997
7	Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. ⁶	Stoffel M...Lesage S	1502186	1992
8	KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. ⁶¹	Massa O...Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology	15580558	2005

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Genes for Diabetes Mellitus, Permanent Neonatal, 1

Genes related to Diabetes Mellitus, Permanent Neonatal, 1 (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GCK	Glucokinase	Protein Coding	1343.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
2	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶
3	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	775	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁶
4	INS-IGF2	INS-IGF2 Readthrough	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
5	INS	Insulin	Protein Coding	400	Pathogenic ⁶
6	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	400	Pathogenic ⁶

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Variations for Diabetes Mellitus, Permanent Neonatal, 1

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

⁶ (show top 50) (show all 351)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNJ11	NM_000525.3(KCNJ11):c.602G>A (p.Arg201His)	SNV	Pathogenic	8666	rs80356624	11:17409037-17409037	11:17387490-17387490
2	KCNJ11	NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys)	SNV	Pathogenic	8668	rs80356625	11:17409038-17409038	11:17387491-17387491
3	KCNJ11	NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro)	SNV	Pathogenic	8670	rs80356611	11:17409490-17409490	11:17387943-17387943
4	KCNJ11	NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg)	SNV	Pathogenic	8671	rs80356621	11:17409130-17409130	11:17387583-17387583
5	KCNJ11	NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn)	SNV	Pathogenic	8672	rs80356622	11:17409129-17409129	11:17387582-17387582
6	INS-IGF2	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	SNV	Pathogenic	13387	rs80356671	11:2181128-2181128	11:2159898-2159898
7	INS-IGF2	NM_000207.3(INS):c.71C>A (p.Ala24Asp)	SNV	Pathogenic	13388	rs80356663	11:2182131-2182131	11:2160901-2160901
8	INS-IGF2	NM_000207.3(INS):c.143T>G (p.Phe48Cys)	SNV	Pathogenic	13389	rs80356668	11:2182059-2182059	11:2160829-2160829
9	GCK	NM_000162.5(GCK):c.629T>A (p.Met210Lys)	SNV	Pathogenic	16141	rs80356654	7:44189409-44189409	7:44149810-44149810
10	GCK	NM_000162.5(GCK):c.1019+2T>G	SNV	Pathogenic	21075	rs193929376	7:44186060-44186060	7:44146461-44146461
11	GCK	NM_000162.5(GCK):c.1133C>T (p.Ala378Val)	SNV	Pathogenic	21076	rs193929374	7:44185216-44185216	7:44145617-44145617
12	GCK	NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)	SNV	Pathogenic	21077	rs193929375	7:44185159-44185159	7:44145560-44145560
13	GCK	NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	SNV	Pathogenic	21078	rs193929373	7:44187322-44187322	7:44147723-44147723
14	INS-IGF2	NM_000207.3(INS):c.127T>G (p.Cys43Gly)	SNV	Pathogenic	21114	rs80356666	11:2182075-2182075	11:2160845-2160845
15	INS-IGF2	NM_000207.3(INS):c.140G>T (p.Gly47Val)	SNV	Pathogenic	21115	rs80356667	11:2182062-2182062	11:2160832-2160832
16	INS-IGF2	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	SNV	Pathogenic	21117	rs80356669	11:2181150-2181150	11:2159920-2159920
17	INS-IGF2	NM_000207.3(INS):c.268G>T (p.Gly90Cys)	SNV	Pathogenic	21118	rs80356670	11:2181147-2181147	11:2159917-2159917
18	INS-IGF2	NM_000207.3(INS):c.323A>G (p.Tyr108Cys)	SNV	Pathogenic	21120	rs80356672	11:2181092-2181092	11:2159862-2159862
19	INS-IGF2	NM_000207.3(INS):c.94G>A (p.Gly32Ser)	SNV	Pathogenic	21122	rs80356664	11:2182108-2182108	11:2160878-2160878
20	INS-IGF2	NM_000207.3(INS):c.94G>C (p.Gly32Arg)	SNV	Pathogenic	21123	rs80356664	11:2182108-2182108	11:2160878-2160878
21	KCNJ11	NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp)	SNV	Pathogenic	21193	rs193929358	11:17408638-17408638	11:17387091-17387091
22	KCNJ11	NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu)	SNV	Pathogenic	21194	rs193929333	11:17409536-17409536	11:17387989-17387989
23	KCNJ11	NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val)	SNV	Pathogenic	21195	rs193929333	11:17409536-17409536	11:17387989-17387989
24	KCNJ11	NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg)	SNV	Pathogenic	8676	rs80356610	11:17409515-17409515	11:17387968-17387968
25	KCNJ11	NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg)	SNV	Pathogenic	21196	rs193929337	11:17409484-17409484	11:17387937-17387937
26	KCNJ11	NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp)	SNV	Pathogenic	8685	rs80356615	11:17409481-17409481	11:17387934-17387934
27	KCNJ11	NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly)	SNV	Pathogenic	8669	rs80356617	11:17409463-17409463	11:17387916-17387916
28	KCNJ11	NM_000525.3(KCNJ11):c.997T>A (p.Phe333Ile)	SNV	Pathogenic	21205	rs193929357	11:17408642-17408642	11:17387095-17387095
29	KCNJ11	NM_000525.3(KCNJ11):c.175G>A (p.Val59Met)	SNV	Pathogenic	8667	rs80356616	11:17409464-17409464	11:17387917-17387917
30	INS-IGF2	NM_000207.3(INS):c.*59A>G	SNV	Pathogenic	65581	rs397515519	11:2181023-2181023	11:2159793-2159793
31	INS-IGF2	NM_000207.3(INS):c.-39A>C	SNV	Pathogenic	431444	rs1554921033	11:2182419-2182419	11:2161189-2161189
32	INS	NM_000207.2(INS):c.-152C>A	SNV	Pathogenic	431442	rs748749585	11:2182532-2182532	11:2161302-2161302
33	INS	NM_000207.2(INS):c.-152C>G	SNV	Pathogenic	431443	rs748749585	11:2182532-2182532	11:2161302-2161302
34	INS	NM_000207.2(INS):c.-187_-164del	Deletion	Pathogenic	431441	rs1135401727	11:2182544-2182567	11:2161314-2161337
35	INS-IGF2	NM_000207.2(INS):c.(?_-191)_(187_?)+1del	Deletion	Pathogenic	431440		11:2182014-2182571	11:2160784-2161341
36	INS-IGF2	NM_000207.3(INS):c.3G>A (p.Met1Ile)	SNV	Pathogenic	65587	rs397515521	11:2182199-2182199	11:2160969-2160969
37	INS-IGF2	NM_000207.3(INS):c.3G>T (p.Met1Ile)	SNV	Pathogenic	65588	rs397515521	11:2182199-2182199	11:2160969-2160969
38	INS-IGF2	NM_000207.3(INS):c.188-31G>A	SNV	Pathogenic	211186	rs797045623	11:2181258-2181258	11:2160028-2160028
39	KCNJ11	NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys)	SNV	Pathogenic	21204	rs193929356	11:17408650-17408650	11:17387103-17387103
40	KCNJ11	NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys)	SNV	Pathogenic	21203	rs193929355	11:17408675-17408675	11:17387128-17387128
41	KCNJ11	NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val)	SNV	Pathogenic	21202	rs193929353	11:17408753-17408753	11:17387206-17387206
42	KCNJ11	NM_000525.3(KCNJ11):c.886A>C (p.Ile296Leu)	SNV	Pathogenic	21201	rs193929353	11:17408753-17408753	11:17387206-17387206
43	KCNJ11	NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala)	SNV	Pathogenic	21200	rs193929352	11:17408884-17408884	11:17387337-17387337
44	KCNJ11	NM_000525.3(KCNJ11):c.602G>T (p.Arg201Leu)	SNV	Pathogenic	21199	rs80356624	11:17409037-17409037	11:17387490-17387490
45	KCNJ11	NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)	SNV	Pathogenic	21198	rs193929348	11:17409095-17409095	11:17387548-17387548
46	KCNJ11	NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu)	SNV	Pathogenic	8680	rs80356620	11:17409140-17409140	11:17387593-17387593
47	KCNJ11	NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)	SNV	Pathogenic	8679	rs80356618	11:17409142-17409142	11:17387595-17387595
48	KCNJ11	NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr)	SNV	Pathogenic	21197	rs80356618	11:17409142-17409142	11:17387595-17387595
49	KCNJ11	NM_000525.3(KCNJ11):c.368dup (p.Ser124fs)	Duplication	Pathogenic	522957	rs1554901822	11:17409270-17409271	11:17387723-17387724
50	GCK	NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	SNV	Pathogenic	265175	rs769268803	7:44187346-44187346	7:44147747-44147747

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	rs148628002
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	rs128680419
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	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.32	PDX1 KCNJ11 INS GCK ABCC8
2	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	11.91	KCNJ11 INS ABCC8
3	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.59	PDX1 INS GCK
4	Inwardly rectifying K+ channels ⁶⁵ Show member pathways Activation of G protein gated Potassium channels ⁶⁵ ATP sensitive Potassium channels ⁶⁵ Defective ABCC8 can cause hypoglycemias and hyperglycemias ⁶⁵ G protein gated Potassium channels ⁶⁵ Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits ⁶⁵ Potassium transport channels ⁶⁵	11.52	KCNJ11 ABCC8
5	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.43	PDX1 INS GCK
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.18	KCNJ11 ABCC8
7	Development_Leptin signaling via PI3K-dependent pathway ²³	11.12	KCNJ11 ABCC8
8	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.08	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
9	FOXA2 and FOXA3 transcription factor networks ¹	11	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	sarcolemma	GO:0042383	8.96	KCNJ11 ABCC8
2	inward rectifying potassium channel	GO:0008282	8.62	KCNJ11 ABCC8

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to drug	GO:0042493	9.65	PDX1 KCNJ11 ABCC8
2	positive regulation of insulin secretion	GO:0032024	9.49	PDX1 GCK
3	negative regulation of insulin secretion	GO:0046676	9.46	KCNJ11 ABCC8
4	cellular glucose homeostasis	GO:0001678	9.43	GCK ABCC8
5	glucose homeostasis	GO:0042593	9.43	PDX1 INS GCK
6	negative regulation of gluconeogenesis	GO:0045721	9.4	INS GCK
7	inorganic cation transmembrane transport	GO:0098662	9.37	KCNJ11 ABCC8
8	regulation of insulin secretion	GO:0050796	9.33	KCNJ11 GCK ABCC8
9	positive regulation of glycogen biosynthetic process	GO:0045725	9.32	INS GCK
10	detection of glucose	GO:0051594	8.96	PDX1 GCK
11	glucose metabolic process	GO:0006006	8.92	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	hormone activity	GO:0005179	9.16	INS-IGF2 INS
2	cation-transporting ATPase activity	GO:0019829	8.96	KCNJ11 ABCC8
3	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.62	KCNJ11 ABCC8

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Sources for Diabetes Mellitus, Permanent Neonatal, 1

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Diabetes Mellitus, Permanent Neonatal, 1 (PNDM1)

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, 1

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Diseases in the Permanent Neonatal Diabetes Mellitus family:

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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