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

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Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

MalaCards integrated aliases for Permanent Neonatal Diabetes Mellitus:

Name: Permanent Neonatal Diabetes Mellitus ¹¹ ²⁴ ¹⁹ ⁴² ²⁸ ⁵ ¹⁴

Pndm ¹¹ ¹⁹ ⁴²

Permanent Diabetes Mellitus of Infancy ¹¹ ¹⁹

Neonatal Diabetes Mellitus, Permanent ⁷⁵

Pdmi ¹¹

Characteristics:

GeneReviews:

²⁴

Penetrance Reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007].

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060639

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Summaries for Permanent Neonatal Diabetes Mellitus

MedlinePlus Genetics: ⁴² 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.Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.

MalaCards based summary: Permanent Neonatal Diabetes Mellitus, also known as pndm, is related to diabetes mellitus, permanent neonatal, 1 and isolated permanent neonatal diabetes mellitus, and has symptoms including muscle weakness and seizures. An important gene associated with Permanent Neonatal Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Nervous system development and Glucose / Energy Metabolism. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and heart, and related phenotypes are shRNA abundance <= 50% and homeostasis/metabolism

GARD: ¹⁹ 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 genetic changes 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.

Disease Ontology: ¹¹ A neonatal diabetes 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.

Wikipedia: ⁷⁵ Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of... more...

GeneReviews: NBK1447

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Related Diseases for Permanent Neonatal Diabetes Mellitus

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 Permanent Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, permanent neonatal, 1	33.1	PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
2	isolated permanent neonatal diabetes mellitus	32.9	PDX1 KCNJ11 INS GCK ABCC8
3	diabetes mellitus, permanent neonatal, 4	32.8	INS-IGF2 INS
4	diabetes mellitus, neonatal, with congenital hypothyroidism	32.4	RFX6 IER3IP1 GLIS3
5	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	32.1	WFS1 SLC19A2 RFX6 PTF1A NEUROD1 KCNJ11
6	neonatal diabetes	31.1	WFS1 SLC2A2 RFX6 PTF1A PDX1 NEUROG3
7	hypoglycemia	30.9	SLC2A2 KCNJ5 KCNJ11 INS GCK ABCC8
8	type 1 diabetes mellitus	30.8	WFS1 PDX1 NEUROD1 INS GCK
9	hyperglycemia	30.8	SLC2A2 PDX1 NEUROG3 KCNJ11 INS GCK
10	monogenic diabetes	30.7	KCNJ11 INS-IGF2 INS GCK ABCC8
11	gestational diabetes	30.6	PDX1 NEUROD1 KCNJ11 INS GCK ABCC8
12	wolfram syndrome 1	30.5	WFS1 KCNJ11 INS ABCC8
13	pancreas, annular	30.5	RFX6 PTF1A
14	maturity-onset diabetes of the young, type 13	30.4	RFX6 PDX1 NEUROD1 KCNJ11 GCK ABCC8
15	glucose intolerance	30.4	NEUROG3 NEUROD1 KCNJ11 INS GCK ABCC8
16	maturity-onset diabetes of the young, type 4	30.3	SLC2A2 RFX6 PDX1 NEUROG3 NEUROD1 KCNJ11
17	maturity-onset diabetes of the young, type 2	30.3	WFS1 SLC2A2 RFX6 PDX1 NEUROD1 KCNJ11
18	diabetes mellitus	30.2	WFS1 SLC2A2 SLC19A2 RFX6 PTF1A PDX1
19	transient neonatal diabetes mellitus	30.0	SLC2A2 SLC19A2 RFX6 PTF1A PDX1 NEUROG3
20	pancreatic agenesis	29.7	SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
21	maturity-onset diabetes of the young	29.5	WFS1 SLC2A2 SLC19A2 RFX6 PTF1A PDX1
22	pancreatic and cerebellar agenesis	11.9
23	diabetes mellitus, permanent neonatal, 2	11.5
24	diabetes mellitus, permanent neonatal, 3	11.5
25	diabetes mellitus, ketosis-prone	10.4
26	type 1 diabetes mellitus 6	10.4	PDX1 INS
27	munchausen by proxy	10.4	KCNJ11 GCK ABCC8
28	fetal erythroblastosis	10.4	KCNJ11 INS ABCC8
29	hyperinsulinemic hypoglycemia, familial, 6	10.4	KCNJ11 GCK ABCC8
30	hyperproinsulinemia	10.4	INS-IGF2 INS
31	hyperinsulinemic hypoglycemia, familial, 3	10.4	GCK ABCC8
32	asphyxia neonatorum	10.4	KCNJ11 INS ABCC8
33	hyperinsulinemic hypoglycemia, familial, 2	10.4	KCNJ11 INS ABCC8
34	hypoglycemia, leucine-induced	10.3	KCNJ11 ABCC8
35	type 1 diabetes mellitus 11	10.3	PDX1 NEUROD1
36	factitious disorder	10.3	KCNJ11 INS GCK ABCC8
37	cardiomyopathy, dilated, 1o	10.3	SLC2A2 KCNJ11 ABCC8
38	fanconi-bickel syndrome	10.3	SLC2A2 INS ABCC8
39	type 1 diabetes mellitus 12	10.3	KCNJ11 INS
40	umbilical hernia	10.3	KCNJ11 HYMAI ABCC8
41	heart defects, congenital, and other congenital anomalies	10.3	PTF1A PDX1 GATA6
42	hypokalemic periodic paralysis, type 1	10.3	KCNJ5 KCNJ11 INS
43	diarrhea 4, malabsorptive, congenital	10.3	RFX6 NEUROG3
44	maturity-onset diabetes of the young, type 14	10.3	NEUROD1 KCNJ11 GCK ABCC8
45	fructosuria, essential	10.3	SLC2A2 GCK
46	hypertrichosis	10.3	KCNJ11 INS ABCC8
47	neurogenic bladder	10.3	WFS1 MNX1 INS
48	patent ductus arteriosus 1	10.3	KCNJ11 INS GATA6 ABCC8
49	type 1 diabetes mellitus 8	10.3	SLC2A2 INS
50	hyperinsulinism	10.3	KCNJ5 KCNJ11 INS GCK ABCC8

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

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Symptoms & Phenotypes for Permanent Neonatal Diabetes Mellitus

UMLS symptoms related to Permanent Neonatal Diabetes Mellitus:

muscle weakness; seizures

GenomeRNAi Phenotypes related to Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	shRNA abundance <= 50%	GR00343-S	9.28	EIF2AK3 GCK KCNJ11 KCNJ5 NEUROD1 PDX1

MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.3	ABCC8 EIF2AK3 GATA6 GCK GLIS3 IER3IP1
2	growth/size/body region	MP:0005378	10.2	ABCC8 EIF2AK3 GATA6 GCK GLIS3 INS
3	endocrine/exocrine gland	MP:0005379	10.13	ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
4	no phenotypic analysis	MP:0003012	10.01	ABCC8 EIF2AK3 GLIS3 INS KCNJ11 NEUROG3
5	digestive/alimentary	MP:0005381	9.85	EIF2AK3 INS MNX1 NEUROD1 NEUROG3 PDX1
6	cellular	MP:0005384	9.77	EIF2AK3 GATA6 GCK GLIS3 INS MNX1
7	mortality/aging	MP:0010768	9.53	EIF2AK3 GATA6 GCK GLIS3 IER3IP1 INS

Sources

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Glyburide

Approved

Phase 4

10238-21-8

3488

2

Glucagon

Approved

Phase 4

16941-32-5

16133228 16186314

3

Insulin, Globin Zinc

Phase 4

4

Insulin

Phase 4

5

Glucagon-Like Peptide 1

Phase 4

6

Hypoglycemic Agents

Phase 4

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to ABCC8 (SUR1) Mutations	Unknown status	NCT02624830	Phase 4	Sulfonylurea
2	Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to KCNJ11 (KIR6.2) Mutations	Completed	NCT02624817	Phase 4	Sulfonylurea

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

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Genetic Tests for Permanent Neonatal Diabetes Mellitus

Genetic tests related to Permanent Neonatal Diabetes Mellitus:

#	Genetic test	Affiliating Genes
1	Permanent Neonatal Diabetes Mellitus ²⁸	ABCC8 GCK INS KCNJ11 PDX1

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Anatomical Context for Permanent Neonatal Diabetes Mellitus

Organs/tissues related to Permanent Neonatal Diabetes Mellitus:

MalaCards : Pancreas, Pancreatic Islet, Heart, Brain, Eye, Kidney

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Publications for Permanent Neonatal Diabetes Mellitus

Articles related to Permanent Neonatal Diabetes Mellitus:

(show top 50) (show all 449)

#	Title	Authors	PMID	Year
1	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. ²⁴ ⁵	Flanagan SE...Ellard S	18767144	2009
2	Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. ²⁴ ⁵	Flanagan SE...Hattersley AT	17446535	2007
3	Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. ²⁴ ⁵	Girard CA...Ashcroft FM	17021801	2006
4	Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. ²⁴ ⁵	Pearson ER...Neonatal Diabetes International Collaborative Group	16885550	2006
5	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. ²⁴ ⁵	Flanagan SE...Hattersley AT	16609879	2006
6	Molecular basis of neonatal diabetes in Japanese patients. ⁶² ⁵	Suzuki S...Fujieda K	17635943	2007
7	The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. ⁶² ⁵	Rica I...Castano L	17490422	2007
8	Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. ⁶² ⁵	Flechtner I...Polak M	17296510	2006
9	Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. ⁶² ⁵	Shimomura K...Ashcroft FM	16731833	2006
10	Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype. ⁵	Garcin L...Beltrand J	32418263	2020
11	Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. ⁵	Martinez R...Castano L	28247534	2017
12	Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ⁵	Salomon-Estebanez M...Banerjee I	27908292	2016
13	Clinical and genetic characterization of congenital hyperinsulinism in Spain. ⁵	Martinez R...Spanish Congenital Hyperinsulinism Group	27188453	2016
14	Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. ⁵	Kapoor RR...Hussain K	23345197	2013
15	Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. ⁵	Snider KE...Ganguly A	23275527	2013
16	Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. ⁶² ²⁴	Shaw-Smith C...Ellard S	22369132	2012
17	Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. ⁵	Wang F...Shyng SL	22311976	2012
18	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
19	Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. ⁵	Park SE...Yang SW	21422196	2011
20	ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. ⁵	Bellanne-Chantelot C...de Lonlay P	20685672	2010
21	Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. ⁶² ²⁴	Wiedemann B...Hofer S	19496964	2010
22	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
23	Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. ⁶² ²⁴	Rubio-Cabezas O...Ellard S	19837917	2009
24	Diagnosis and treatment of neonatal diabetes: a United States experience. ⁶² ²⁴	Stoy J...United States Neonatal Diabetes Working Group	18662362	2008
25	Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. ⁶² ²⁴	Turkkahraman D...Gloyn AL	18571549	2008
26	Neonatal diabetes mellitus. ⁵	Aguilar-Bryan L...Bryan J	18436707	2008
27	Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. ⁵	Lin YW...Shyng SL	18250167	2008
28	Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. ⁶² ²⁴	Patch AM...Ellard S	17919176	2007
29	Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. ⁵	Haider S...Ashcroft FM	17673911	2007
30	Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. ⁶² ²⁴	Ellard S...Ashcroft FM	17668386	2007
31	A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). ⁶² ²⁴	Masia R...Nichols CG	17317760	2007
32	Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. ⁶² ²⁴	Stanik J...Klimes I	17213273	2007
33	Neonatal diabetes mellitus: a disease linked to multiple mechanisms. ⁶² ²⁴	Polak M...Cave H	17349054	2007
34	An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. ⁶² ²⁴	Masia R...Barbetti F	17259376	2007
35	Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. ⁵	Slingerland AS...Hattersley AT	16636122	2006
36	Molecular genetics goes to the diabetes clinic. ⁵	Hattersley AT	16268330	2005
37	Relapsing diabetes can result from moderately activating mutations in KCNJ11. ⁶² ²⁴	Gloyn AL...Hattersley AT	15718250	2005
38	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
39	KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. ⁶² ²⁴	Massa O...Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology	15580558	2005
40	Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. ⁶² ²⁴	Proks P...Ashcroft FM	15583126	2004
41	Mutations in PTF1A cause pancreatic and cerebellar agenesis. ⁶² ²⁴	Sellick GS...Houlston RS	15543146	2004
42	Toward linking structure with function in ATP-sensitive K+ channels. ⁵	Bryan J...Aguilar-Bryan L	15561897	2004
43	Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. ⁶² ²⁴	Yorifuji T...Nakahata T	15181075	2004
44	Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. ⁶² ²⁴	Schwitzgebel VM...Philippe J	12970316	2003
45	Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. ⁵	Ribalet B...Weiss JN	12524280	2003
46	SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions. ⁵	Babenko AP...Bryan J	12213829	2002
47	Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. ⁶² ²⁴	Metz C...NDM French Study Group. Neonatal diabetes mellitus	12378186	2002
48	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
49	The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels. ⁵	Babenko AP...Bryan J	10049691	1999
50	Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP. ⁵	Proks P...Ashcroft FM	9831713	1999

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Genes for Permanent Neonatal Diabetes Mellitus

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

(show all 41)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	562.75	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	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
2	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	551.46	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
3	GCK	Glucokinase	Protein Coding	550.11	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	28247534 27188453 19884385
4	INS	Insulin	Protein Coding	550.09	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	514.59	Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	INS-IGF2	INS-IGF2 Readthrough	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
7	EIF2AK3	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3	Protein Coding	14.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	SLC19A2	Solute Carrier Family 19 Member 2	Protein Coding	14.2	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	7.81	DISEASES inferred ¹⁴
10	RFX6	Regulatory Factor X6	Protein Coding	7.7	DISEASES inferred ¹⁴
11	GLIS3	GLIS Family Zinc Finger 3	Protein Coding	7.58	DISEASES inferred ¹⁴
12	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
13	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	7.14	DISEASES inferred ¹⁴
14	NEUROD1	Neuronal Differentiation 1	Protein Coding	7.06	DISEASES inferred ¹⁴
15	HYMAI	Hydatidiform Mole Associated And Imprinted	RNA Gene	7.02	DISEASES inferred ¹⁴
16	NEUROG3	Neurogenin 3	Protein Coding	6.85	DISEASES inferred ¹⁴
17	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	6.75	DISEASES inferred ¹⁴
18	GATA6	GATA Binding Protein 6	Protein Coding	6.58	DISEASES inferred ¹⁴
19	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	6.51	DISEASES inferred ¹⁴
20	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	6.31	DISEASES inferred ¹⁴
21	ZFP57	ZFP57 Zinc Finger Protein	Protein Coding	6.3	DISEASES inferred ¹⁴
22	GCKR	Glucokinase Regulator	Protein Coding	6.25	DISEASES inferred ¹⁴
23	NKX2-2	NK2 Homeobox 2	Protein Coding	6.18	DISEASES inferred ¹⁴
24	NKX6-1	NK6 Homeobox 1	Protein Coding	6.1	DISEASES inferred ¹⁴
25	PLAGL1	PLAG1 Like Zinc Finger 1	Protein Coding	5.88	DISEASES inferred ¹⁴
26	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	5.84	DISEASES inferred ¹⁴
27	HNF1B	HNF1 Homeobox B	Protein Coding	5.8	DISEASES inferred ¹⁴
28	PAX4	Paired Box 4	Protein Coding	5.74	DISEASES inferred ¹⁴
29	NKX6-2	NK6 Homeobox 2	Protein Coding	5.7	DISEASES inferred ¹⁴
30	HNF1A	HNF1 Homeobox A	Protein Coding	5.61	DISEASES inferred ¹⁴
31	GATA4	GATA Binding Protein 4	Protein Coding	5.56	DISEASES inferred ¹⁴
32	FOXP3	Forkhead Box P3	Protein Coding	5.51	DISEASES inferred ¹⁴
33	KLF11	KLF Transcription Factor 11	Protein Coding	5.46	DISEASES inferred ¹⁴
34	GCG	Glucagon	Protein Coding	5.32	DISEASES inferred ¹⁴
35	YIPF5	Yip1 Domain Family Member 5	Protein Coding	5.27	DISEASES inferred ¹⁴
36	FOXA2	Forkhead Box A2	Protein Coding	5.26	DISEASES inferred ¹⁴
37	PTPRN	Protein Tyrosine Phosphatase Receptor Type N	Protein Coding	5.23	DISEASES inferred ¹⁴
38	PAX6	Paired Box 6	Protein Coding	5.21	DISEASES inferred ¹⁴
39	G6PC2	Glucose-6-Phosphatase Catalytic Subunit 2	Protein Coding	5.15	DISEASES inferred ¹⁴
40	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	5.09	DISEASES inferred ¹⁴
41	LOC105371712	Uncharacterized LOC105371712	RNA Gene	5.06	DISEASES inferred ¹⁴

Sources

Variations for Permanent Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

⁵ (show top 50) (show all 355)

#	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	INS-IGF2, INS	NM_000207.3(INS):c.188-31G>A	SNV	Pathogenic	211186	rs797045623	GRCh37: 11:2181258-2181258 GRCh38: 11:2160028-2160028
3	ABCC8	NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)	SNV	Pathogenic	434047	rs1554909277	GRCh37: 11:17424265-17424265 GRCh38: 11:17402718-17402718
4	ABCC8	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	SNV	Pathogenic	188915	rs72559722	GRCh37: 11:17434263-17434263 GRCh38: 11:17412716-17412716
5	ABCC8	NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	SNV	Pathogenic	9105	rs137852673	GRCh37: 11:17417462-17417462 GRCh38: 11:17395915-17395915
6	GCK	NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	SNV	Pathogenic	265175	rs769268803	GRCh37: 7:44187346-44187346 GRCh38: 7:44147747-44147747
7	INS-IGF2, INS	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	SNV	Pathogenic	21117	rs80356669	GRCh37: 11:2181150-2181150 GRCh38: 11:2159920-2159920
8	KCNJ11	NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)	SNV	Pathogenic	36431	rs80356611	GRCh37: 11:17409490-17409490 GRCh38: 11:17387943-17387943
9	ABCC8	NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	SNV	Pathogenic	495834	rs72559734	GRCh37: 11:17496502-17496502 GRCh38: 11:17474955-17474955
10	PDX1	NM_000209.4(PDX1):c.188del (p.Pro63fs)	DEL	Pathogenic	21124	rs193929377	GRCh37: 13:28494458-28494458 GRCh38: 13:27920321-27920321
11	GCK	NM_000162.5(GCK):c.676G>A (p.Val226Met)	SNV	Pathogenic	36243	rs148311934	GRCh37: 7:44189362-44189362 GRCh38: 7:44149763-44149763
12	GCK	NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	SNV	Pathogenic	435306	rs1360415315	GRCh37: 7:44189371-44189371 GRCh38: 7:44149772-44149772
13	GCK	NM_000162.5(GCK):c.544G>A (p.Val182Met)	SNV	Pathogenic	129144	rs587780345	GRCh37: 7:44189603-44189603 GRCh38: 7:44150004-44150004
14	GCK	NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)	SNV	Likely Pathogenic	521398	rs758737171	GRCh37: 7:44184809-44184809 GRCh38: 7:44145210-44145210
15	KCNJ11	NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)	DEL	Likely Pathogenic	947372	rs1953591118	GRCh37: 11:17409481-17409487 GRCh38: 11:17387934-17387940
16	KCNJ11	NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)	DUP	Likely Pathogenic	1065989		GRCh37: 11:17409233-17409234 GRCh38: 11:17387686-17387687
17	ABCC8	NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)	SNV	Likely Pathogenic	434057	rs1554904936	GRCh37: 11:17417199-17417199 GRCh38: 11:17395652-17395652
18	ABCC8	NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)	SNV	Likely Pathogenic	35623	rs193922408	GRCh37: 11:17414669-17414669 GRCh38: 11:17393122-17393122
19	KCNJ11	NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	SNV	Likely Pathogenic	8686	rs267607196	GRCh37: 11:17408795-17408795 GRCh38: 11:17387248-17387248
20	ABCC8	NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	SNV	Likely Pathogenic	434045	rs72559715	GRCh37: 11:17415926-17415926 GRCh38: 11:17394379-17394379
21	ABCC8	NM_000352.6(ABCC8):c.290+2T>C	SNV	Likely Pathogenic	552247	rs1554948310	GRCh37: 11:17496431-17496431 GRCh38: 11:17474884-17474884
22	KCNJ11	NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)	DUP	Likely Pathogenic	555247	rs1337406718	GRCh37: 11:17408574-17408575 GRCh38: 11:17387027-17387028
23	KCNJ11	NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	DUP	Likely Pathogenic	555590	rs1554901718	GRCh37: 11:17408920-17408921 GRCh38: 11:17387373-17387374
24	KCNJ11	NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)	SNV	Likely Pathogenic	8683	rs74339576	GRCh37: 11:17408737-17408737 GRCh38: 11:17387190-17387190
25	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
26	KCNJ11	NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)	SNV	Likely Pathogenic	586105	rs1564865232	GRCh37: 11:17408865-17408865 GRCh38: 11:17387318-17387318
27	KCNJ11	NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)	SNV	Likely Pathogenic	551187	rs1371185696	GRCh37: 11:17409079-17409079 GRCh38: 11:17387532-17387532
28	KCNJ11	NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	SNV	Likely Pathogenic	1219242		GRCh37: 11:17409538-17409538 GRCh38: 11:17387991-17387991
29	KCNJ11	NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)	SNV	Likely Pathogenic	557416	rs954727530	GRCh37: 11:17409539-17409539 GRCh38: 11:17387992-17387992
30	KCNJ11	NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)	DUP	Likely Pathogenic	553023	rs1554901690	GRCh37: 11:17408867-17408868 GRCh38: 11:17387320-17387321
31	KCNJ11	NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)	MICROSAT	Likely Pathogenic	556063	rs1554901829	GRCh37: 11:17409273-17409276 GRCh38: 11:17387726-17387729
32	KCNJ11	NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)	SNV	Likely Pathogenic	557258	rs587783669	GRCh37: 11:17409141-17409141 GRCh38: 11:17387594-17387594
33	KCNJ11	NM_000525.4(KCNJ11):c.290dup (p.His97fs)	DUP	Likely Pathogenic	557649	rs1554901854	GRCh37: 11:17409348-17409349 GRCh38: 11:17387801-17387802
34	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
35	ABCC8	NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	SNV	Likely Pathogenic	35617	rs193922402	GRCh37: 11:17417158-17417158 GRCh38: 11:17395611-17395611
36	GCK	NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	SNV	Likely Pathogenic	36200	rs193922283	GRCh37: 7:44184775-44184775 GRCh38: 7:44145176-44145176
37	GCK	NM_000162.5(GCK):c.666C>T (p.Val222=)	SNV	Uncertain Significance	36242	rs193922318	GRCh37: 7:44189372-44189372 GRCh38: 7:44149773-44149773
38	KCNJ11	NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)	SNV	Uncertain Significance	729862	rs374134161	GRCh37: 11:17409612-17409612 GRCh38: 11:17388065-17388065
39	KCNJ11	NM_000525.4(KCNJ11):c.-6G>A	SNV	Uncertain Significance	989949	rs554874150	GRCh37: 11:17409644-17409644 GRCh38: 11:17388097-17388097
40	ABCC8	NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)	SNV	Uncertain Significance	877186	rs201724038	GRCh37: 11:17448655-17448655 GRCh38: 11:17427108-17427108
41	ABCC8	NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)	SNV	Uncertain Significance	877309	rs370169777	GRCh37: 11:17470126-17470126 GRCh38: 11:17448579-17448579
42	ABCC8	NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)	SNV	Uncertain Significance	878288	rs763794263	GRCh37: 11:17453779-17453779 GRCh38: 11:17432232-17432232
43	ABCC8	NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)	SNV	Uncertain Significance	879471	rs774965446	GRCh37: 11:17418746-17418746 GRCh38: 11:17397199-17397199
44	ABCC8	NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)	SNV	Uncertain Significance	880150	rs778892038	GRCh37: 11:17483165-17483165 GRCh38: 11:17461618-17461618
45	GCK	NM_000162.5(GCK):c.1120G>T (p.Val374Leu)	SNV	Uncertain Significance	908614	rs1415041911	GRCh37: 7:44185229-44185229 GRCh38: 7:44145630-44145630
46	GCK	NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)	SNV	Uncertain Significance	908615	rs1000236360	GRCh37: 7:44185325-44185325 GRCh38: 7:44145726-44145726
47	GCK	NM_000162.5(GCK):c.580-11C>T	SNV	Uncertain Significance	908684	rs370016334	GRCh37: 7:44189469-44189469 GRCh38: 7:44149870-44149870
48	GCK	NM_000162.5(GCK):c.-102G>C	SNV	Uncertain Significance	908804	rs781377703	GRCh37: 7:44228654-44228654 GRCh38: 7:44189055-44189055
49	GCK	NM_000162.5(GCK):c.-449G>A	SNV	Uncertain Significance	908863	rs1375544246	GRCh37: 7:44229001-44229001 GRCh38: 7:44189402-44189402
50	GCK	NM_000162.5(GCK):c.792C>A (p.Gly264=)	SNV	Uncertain Significance	909471	rs754094813	GRCh37: 7:44187320-44187320 GRCh38: 7:44147721-44147721

Sources

Expression for Permanent Neonatal Diabetes Mellitus

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

Sources

Pathways for Permanent Neonatal Diabetes Mellitus

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

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.5	SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
2	Glucose / Energy Metabolism ³	12.3	WFS1 PDX1 NEUROD1 INS
3	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	12.26	SLC2A2 KCNJ11 INS ABCC8
4	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.22	SLC2A2 KCNJ11 GCK ABCC8
5	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.86	GCK INS NEUROD1 PDX1 SLC2A2
6	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.86	SLC2A2 PTF1A PDX1 NEUROG3 NEUROD1 INS
7	Inwardly rectifying K+ channels ⁶⁶ Show member pathways Activation of G protein gated Potassium channels ⁶⁶ ATP sensitive Potassium channels ⁶⁶ Defective ABCC8 can cause hypo- and hyper-glycemias ⁶⁶ Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome ⁶⁶ G protein gated Potassium channels ⁶⁶ Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits ⁶⁶ Potassium transport channels ⁶⁶	11.85	KCNJ5 KCNJ11 ABCC8
8	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	11.51	SLC2A2 RFX6 PTF1A PDX1 NEUROG3 NEUROD1
9	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.35	KCNJ5 KCNJ11 ABCC8
10	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	11.27	SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
11	Notch-mediated HES/HEY network ⁶¹	11.23	PTF1A NEUROG3 GATA6
12	Type II diabetes mellitus ⁷⁴	10.97	SLC2A2 PDX1 KCNJ11 INS-IGF2
13	Cori cycle ⁷⁴	10.75	SLC2A2 INS
14	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	10.61	SLC2A2 PDX1 NEUROD1 KCNJ11 INS GCK
15	PTF1A related regulatory pathway ⁷⁴	10.5	PTF1A PDX1

Sources

GO Terms for Permanent Neonatal Diabetes Mellitus

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of DNA-templated transcription	GO:0006355	10.25	GATA6 INS MNX1 NEUROD1 NEUROG3 PDX1
2	response to xenobiotic stimulus	GO:0009410	10.19	PDX1 NEUROD1 KCNJ11 GATA6 ABCC8
3	glucose metabolic process	GO:0006006	10.03	PDX1 KCNJ11 INS GCK
4	regulation of insulin secretion	GO:0050796	10.01	RFX6 NEUROD1 KCNJ11 GCK
5	potassium ion import across plasma membrane	GO:1990573	10	KCNJ5 KCNJ11 ABCC8
6	positive regulation of cell differentiation	GO:0045597	9.97	NEUROG3 NEUROD1 INS
7	glucose homeostasis	GO:0042593	9.93	WFS1 RFX6 PDX1 NEUROD1 INS GCK
8	ER overload response	GO:0006983	9.9	WFS1 EIF2AK3
9	cell fate commitment	GO:0045165	9.89	PTF1A NEUROD1 GATA6
10	amacrine cell differentiation	GO:0035881	9.88	PTF1A NEUROD1
11	exocrine pancreas development	GO:0031017	9.87	PTF1A PDX1
12	pancreatic A cell differentiation	GO:0003310	9.86	RFX6 GATA6
13	type B pancreatic cell differentiation	GO:0003309	9.85	RFX6 PDX1 GATA6
14	transdifferentiation	GO:0060290	9.84	PDX1 NEUROG3
15	negative regulation of type B pancreatic cell apoptotic process	GO:2000675	9.8	WFS1 PDX1 NEUROD1
16	detection of glucose	GO:0051594	9.78	PDX1 GCK
17	hindbrain development	GO:0030902	9.76	NEUROD1 NEUROG3 PTF1A
18	pancreas development	GO:0031016	9.73	GATA6 PDX1 PTF1A WFS1
19	enteroendocrine cell differentiation	GO:0035883	9.69	PDX1 NEUROD1
20	positive regulation of insulin secretion involved in cellular response to glucose stimulus	GO:0035774	9.5	SLC2A2 RFX6 PDX1 KCNJ11 ABCC8
21	endocrine pancreas development	GO:0031018	9.36	RFX6 PDX1 NEUROG3 NEUROD1 MNX1 EIF2AK3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.06	RFX6 PTF1A PDX1 NEUROG3 NEUROD1 MNX1
2	sequence-specific DNA binding	GO:0043565	9.43	PTF1A PDX1 NEUROD1 GLIS3 GATA6
3	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.92	KCNJ11 ABCC8

Sources

Sources for Permanent Neonatal Diabetes Mellitus

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

PDMI MCID: PRM030 MIFTS: 51	Permanent Neonatal Diabetes Mellitus (PDMI) Categories: Endocrine diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Permanent Neonatal Diabetes Mellitus (PDMI)

Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

MalaCards integrated aliases for Permanent Neonatal Diabetes Mellitus:

Characteristics:

GeneReviews:

Classifications:

External Ids:

Summaries for Permanent Neonatal Diabetes Mellitus

Related Diseases for Permanent Neonatal Diabetes Mellitus

Diseases in the Permanent Neonatal Diabetes Mellitus family:

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

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

Symptoms & Phenotypes for Permanent Neonatal Diabetes Mellitus

UMLS symptoms related to Permanent Neonatal Diabetes Mellitus:

GenomeRNAi Phenotypes related to Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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

Interventional clinical trials:

Genetic Tests for Permanent Neonatal Diabetes Mellitus

Genetic tests related to Permanent Neonatal Diabetes Mellitus:

Anatomical Context for Permanent Neonatal Diabetes Mellitus

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Publications for Permanent Neonatal Diabetes Mellitus

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Genes for Permanent Neonatal Diabetes Mellitus

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

Variations for Permanent Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Permanent Neonatal Diabetes Mellitus:

Expression for Permanent Neonatal Diabetes Mellitus

Pathways for Permanent Neonatal Diabetes Mellitus

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

GO Terms for Permanent Neonatal Diabetes Mellitus

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

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

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

Sources for Permanent Neonatal Diabetes Mellitus