PNDM4
MCID: DBT103
MIFTS: 46

Diabetes Mellitus, Permanent Neonatal 4 (PNDM4)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal 4

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal 4:

Name: Diabetes Mellitus, Permanent Neonatal 4 56 6
Permanent Neonatal Diabetes Mellitus 12 24 52 25 15
Pndm 12 52 25
Permanent Diabetes Mellitus of Infancy 12 52
Diabetes Mellitus, Permanent Neonatal 56
Neonatal Diabetes Mellitus, Permanent 74
Pndm4 56
Pdmi 12

Characteristics:

GeneReviews:

24
Penetrance Reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007].

Classifications:



External Ids:

Disease Ontology 12 DOID:0060639
OMIM 56 618858

Summaries for Diabetes Mellitus, Permanent Neonatal 4

Genetics Home Reference : 25 Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. 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 : Diabetes Mellitus, Permanent Neonatal 4, also known as permanent neonatal diabetes mellitus, is related to epiphyseal dysplasia, multiple, with early-onset diabetes mellitus and diabetes mellitus, permanent neonatal 1. An important gene associated with Diabetes Mellitus, Permanent Neonatal 4 is INS (Insulin), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas, heart and brain, and related phenotypes are shRNA abundance <= 50% and endocrine/exocrine gland

NIH Rare Diseases : 52 Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia , dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy ; when these problems are present with PNDB, it is called DEND syndrome . A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11 , ABCC8 , and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).

OMIM : 56 Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by Polak et al., 2008). For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). (618858)

Wikipedia : 74 Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of... more...

GeneReviews: NBK1447

Related Diseases for Diabetes Mellitus, Permanent Neonatal 4

Diseases in the Diabetes Mellitus, Permanent Neonatal 1 family:

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

Diseases related to Diabetes Mellitus, Permanent Neonatal 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 32.4 PTF1A KCNJ11 INS GLIS3 EIF2AK3 ABCC8
2 diabetes mellitus, permanent neonatal 1 32.2 PDX1 KCNJ11 INS GCK ABCC8
3 pancreatic agenesis 31.0 RFX6 PTF1A PDX1 NEUROD1 KCNJ11 INS
4 diabetes mellitus, ketosis-prone 30.8 KCNJ11 INS ABCC8
5 pancreas, dorsal, agenesis of 30.5 PTF1A PDX1
6 gestational diabetes 30.1 KCNJ11 INS GCK ABCC8
7 hypoglycemia 30.1 SLC2A2 KCNJ11 INS GCK ABCC8
8 glucose intolerance 30.1 KCNJ11 INS GCK ABCC8
9 hyperglycemia 29.5 SLC2A2 PDX1 KCNJ11 INS GCKR GCK
10 diabetes mellitus, type i 29.3 SLC2A2 PDX1 NEUROD1 INS GCK
11 maturity-onset diabetes of the young, type 4 29.3 SLC2A2 PDX1 NEUROD1 KCNJ11 INS GCK
12 monogenic diabetes 29.0 SLC19A2 PDX1 KCNJ11 INS GCK GATA6
13 maturity-onset diabetes of the young, type 2 28.4 SLC2A2 PDX1 NEUROD1 KCNJ11 INS GCKR
14 diabetes mellitus, noninsulin-dependent 28.0 SLC2A2 PDX1 NEUROD1 KCNJ11 INS GCKR
15 transient neonatal diabetes mellitus 27.3 SLC2A2 SLC19A2 RFX6 PTF1A PDX1 NEUROD1
16 diabetes mellitus 27.2 SLC2A2 SLC19A2 PTF1A PDX1 NEUROD1 KCNJ11
17 maturity-onset diabetes of the young 27.1 SLC2A2 RFX6 PTF1A PDX1 NEUROD1 KCNJ11
18 neonatal diabetes mellitus 25.6 SLC2A2 SLC19A2 RFX6 PTF1A PDX1 NEUROD1
19 diabetes mellitus, permanent neonatal 3 12.7
20 diabetes mellitus, permanent neonatal 2 12.7
21 pancreatic and cerebellar agenesis 11.9
22 diabetes mellitus, insulin-dependent, 2 10.4 INS-IGF2 INS
23 segawa syndrome, autosomal recessive 10.3 INS-IGF2 INS
24 acute insulin response 10.3 KCNJ11 INS ABCC8
25 hyperproinsulinemia 10.3 INS-IGF2 INS
26 asphyxia neonatorum 10.3 KCNJ11 INS ABCC8
27 munchausen by proxy 10.3 KCNJ11 GCK ABCC8
28 type 1 diabetes mellitus 2 10.3 INS-IGF2 INS
29 hyperinsulinemic hypoglycemia, familial, 2 10.2 KCNJ11 INS ABCC8
30 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1
31 carbohydrate metabolic disorder 10.2 KCNJ11 INS ABCC8
32 maturity-onset diabetes of the young, type 14 10.2 PDX1 NEUROD1 GCK
33 intestinal atresia 10.1 RFX6 PDX1 GCK
34 autosomal recessive disease 10.1
35 exocrine pancreatic insufficiency 10.1
36 hypothyroidism 10.1
37 hyperinsulinism 10.1 KCNJ11 INS GCK ABCC8
38 hyperinsulinemic hypoglycemia, familial, 7 10.1 RFX6 KCNJ11 GCK ABCC8
39 hyperinsulinemic hypoglycemia, familial, 6 10.1 GCK ABCC8
40 fanconi-bickel syndrome 10.1 SLC2A2 INS ABCC8
41 deafness, autosomal dominant 69 10.0 HSPE1 CUTA
42 cardiomyopathy, dilated, 1o 10.0 SLC2A2 KCNJ11 ABCC8
43 maturity-onset diabetes of the young, type 11 10.0 PDX1 NEUROD1 KCNJ11 ABCC8
44 diarrhea 4, malabsorptive, congenital 10.0 RFX6 NEUROD1
45 hypertriglyceridemia, familial 10.0
46 macroglossia 10.0
47 pancreas, annular 10.0
48 duodenal atresia 10.0
49 pancreatic agenesis 1 10.0
50 retinitis pigmentosa 10.0

Graphical network of the top 20 diseases related to Diabetes Mellitus, Permanent Neonatal 4:



Diseases related to Diabetes Mellitus, Permanent Neonatal 4

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal 4

Clinical features from OMIM:

618858

GenomeRNAi Phenotypes related to Diabetes Mellitus, Permanent Neonatal 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 EIF2AK3 GCK KCNJ11 NEUROD1 PDX1 RFX6

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.03 ABCC8 EIF2AK3 GCK GLIS3 INS KCNJ11
2 homeostasis/metabolism MP:0005376 10.03 ABCC8 EIF2AK3 GATA6 GCK GCKR GLIS3
3 digestive/alimentary MP:0005381 9.87 EIF2AK3 INS NEUROD1 PDX1 PTF1A RFX6
4 liver/biliary system MP:0005370 9.56 EIF2AK3 GATA6 GCK GCKR INS PDX1
5 no phenotypic analysis MP:0003012 9.17 ABCC8 EIF2AK3 GLIS3 INS KCNJ11 PDX1

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal 4

Drugs for Diabetes Mellitus, Permanent Neonatal 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# 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
3 Insulin, Globin Zinc Phase 4
4 Hypoglycemic Agents Phase 4
5 insulin Phase 4
6 Glucagon-Like Peptide 1 Phase 4
7
Adenosine Approved, Investigational 58-61-7 60961
8 Immunoglobulins
9 Antibodies
10 Autoantibodies

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 KCNJ11 (KIR6.2) Mutations Completed NCT02624817 Phase 4 Sulfonylurea
2 Long-term Sulfonylurea Response and Glucose Control After Switching From Insulin in Children With Diabetes Due to ABCC8 (SUR1) Mutations Recruiting NCT02624830 Phase 4 Sulfonylurea
3 Sulfonylureas in Neonatal Diabetes Mellitus With Mutations of 2 Type of Subunits Kir6.2 and SUR1 of the Pancreatic Beta-cell ATP-sensitive K+ Channel. Completed NCT00610038 Phase 2 glibenclamide
4 A Prospective Study of Sulfonylureas in Patients With Diabetes Due to Kir6.2 Mutations Completed NCT00334711 Sulfonylurea
5 Activating Mutation in the Gene Encoding the Adenosine Tri-phosphate Sensitive Potassium Channel Subunits (SUR 1, Kir 6.2) in Diabetic Patients Under the Age of One Year Not yet recruiting NCT03519217

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal 4

Genetic Tests for Diabetes Mellitus, Permanent Neonatal 4

Anatomical Context for Diabetes Mellitus, Permanent Neonatal 4

MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal 4:

40
Pancreas, Heart, Brain, Kidney, Testes, Pancreatic Islet, Eye

Publications for Diabetes Mellitus, Permanent Neonatal 4

Articles related to Diabetes Mellitus, Permanent Neonatal 4:

(show top 50) (show all 250)
# Title Authors PMID Year
1
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 24 6 56
18162506 2008
2
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. 6 56 24
18171712 2008
3
Insulin gene mutations as a cause of permanent neonatal diabetes. 6 56 24
17855560 2007
4
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. 6 61 56
18451997 2008
5
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. 56 6
26101329 2015
6
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 61 24
22369132 2012
7
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. 24 61
19496964 2010
8
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. 24 61
19837917 2009
9
Diagnosis and treatment of neonatal diabetes: a United States experience. 61 24
18662362 2008
10
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 24 61
18571549 2008
11
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. 61 24
17919176 2007
12
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 24 61
17317760 2007
13
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 24 61
17213273 2007
14
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. 24 61
17259376 2007
15
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 61 24
15580558 2005
16
Mutations in PTF1A cause pancreatic and cerebellar agenesis. 24 61
15543146 2004
17
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 61 24
15583126 2004
18
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. 24 61
15181075 2004
19
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 61 24
12970316 2003
20
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. 24 61
12378186 2002
21
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 24
27284104 2016
22
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. 24
27033559 2016
23
11. Children and Adolescents. 24
26696687 2016
24
13. Diabetes Care in the Hospital. 24
26696689 2016
25
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. 24
25877689 2015
26
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 24
25182307 2014
27
GATA4 mutations are a cause of neonatal and childhood-onset diabetes. 24
24696446 2014
28
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 24
24138066 2014
29
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. 24
24411943 2014
30
The Krüppel-like protein Gli-similar 3 (Glis3) functions as a key regulator of insulin transcription. 24
23927931 2013
31
Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. 24
23600988 2013
32
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. 24
23223019 2013
33
Glis3 regulates neurogenin 3 expression in pancreatic β-cells and interacts with its activator, Hnf6. 24
22820919 2012
34
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. 24
21993633 2011
35
GATA6 haploinsufficiency causes pancreatic agenesis in humans. 24
22158542 2011
36
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. 24
21592955 2011
37
Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals. 24
21566073 2011
38
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. 24
21602428 2011
39
Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence. 24
21490072 2011
40
Novel GLIS3 mutations demonstrate an extended multisystem phenotype. 24
21139041 2011
41
Wolfram syndrome and WFS1 gene. 24
20738327 2011
42
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. 24
20854389 2010
43
Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. 24
20878480 2010
44
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. 24
20938745 2010
45
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. 24
20922570 2010
46
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. 24
20573748 2010
47
Neonatal diabetes mellitus: a model for personalized medicine. 24
20434356 2010
48
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. 24
19686306 2010
49
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 24
20009086 2010
50
Rfx6 directs islet formation and insulin production in mice and humans. 24
20148032 2010

Variations for Diabetes Mellitus, Permanent Neonatal 4

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INS NM_000207.3(INS):c.287G>A (p.Cys96Tyr)SNV Pathogenic 13387 rs80356671 11:2181128-2181128 11:2159898-2159898
2 INS NM_000207.3(INS):c.71C>A (p.Ala24Asp)SNV Pathogenic 13388 rs80356663 11:2182131-2182131 11:2160901-2160901
3 INS NM_000207.3(INS):c.143T>G (p.Phe48Cys)SNV Pathogenic 13389 rs80356668 11:2182059-2182059 11:2160829-2160829
4 INS NM_000207.3(INS):c.127T>G (p.Cys43Gly)SNV Pathogenic 21114 rs80356666 11:2182075-2182075 11:2160845-2160845
5 INS NM_000207.3(INS):c.265C>T (p.Arg89Cys)SNV Pathogenic 21117 rs80356669 11:2181150-2181150 11:2159920-2159920
6 INS , INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser)SNV Pathogenic 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
7 INS NM_000207.3(INS):c.187+241G>ASNV Pathogenic 268153 rs886041083 11:2181774-2181774 11:2160544-2160544

Expression for Diabetes Mellitus, Permanent Neonatal 4

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal 4.

Pathways for Diabetes Mellitus, Permanent Neonatal 4

Pathways related to Diabetes Mellitus, Permanent Neonatal 4 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 SLC2A2 RFX6 PTF1A PDX1 NEUROD1 INS
2
Show member pathways
12.62 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3 12.27 PDX1 NEUROD1 INS GCKR
4
Show member pathways
12.07 SLC2A2 KCNJ11 INS ABCC8
5 11.84 SLC2A2 PTF1A PDX1 NEUROD1 INS
6
Show member pathways
11.75 SLC2A2 PDX1 NEUROD1 INS GCK
7
Show member pathways
11.7 SLC2A2 RFX6 PTF1A PDX1 NEUROD1 INS
8
Show member pathways
11.61 SLC2A2 GCKR GCK
9
Show member pathways
11.21 SLC2A2 PDX1 NEUROD1 KCNJ11 INS-IGF2 INS
10 11.08 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
11 10.66 SLC2A2 INS

GO Terms for Diabetes Mellitus, Permanent Neonatal 4

Cellular components related to Diabetes Mellitus, Permanent Neonatal 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Diabetes Mellitus, Permanent Neonatal 4 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10 SLC2A2 SLC19A2 SLC15A3 KCNJ11 ABCC8
2 positive regulation of transcription, DNA-templated GO:0045893 9.99 RFX6 PTF1A PDX1 NEUROD1 GATA6
3 response to drug GO:0042493 9.88 PDX1 NEUROD1 KCNJ11 GATA6 ABCC8
4 carbohydrate metabolic process GO:0005975 9.86 SLC2A2 INS GCKR GCK
5 cell fate commitment GO:0045165 9.72 PTF1A NEUROD1 GATA6
6 glucose metabolic process GO:0006006 9.62 PDX1 KCNJ11 INS GCK
7 hindbrain development GO:0030902 9.61 PTF1A NEUROD1
8 nitric oxide mediated signal transduction GO:0007263 9.58 PDX1 NEUROD1
9 negative regulation of gluconeogenesis GO:0045721 9.58 INS GCK
10 pancreas development GO:0031016 9.58 PTF1A PDX1 GATA6
11 positive regulation of glycogen biosynthetic process GO:0045725 9.57 INS GCK
12 inorganic cation transmembrane transport GO:0098662 9.54 KCNJ11 ABCC8
13 cellular glucose homeostasis GO:0001678 9.54 GCKR GCK ABCC8
14 exocrine pancreas development GO:0031017 9.52 PTF1A PDX1
15 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.51 PDX1 NEUROD1
16 amacrine cell differentiation GO:0035881 9.49 PTF1A NEUROD1
17 detection of glucose GO:0051594 9.46 PDX1 GCK
18 endocrine pancreas development GO:0031018 9.46 RFX6 PDX1 NEUROD1 EIF2AK3
19 pancreatic A cell differentiation GO:0003310 9.43 RFX6 GATA6
20 type B pancreatic cell differentiation GO:0003309 9.43 RFX6 PDX1 GATA6
21 glucose homeostasis GO:0042593 9.43 RFX6 PDX1 NEUROD1 INS GCKR GCK
22 regulation of insulin secretion GO:0050796 9.1 SLC2A2 RFX6 NEUROD1 KCNJ11 GCK ABCC8

Molecular functions related to Diabetes Mellitus, Permanent Neonatal 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 RFX6 PTF1A PDX1 NEUROD1 GATA6
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 RFX6 PTF1A PDX1 NEUROD1 GLIS3 GATA6
3 cation-transporting ATPase activity GO:0019829 9.16 KCNJ11 ABCC8
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

Sources for Diabetes Mellitus, Permanent Neonatal 4

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