KPD
MCID: DBT084
MIFTS: 59

Diabetes Mellitus, Ketosis-Prone (KPD)

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

Aliases & Classifications for Diabetes Mellitus, Ketosis-Prone

MalaCards integrated aliases for Diabetes Mellitus, Ketosis-Prone:

Name: Diabetes Mellitus, Ketosis-Prone 56 12 73 29 13 39
Diabetic Ketoacidosis 12 54 43 15 17 71
Diabetes Mellitus, Ketosis-Prone, Susceptibility to 56 6
Ketosis-Prone Diabetes Mellitus 12 36
Kpd 56 73
Diabetes Mellitus, Insulin-Dependent 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant (in 1 patient)

Miscellaneous:
hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
near-normoglycemic remission for period of months to years without insulin treatment


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:1837
OMIM 56 612227
KEGG 36 H01224
ICD9CM 34 250.1
NCIt 49 C50530
SNOMED-CT 67 24927004
UMLS 71 C0011854 C0011880

Summaries for Diabetes Mellitus, Ketosis-Prone

OMIM : 56 In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002). (612227)

MalaCards based summary : Diabetes Mellitus, Ketosis-Prone, also known as diabetic ketoacidosis, is related to hypokalemia and exanthem, and has symptoms including polydipsia and polyuria. An important gene associated with Diabetes Mellitus, Ketosis-Prone is PAX4 (Paired Box 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aldosterone synthesis and secretion. The drugs Metformin and Canagliflozin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and thyroid, and related phenotypes are diabetes mellitus and autoimmunity

KEGG : 36 Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups, based on the presence of glutamic acid decarboxylase (GAD)65, GAD67, or IA-2 autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Homozygous carriers of the PAX4 R133W variant have an increased risk of KPD.

UniProtKB/Swiss-Prot : 73 Diabetes mellitus, ketosis-prone: An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding.

Wikipedia : 74 Ketosis-prone diabetes is an intermediate form of diabetes that has some characteristics of type 1 and... more...

Related Diseases for Diabetes Mellitus, Ketosis-Prone

Diseases related to Diabetes Mellitus, Ketosis-Prone via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 558)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 31.4 PIK3C2A INS ALB
2 exanthem 30.5 PIK3C2A CTLA4 ALB
3 hyperthyroidism 30.5 INS CTLA4 ALB
4 hypoglycemia 30.5 KCNJ11 INS GCG DPP4 ABCC8
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.5 PTPRN INS GAD2 GAD1 CTLA4
6 monocarboxylate transporter 1 deficiency 30.4 INS GAD1
7 autoimmune polyendocrine syndrome, type ii 30.3 INS GAD2 GAD1
8 autoimmune disease 30.3 INS GAD2 GAD1 DPP4 CTLA4
9 aspiration pneumonia 30.3 PIK3C2A INS ALB
10 hypoglycemic coma 30.1 INS GCG DPP4
11 diabetes mellitus, insulin-dependent 30.0 SLC5A4 SLC5A2 SLC30A8 SLC30A10 PTPRN PAX4
12 mediastinitis 30.0 INS ALB
13 autonomic neuropathy 30.0 PTPRN INS GCG ALB
14 silent myocardial infarction 30.0 SLC5A4 SLC5A2 REG1A INS
15 hirata disease 29.9 SLC30A8 SLC30A10 INS GCG
16 leptin deficiency or dysfunction 29.9 INS GCG GAD2 ALB
17 acute cystitis 29.8 SLC5A4 SLC5A2 REG1A INS DPP4 ALB
18 gestational diabetes 29.8 PTPRN KCNJ11 INS GCG ABCC8
19 peripheral nervous system disease 29.8 INS GCG CTLA4 ALB
20 pancreas disease 29.8 INS GCG DPP4 ALB
21 intermediate coronary syndrome 29.7 PIK3C2A INS DPP4 ALB
22 transient neonatal diabetes mellitus 29.6 KCNJ11 INS ABCC8
23 non-alcoholic fatty liver disease 29.6 INS GCG DPP4 ALB
24 neonatal diabetes mellitus 29.4 SLC30A8 PAX4 KCNJ11 INS GCG ABCC8
25 hyperinsulinism 29.3 KCNJ11 INS GCG DPP4 ABCC8
26 maturity-onset diabetes of the young, type 3 29.3 PAX4 KCNJ11 INS ABCC8
27 acute insulin response 29.2 KCNJ11 INS GCG ABCC8
28 carbohydrate metabolic disorder 29.2 KCNJ11 INS GCG ABCC8
29 insulinoma 29.2 PTPRN PAX4 INSM2 INS GCG ABCC8
30 glucose intolerance 29.0 KCNJ11 INS GCG DPP4 ALB ABCC8
31 diabetes mellitus, permanent neonatal 28.8 PTPRN PAX4 KCNJ11 INS GCG ABCC8
32 hyperglycemia 28.2 SLC5A2 SLC5A1 PAX4 KCNJ11 INS GCG
33 body mass index quantitative trait locus 11 28.0 SLC5A1 KCNJ11 INS GCG GAD2 DPP4
34 maturity-onset diabetes of the young 27.4 SLC30A8 SLC30A10 REG1A PTPRN PAX4 KCNJ11
35 glucose metabolism disease 27.2 SLC5A4 SLC5A2 SLC30A8 PTPRN KCNJ11 INS
36 diabetes mellitus 27.1 SLC5A2 SLC30A8 REG1A PTPRN PIK3C2A PAX4
37 diabetes mellitus, noninsulin-dependent 26.4 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 REG1A
38 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 11.6
39 metabolic acidosis 10.9
40 hydrops, lactic acidosis, and sideroblastic anemia 10.9
41 ocular motor apraxia 10.9
42 pancreatitis 10.6
43 hypertriglyceridemia, familial 10.6
44 brain edema 10.5
45 pulmonary edema 10.5
46 erythematosquamous dermatosis 10.5 INS GCG
47 mucormycosis 10.5
48 hypophosphatemia 10.5
49 testicular leydig cell tumor 10.5 SLC5A4 SLC5A2
50 encephalopathy 10.5

Comorbidity relations with Diabetes Mellitus, Ketosis-Prone via Phenotypic Disease Network (PDN):


Acute Cystitis Decubitus Ulcer
Heart Disease Hypertension, Essential

Graphical network of the top 20 diseases related to Diabetes Mellitus, Ketosis-Prone:



Diseases related to Diabetes Mellitus, Ketosis-Prone

Symptoms & Phenotypes for Diabetes Mellitus, Ketosis-Prone

Human phenotypes related to Diabetes Mellitus, Ketosis-Prone:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 autoimmunity 31 HP:0002960
3 insulin resistance 31 HP:0000855
4 ketoacidosis 31 HP:0001993
5 beta-cell dysfunction 31 HP:0006279

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
ketoacidosis
insulin resistance, variable

Immunology:
autoimmunity to pancreatic beta cells (rare)

Abdomen Pancreas:
beta-cell dysfunction of varying degrees

Clinical features from OMIM:

612227

UMLS symptoms related to Diabetes Mellitus, Ketosis-Prone:


polydipsia, polyuria

MGI Mouse Phenotypes related to Diabetes Mellitus, Ketosis-Prone:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 ABCC8 ALB CTLA4 DPP4 GAD1 GAD2
2 digestive/alimentary MP:0005381 9.7 ALB CTLA4 GAD1 GAD2 INS SLC5A1
3 homeostasis/metabolism MP:0005376 9.53 ABCC8 ALB CTLA4 DPP4 GAD1 GAD2

Drugs & Therapeutics for Diabetes Mellitus, Ketosis-Prone

Drugs for Diabetes Mellitus, Ketosis-Prone (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 210)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Canagliflozin Approved Phase 4 842133-18-0
3
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Gliclazide Approved Phase 4 21187-98-4 3475
6
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
7
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
8
Glimepiride Approved Phase 4 93479-97-1 3476
9
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
10
Empagliflozin Approved Phase 4 864070-44-0
11
tannic acid Approved Phase 4 1401-55-4
12
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
13
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
15
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
16
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
17
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
18 Insulin degludec, insulin aspart drug combination Phase 4
19 Incretins Phase 4
20 Hormone Antagonists Phase 4
21 Hormones Phase 4
22 Isophane insulin, beef Phase 4
23 Isophane Insulin, Human Phase 4
24 Insulin, Isophane Phase 4
25 Vitamins Phase 4
26 Micronutrients Phase 4
27 Trace Elements Phase 4
28 Nutrients Phase 4
29 Anti-Arrhythmia Agents Phase 4
30 Secretagogues Phase 4
31 Hydroxycholecalciferols Phase 4
32 Ergocalciferols Phase 4
33 Calciferol Phase 4
34 Vitamin D2 Phase 4
35 Calcium, Dietary Phase 4
36 Immunologic Factors Phase 4
37 Immunosuppressive Agents Phase 4
38 Central Nervous System Depressants Phase 4
39 Tranquilizing Agents Phase 4
40 Dopamine Agents Phase 4
41 Dopamine Antagonists Phase 4
42 Serotonin Agents Phase 4
43 Antipsychotic Agents Phase 4
44 Psychotropic Drugs Phase 4
45 Serotonin Antagonists Phase 4
46 Antidepressive Agents Phase 4
47 Dopamine D2 Receptor Antagonists Phase 4
48 Serotonin 5-HT1 Receptor Agonists Phase 4
49 Dopamine agonists Phase 4
50 Serotonin 5-HT2 Receptor Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 138)
# Name Status NCT ID Phase Drugs
1 Improving Glycaemic Control in Malaysian Patients With Type 2 Diabetes Mellitus With Insulin Pump Therapy Unknown status NCT03112538 Phase 4 Multiple daily injections of insulin
2 Ketosis-Prone Diabetes in African Americans: Predictive Markers, Underlying Mechanisms, and Treatment Outcomes: The Effects of Metformin vs. Sitagliptin on Beta-Cell Preservation in Obese Subjects With Ketosis-Prone Type 2 Diabetes Mellitus Completed NCT01099618 Phase 4 metformin;placebo;Sitagliptin
3 DirecNet Pilot Study to Evaluate the GlucoWatch G2 Biographer in the Management of Type 1 Diabetes in Children Completed NCT00069615 Phase 4
4 DirecNet Inpatient Study to Test the Accuracy of Continuous Blood Glucose Monitoring Devices in Children With Type 1 Diabetes Completed NCT00069537 Phase 4
5 Basal Insulin in the Management of Patients With Diabetic Ketoacidosis Completed NCT00590044 Phase 4 insulin glargine+ glulisine;NPH + Regular insulin
6 DirecNet Randomized Clinical Trial to Assess the Effectiveness of the GlucoWatch Biographer in the Management of Type 1 Diabetes in Children Completed NCT00069628 Phase 4
7 Combination of Sulfonylureas and Insulin Glargine as Safety Net Outpatient Therapy for Unstable Diabetes and Impending Diabetic Ketoacidosis (DKA) Completed NCT00732524 Phase 4 Glipizide;Glipizide and Glargine
8 The Effect of Supplementation With Two Different Doses of Vitamin D (500 IU vs 1000IU)on Bone Mineral Density, Serum 25 Hydroxyvitamin D and Hand Grip Strength in Children With Diabetes Mellitus Type 1 - a Randomized Controlled Trial. Completed NCT01277913 Phase 4 Vitamin D3;Vitamin D3
9 Effect of Insulin Glulisine Compared to Insulin Aspart and Insulin Lispro When Administered by Continuous Subcutaneous Insulin Infusion (CSII) on Specific Pump Parameters in Patient With Type 1 Diabetes Mellitus Completed NCT00607087 Phase 4 Insulin glulisine;Insulin lispro;Insulin aspart
10 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Ability of Ramelteon 1 mg, 4 mg, and 8 mg to Alleviate the Insomnia Symptoms Associated With Eastward Bound Jet Lag Across 5 Time Zones in Healthy Adult Volunteers Completed NCT00492011 Phase 4 Ramelteon;Ramelteon;Ramelteon;Placebo
11 Phase 4 Study of Comparison of Combination Therapy of Gliclazide MR and Basal Insulin With Pre-mix Insulin Monotherapy for the Patients With Type 2 Diabetes Mellitus Completed NCT00736515 Phase 4 Gliclazide MR and Insulin Glargine Injection;Biosynthetic Human Insulin Injection
12 Changes in Adiposity and Metabolic Measures During Medication Switches to Aripiprazole From Other Atypical Antipsychotics Completed NCT00205660 Phase 4
13 A Randomised Controlled Trial for People With Established Type 2 Diabetes During Ramadan: Canagliflozin (Invokana™) vs. Standard Dual Therapy Regimen: The 'Can Do Ramadan' Study Completed NCT02694263 Phase 4 Canagliflozin;Repaglinide;Pioglitazone;Gliclazide;Glimepiride
14 Management of Diabetic Ketoacidosis in Children: Does Early Glargine Prevent Rebound Hyperglycemia? Recruiting NCT03107208 Phase 4 Glargine
15 Can Addition of Pioglitazone to SGLT2 Inhibitor in Type 1 Diabetic Patients Amplify the Decrease in HbA1c and Prevent the Increase in Plasma Ketone Concentration? Recruiting NCT03878459 Phase 4 Pioglitazone 45 mg;Placebo
16 SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation: A Randomised Double-blind Placebo-controlled Trial (The SEESAW Study) Recruiting NCT02798744 Phase 4 Empagliflozin;Placebo
17 A Single-center Randomized Double Blinded Control Trial of Intravenous Fluid Content in Children With Diabetic Ketoacidosis Admitted to the Pediatric Intensive Care Unit Suspended NCT03066440 Phase 4 Normal saline;Lactated Ringers
18 Tight Intra-Operative Glucose Control Using Continuous Insulin Infusion During Coronary Artery Bypass Surgery: Randomized Controlled Trial Terminated NCT00394303 Phase 4 Intraoperative continuous insulin infusion
19 Efficacy and Safety of Insulin Glulisine Compared With Insulin Lispro in Children and Adolescents With Type 1 Diabetes Mellitus: A 26 Week, Multicenter, Open, Parallel Clinical Trial Completed NCT00115570 Phase 3 Insulin glulisine;insulin lispro;insulin glargine;NPH insulin
20 Effects of Candesartan Cilexetil (Candesartan) on Diabetic Retinopathy in Type 1 Diabetic Patients Without Retinopathy. Completed NCT00252733 Phase 3 candesartan cilexetil
21 Fluid Therapy and Cerebral Injury in Pediatric Diabetic Ketoacidosis Completed NCT01365793 Phase 3 0.45% saline replacement fluid;0.9% saline replacement fluid;0.45% saline intravenous fluid;0.9% saline Intravenous fluid
22 Evaluation of the Effect of the InsuPatch Device on Insulin Pharmacokinetics in Clamp Studies Completed NCT01216618 Phase 3
23 Statins in Children With Type 1 Diabetes: Effects on Metabolism, Inflammation and Endothelial Function Completed NCT01236365 Phase 3 Atorvastatin;Atorvastatin Placebo
24 Effects of Single Doses of Liraglutide and Dapagliflozin on Hyperglycemia and Ketogenesis in Type 1 Diabetes Completed NCT02777073 Phase 3 Farxiga;Victoza;Placebo
25 A Pilot Study to Evaluate the Navigator Continuous Glucose Sensor in the Management of Type 1 Diabetes in Children Completed NCT00166673 Phase 2, Phase 3
26 Diagnosis of Ventilator- Associated Pneumonia in Children: A Comparative Study of Bronchoscopic and Non-Bronchoscopic Methods Completed NCT00495963 Phase 3
27 AN OPEN-LABEL, RANDOMIZED, MULTICENTER, PHASE III STUDY TO COMPARE THE IMMUNOGENICITY, EFFICACY, AND SAFETY OF GAN & LEE PHARMACEUTICALS INSULIN GLARGINE INJECTION TO LANTUS® IN ADULT SUBJECTS WITH TYPE 1 DIABETES MELLITUS Recruiting NCT03371082 Phase 3
28 SGLT-2 Inhibition Using Dapagliflozin During and After Physical Exercise - Effects on Glycemic Variability, Hormonal Regulators of Glucose Homeostasis and Ketone Body in Type 1 Diabetes - a Randomized, Placebo-controlled, Open-label, Cross-over Intervention Study Not yet recruiting NCT04049110 Phase 3 Forxiga 10mg;Placebo
29 Effects of SGLT-2 Inhibitor Dapagliflozin on Hormonal Glucose Regulation and Ketogenesis in Patients With Type 1 Diabetes - a Randomised, Placebo-controlled, Open-label, Cross-over Intervention Study Not yet recruiting NCT04035031 Phase 3 Forxiga 10mg;Placebo
30 The Efficacy of Allogeneic Umbilical Cord Mesenchymal Stem Cell Transplantation to Treat New-onset Type 1 Diabetes With Diabetic Ketoacidosis Unknown status NCT02763423 Phase 2
31 hOKT3gamma1 (Ala-Ala) for the Prevention of Human Islet Allograft Failure Unknown status NCT00008801 Phase 1, Phase 2 hOKT3gamma1 (Ala-ala)
32 Safety and Efficacy of Mesenchymal Stem Cells in Newly-diagnosed Type 1 Diabetic Patients Unknown status NCT01322789 Phase 1, Phase 2
33 A Randomized, Double-blind, Placebo-controlled, Rising Dose, Multicenter Study to Evaluate the Efficacy and Safety of 90 Days of 300 or 600 mg Daily Subcutaneous Injections of INGAP Peptide in Type I Diabetes Mellitus Patients Completed NCT00071409 Phase 2 INGAP-Peptide;INGAP-Peptide;placebo
34 A Single-Center, Multiple-dose, Randomized, Cross-Over, Double-Blind, Placebo-Controlled Study to Evaluate the Pharmacodynamics, Safety, and Tolerability of Oshadi Icp In Patients With Type 1 Diabetes Mellitus - Phase Ib Clinical Study Completed NCT01772251 Phase 1, Phase 2 Oshadi Icp
35 Family Management of Childhood Diabetes Study Completed NCT00273286 Phase 2
36 A Phase II, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PROCHYMAL® (Ex Vivo Cultured Adult Human Mesenchymal Stem Cells) for Recently Diagnosed Type 1 Diabetes Mellitus Completed NCT00690066 Phase 2 PROCHYMAL®;Placebo
37 A Randomized Phase 2, Double-blind, Placebo-controlled, Treat-to-Target, Parallel-group, 3-arm, Multicenter Study to Assess the Efficacy and Safety of Canagliflozin as Add-on Therapy to Insulin in the Treatment of Subjects With Type 1 Diabetes Mellitus Completed NCT02139943 Phase 2 Canagliflozin 100 mg;Canagliflozin 300 mg;Placebo
38 Islet Transplantation for Type 1 Diabetic Patients Using the Edmonton Protocol of Steroid Free Immunosuppression (ITN005CT) Completed NCT00014911 Phase 2 Sirolimus;Tacrolimus;Daclizumab;Sulfamethoxazole;Ganciclovir;Trimethoprim;Pentamidine
39 A Phase 2, Multicentre, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy and Safety of 400 mg Twice a Day Oral Ladarixin in Patients With New-onset Type 1 Diabetes Completed NCT02814838 Phase 2 Ladarixin;Placebo
40 Prospective Study of Autologous Hematopoietic Stem Cell Transplantation to Treat New Onset Type 1 Diabetes Completed NCT01341899 Phase 2
41 Open-Label, Feasibility Study of Combined Plasma Exchange (PEX), Rituximab, and Corticosteroids in Patients With Acute Idiopathic Pulmonary Fibrosis Exacerbations Completed NCT01266317 Phase 1, Phase 2 Combined Plasma Exchange (PEX), Rituximab, and Corticosteroids
42 Reduction of Nocturnal Hypoglycemia and Hyperglycemia in the Home Using Predictive Algorithms, Pump Suspension, and Insulin Dosing Completed NCT02438189 Phase 2
43 Reduction of Nocturnal Hypoglycemia and Hyperglycemia in the Home Using Predictive Algorithms, Pump Suspension, and Insulin Dosing in Children and Young Adolescents (PHM3) Completed NCT02714972 Phase 2
44 Thiamine as Adjunctive Therapy for Diabetic Ketoacidosis Recruiting NCT03717896 Phase 2 200mg IV thiamine in 50mL 0.9% saline;Placebo
45 Pancreatic Islet Transplantation Into the Anterior Chamber of the Eye Recruiting NCT02846571 Phase 1, Phase 2
46 Anti-IL-1 Treatment in Children Diabetic Keto-Acidosis (DKA) at Diagnosis of Type 1 Diabetes. Withdrawn NCT01477476 Phase 2 Anakinra
47 Evaluation of Tolerability, Safety, and Pharmacokinetics of hOKT3g1 (Ala-Ala) Completed NCT00073255 Phase 1 hokt3g1 (ALA-ALA)
48 Phase I Clinical Trial on Intra-tumoral Ipilimumab Plus Intravenous Nivolumab Following the Resection of Recurrent Glioblastoma Recruiting NCT03233152 Phase 1 Ipilimumab (YervoyTM, 50 mg/10 mL solution);Nivolumab (OpdivoTM, 40 mg/4mL solution)
49 Effect of Intravenous Alpha-1 Antitrypsin on Preserving Beta-cell Function in New-onset Type 1 Diabetes Mellitus (ITN041AI) Terminated NCT01183468 Phase 1
50 Compliance With American Diabetes Association Treatment Guidelines for Adult Ketoacidosis Unknown status NCT00589680

Search NIH Clinical Center for Diabetes Mellitus, Ketosis-Prone

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Insulin
insulin beef, isophane
insulin beef-pork, isophane
insulin degludec
Insulin Glargine
insulin human, isophane
Insulin Lispro
insulin pork, isophane
Insulin, Aspart Protamine, Human
Insulin, Aspart, Human
Insulin, Glulisine, Human
Insulin, Prompt Zinc, Beef
Insulin, Prompt Zinc, Beef-Pork
Insulin, Prompt Zinc, Pork
Insulin, Protamine Lispro, Human
insulin, protamine zinc, beef
Insulin, Protamine Zinc, Beef-Pork
Insulin, Protamine Zinc, Pork
Insulin, Regular, Beef
insulin, regular, beef-pork
Insulin, Regular, Pork
Insulin, Zinc, Human
Insulin, Zinc, Pork
INSULIN,DETEMIR,HUMAN
INSULIN,REGULAR,HUMAN BUFFERED
Lente Insulin, Beef
Lente Insulin, Beef-Pork
Pramlintide
Regular Insulin, Human
Ultralente Insulin, Beef
Ultralente Insulin, Beef-Pork
Ultralente Insulin, Human

Cochrane evidence based reviews: diabetic ketoacidosis

Genetic Tests for Diabetes Mellitus, Ketosis-Prone

Genetic tests related to Diabetes Mellitus, Ketosis-Prone:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Ketosis-Prone 29 PAX4

Anatomical Context for Diabetes Mellitus, Ketosis-Prone

MalaCards organs/tissues related to Diabetes Mellitus, Ketosis-Prone:

40
Brain, Kidney, Thyroid, Liver, Heart, Testes, Pituitary

Publications for Diabetes Mellitus, Ketosis-Prone

Articles related to Diabetes Mellitus, Ketosis-Prone:

(show top 50) (show all 5185)
# Title Authors PMID Year
1
PAX4 gene variations predispose to ketosis-prone diabetes. 56 6
15509590 2004
2
HLA class II alleles specify phenotypes of ketosis-prone diabetes. 54 61 56
18316396 2008
3
Narrative review: ketosis-prone type 2 diabetes mellitus. 54 61 56
16520476 2006
4
Syndromes of ketosis-prone diabetes mellitus. 61 56
18292467 2008
5
Accuracy and predictive value of classification schemes for ketosis-prone diabetes. 61 56
17130187 2006
6
Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes. 61 56
14602731 2003
7
Diagnosis and classification of diabetes mellitus. 56
18165338 2008
8
Ketosis-prone type 2 diabetes: time to revise the classification of diabetes. 56
17130220 2006
9
Ketosis-prone diabetes--a new subgroup of patients with atypical type 1 and type 2 diabetes? 56
14602730 2003
10
Report of the expert committee on the diagnosis and classification of diabetes mellitus. 56
12502614 2003
11
Diabetes in Africans. Part 2: Ketosis-prone atypical diabetes mellitus. 56
11938022 2002
12
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. 56
9203460 1997
13
Utility of initial bolus insulin in the treatment of diabetic ketoacidosis. 54 61
18514472 2010
14
Cerebral metabolic alterations in rats with diabetic ketoacidosis: effects of treatment with insulin and intravenous fluids and effects of bumetanide. 54 61
20028943 2010
15
Lack of lipotoxicity effect on {beta}-cell dysfunction in ketosis-prone type 2 diabetes. 54 61
20028938 2010
16
Low dose (0.05 units/kg/h) is comparable with standard dose (0.1 units/kg/h) intravenous insulin infusion for the initial treatment of diabetic ketoacidosis in children with type 1 diabetes-an observational study. 54 61
19602154 2010
17
Relapse of diabetic ketoacidosis secondary to insulin pump malfunction diagnosed by capillary blood 3-hydroxybutyrate: a case report. 54 61
19918445 2009
18
Insulin analogs versus human insulin in the treatment of patients with diabetic ketoacidosis: a randomized controlled trial. 54 61
19366972 2009
19
Insulin requirement in preschoolers treated with insulin pumps at the onset of type 1 diabetes mellitus. 54 61
19021593 2009
20
Is subcutaneous administration of rapid-acting insulin as effective as intravenous insulin for treating diabetic ketoacidosis? 54 61
19177639 2009
21
Diabetic ketoacidosis caused by exposure of insulin pump to heat and sunlight. 54 61
19124546 2009
22
Is a priming dose of insulin necessary in a low-dose insulin protocol for the treatment of diabetic ketoacidosis? 54 61
18694978 2008
23
People with type 1 diabetes using short acting analogue insulins are less dehydrated than those with using human soluble insulin prior to onset of diabetic ketoacidosis. 54 61
18694627 2008
24
New-onset diabetes in an obese adolescent: diagnostic dilemmas. 54 61
18725905 2008
25
Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? 54 61
18294223 2008
26
Insulin infusion via an intraosseous needle in diabetic ketoacidosis. 54 61
18326143 2008
27
Diabetic ketoacidosis in a patient with acromegaly. 54 61
17908670 2007
28
Insulin gene mutations as a cause of permanent neonatal diabetes. 54 61
17855560 2007
29
Insulin glargine supplementation during early management phase of diabetic ketoacidosis in children. 54 61
17508198 2007
30
Hydroxybutyrate near-patient testing to evaluate a new end-point for intravenous insulin therapy in the treatment of diabetic ketoacidosis in children. 54 61
17550425 2007
31
Serum glucose changes during insulin therapy in pediatric patients with diabetic ketoacidosis. 54 61
17515702 2007
32
Ketosis-prone type 2 diabetes: effect of hyperglycemia on beta-cell function and skeletal muscle insulin signaling. 54 61
17599861 2007
33
[Case of fulminant type 1 diabetes mellitus complicated with acute renal failure treated with continuous hemodiafiltration]. 54 61
17315734 2007
34
Association of amino-terminal-specific antiglutamate decarboxylase (GAD65) autoantibodies with beta-cell functional reserve and a milder clinical phenotype in patients with GAD65 antibodies and ketosis-prone diabetes mellitus. 54 61
17090641 2007
35
[Diabetic ketoacidosis responsive to methotrexate in a patient with a mixed connective tissue disease]. 54 61
17369988 2007
36
Metabolic control with insulin pump therapy: the Waikato experience. 54 61
17277817 2007
37
[Treatment of type 1 diabetes mellitus revealed below 7 years of age in the Diabetes Center of Silesia, Poland]. 54 61
17880811 2007
38
Evolution of a diabetes inpatient safety committee. 54 61
16905524 2006
39
Feasibility and safety of insulin pump therapy in children aged 2 to 7 years with type 1 diabetes: a retrospective study. 54 61
16740857 2006
40
Subcutaneous lispro and intravenous regular insulin treatments are equally effective and safe for the treatment of mild and moderate diabetic ketoacidosis in adult patients. 54 61
16620355 2006
41
Relationship between skin acetone and blood beta-hydroxybutyrate concentrations in diabetes. 54 61
16223475 2006
42
[Diabetic ketoacidosis in an HIV-infected patient undergoing antiretroviral therapy]. 54 61
16513058 2006
43
Early detection of insulin deprivation in continuous subcutaneous insulin infusion-treated patients with type 1 diabetes. 54 61
16472052 2006
44
Insulin and glucagon ratio in the patho-physiology of diabetic ketoacidosis and hyperosmolar hyperglycemic non-ketotic diabetes. 54 61
16441980 2006
45
Diabetic ketoacidosis: risk factors, mechanisms and management strategies in sub-Saharan Africa: a review. 54 61
16619733 2005
46
Metabolic hyperglycemic emergencies with acute pancreatitis in a child with known insulin-dependent diabetes mellitus. 54 61
16276263 2005
47
Subcutaneous use of a fast-acting insulin analog: an alternative treatment for pediatric patients with diabetic ketoacidosis. 54 61
16043723 2005
48
Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion. 54 61
15869925 2005
49
Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy. 54 61
15983674 2005
50
CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians. 54 61
15860238 2005

Variations for Diabetes Mellitus, Ketosis-Prone

ClinVar genetic disease variations for Diabetes Mellitus, Ketosis-Prone:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX4 NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)SNV Uncertain significance 13792 rs35155575 7:127255466-127255466 7:127615412-127615412
2 PAX4 NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp)SNV Benign/Likely benign 13791 rs2233578 7:127254551-127254551 7:127614497-127614497

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Ketosis-Prone:

73
# Symbol AA change Variation ID SNP ID
1 PAX4 p.Arg45Trp VAR_054880
2 PAX4 p.Arg141Trp VAR_054882 rs2233578

Expression for Diabetes Mellitus, Ketosis-Prone

Search GEO for disease gene expression data for Diabetes Mellitus, Ketosis-Prone.

Pathways for Diabetes Mellitus, Ketosis-Prone

Pathways related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SLC5A4 SLC5A2 SLC5A1 SLC30A8 KCNJ11 ALB
2
Show member pathways
12.66 KCNJ11 INS GCG ALB ABCC8
3
Show member pathways
12.54 PTPRN INS GAD2 GAD1 CTLA4
4
Show member pathways
11.98 KCNJ11 INS GCG ABCC8
5 11.92 SLC5A2 SLC5A1 INS GCG GAD2 GAD1
6
Show member pathways
11.82 SLC30A8 INS GCG DPP4
7
Show member pathways
11.65 SLC5A4 SLC5A2 SLC5A1
8
Show member pathways
11.44 PIK3C2A KCNJ11 INS ABCC8
9 10.74 GAD2 GAD1
10
Show member pathways
10.57 GAD2 GAD1
11 10.57 KCNJ11 INS ALB ABCC8
12 10.41 GAD2 GAD1

GO Terms for Diabetes Mellitus, Ketosis-Prone

Cellular components related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 SLC30A8 SLC30A10 PTPRN PIK3C2A GAD2 CTLA4
2 plasma membrane GO:0005886 9.77 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 PTPRN
3 inhibitory synapse GO:0060077 9.32 GAD2 GAD1
4 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD2 GAD1
5 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 KCNJ11
2 response to drug GO:0042493 9.77 PAX4 KCNJ11 GAD2 GAD1 ABCC8
3 transmembrane transport GO:0055085 9.5 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 KCNJ11
4 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.49 SLC30A10 INS
5 neurotransmitter biosynthetic process GO:0042136 9.48 GAD2 GAD1
6 locomotory exploration behavior GO:0035641 9.46 GAD1 DPP4
7 negative regulation of protein oligomerization GO:0032460 9.4 INS ALB
8 glucose transmembrane transport GO:1904659 9.33 SLC5A4 SLC5A2 SLC5A1
9 positive regulation of type B pancreatic cell proliferation GO:1904692 9.32 REG1A PTPRN
10 glutamate decarboxylation to succinate GO:0006540 9.26 GAD2 GAD1
11 regulation of insulin secretion GO:0050796 8.92 KCNJ11 GCG DPP4 ABCC8

Molecular functions related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.33 GAD2 GAD1 ALB
2 cation transmembrane transporter activity GO:0008324 9.32 SLC30A8 SLC30A10
3 glutamate binding GO:0016595 9.26 GAD2 GAD1
4 glutamate decarboxylase activity GO:0004351 8.96 GAD2 GAD1
5 glucose:sodium symporter activity GO:0005412 8.8 SLC5A4 SLC5A2 SLC5A1

Sources for Diabetes Mellitus, Ketosis-Prone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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