KPD
MCID: DBT084
MIFTS: 60

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 57 12 72 29 13 39
Diabetic Ketoacidosis 12 54 44 15 17 70
Diabetes Mellitus, Ketosis-Prone, Susceptibility to 57 6
Ketosis-Prone Diabetes Mellitus 12 36
Kpd 57 72
Diabetes Mellitus, Insulin-Dependent 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 612227
KEGG 36 H01224
ICD9CM 34 250.1
NCIt 50 C50530
SNOMED-CT 67 154671004
UMLS 70 C0011854 C0011880

Summaries for Diabetes Mellitus, Ketosis-Prone

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Diabetes Mellitus, Ketosis-Prone, also known as diabetic ketoacidosis, is related to latent autoimmune diabetes in adults and hypoglycemia, 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 Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Insulin glargine and Insulin glulisine have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and pituitary, and related phenotypes are diabetes mellitus and autoimmunity

Disease Ontology : 12 A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.

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 : 72 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 : 73 Ketosis-prone diabetes (KPD) is an intermediate form of diabetes that has some characteristics of type 1... 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 600)
# Related Disease Score Top Affiliating Genes
1 latent autoimmune diabetes in adults 30.9 INS CTLA4
2 hypoglycemia 30.6 KCNJ11 INS GLP1R GCG DPP4 ABCC8
3 exanthem 30.6 PIK3C2A CTLA4 ALB
4 hyperthyroidism 30.5 INS CTLA4 ALB
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.4 PTPRN INS GAD2 GAD1 CTLA4
6 intermediate coronary syndrome 30.4 PIK3C2A INS DPP4
7 neonatal diabetes 30.3 PAX4 KCNJ11 INS ABCC8
8 autonomic neuropathy 30.3 INS GCG ALB
9 aspiration pneumonia 30.3 PIK3C2A INS ALB
10 autoimmune polyendocrine syndrome, type ii 30.2 INS GAD2 GAD1
11 silent myocardial infarction 30.2 SLC5A4 SLC5A2 INS
12 gestational diabetes 30.2 PTPRN KCNJ11 INS GCG ABCC8
13 mediastinitis 30.1 INS ALB
14 paralytic ileus 30.0 INS ALB
15 inherited metabolic disorder 30.0 SI INS GCG ALB
16 fanconi syndrome 30.0 SLC5A4 SLC5A2 ALB
17 congestive heart failure 29.9 PIK3C2A INS ALB ABCC8
18 factitious disorder 29.8 KCNJ11 INS ABCC8
19 autoimmune disease 29.8 PTPRN INS GAD2 GAD1 DPP4 CTLA4
20 hyperinsulinism 29.8 KCNJ11 INS GCG DPP4 ABCC8
21 permanent neonatal diabetes mellitus 29.7 PAX4 KCNJ11 INS GCG ABCC8
22 transient neonatal diabetes mellitus 29.7 KCNJ11 INS ABCC8
23 leptin deficiency or dysfunction 29.7 INS GLP1R GCG DPP4
24 acute insulin response 29.6 KCNJ11 INS GCG ABCC8
25 hypoglycemic coma 29.6 SI INS GCG DPP4
26 hirata disease 29.6 SLC30A8 SLC30A10 SI INS
27 meckel diverticulum 29.6 GCG ALB
28 maturity-onset diabetes of the young, type 3 29.5 PAX4 KCNJ11 INS GCG ABCC8
29 diabetes mellitus 29.4 SLC5A2 SLC30A8 PTPRN PIK3C2A PAX4 KCNJ11
30 carbohydrate metabolic disorder 29.4 SI INS GCG ABCC8
31 acute cystitis 29.4 SLC5A4 SLC5A2 SLC5A1 INS DPP4 ALB
32 glucose intolerance 29.3 KCNJ11 INS GLP1R GCG DPP4 ALB
33 type 1 diabetes mellitus 28.8 SLC30A8 SLC30A10 PTPRN PAX4 INS GCG
34 celiac disease 1 28.8 SLC30A8 SLC30A10 PTPRN INS GCG GAD2
35 insulinoma 28.8 PTPRN PAX4 INSM2 INS GLP1R GCG
36 type 2 diabetes mellitus 28.6 SLC5A2 SLC30A8 PTPRN PIK3C2A PAX4 KCNJ11
37 body mass index quantitative trait locus 11 28.2 SLC5A1 KCNJ11 INS GLP1R GCG GAD2
38 maturity-onset diabetes of the young 28.2 SLC30A8 SLC30A10 PTPRN PAX4 KCNJ11 INS
39 hyperglycemia 28.2 SLC5A2 SLC5A1 PAX4 KCNJ11 INS GLP1R
40 glucose metabolism disease 27.7 SLC5A4 SLC5A2 SI KCNJ11 INS GLP1R
41 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 11.1
42 metabolic acidosis 11.0
43 ocular motor apraxia 10.9
44 hypokalemia 10.8
45 hypertriglyceridemia, familial 10.6
46 brain edema 10.6
47 pulmonary edema 10.6
48 mucormycosis 10.6
49 hypophosphatemia 10.6
50 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Diabetes Mellitus, Ketosis-Prone:


polydipsia; polyuria

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.75 PIK3C2A
2 Decreased viability GR00055-A-2 9.75 PIK3C2A
3 Decreased viability GR00055-A-3 9.75 PIK3C2A
4 Decreased viability GR00173-A 9.75 PTPRN
5 Decreased viability GR00221-A-1 9.75 PIK3C2A
6 Decreased viability GR00221-A-2 9.75 PIK3C2A
7 Decreased viability GR00221-A-4 9.75 PIK3C2A
8 Decreased viability GR00240-S-1 9.75 PIK3C2A
9 Decreased viability GR00249-S 9.75 ALB GCG PIK3C2A PTPRN SLC30A10 SLC30A8
10 Decreased viability GR00342-S-1 9.75 PIK3C2A
11 Decreased viability GR00342-S-2 9.75 PIK3C2A
12 Decreased viability GR00342-S-3 9.75 PIK3C2A
13 Decreased viability GR00381-A-1 9.75 SLC5A1
14 Decreased viability GR00386-A-1 9.75 ALB GCG GLP1R PAX4 SI SLC30A8
15 Decreased viability GR00402-S-2 9.75 SLC30A8

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 ABCC8 ALB CTLA4 DPP4 GAD1 GAD2
2 growth/size/body region MP:0005378 9.77 ABCC8 DPP4 GAD1 GAD2 GLP1R INS
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 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin glargine Approved Phase 4 160337-95-1
2
Insulin glulisine Approved Phase 4 207748-29-6
3
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
4 insulin Phase 4
5 Hypoglycemic Agents Phase 4
6 Insulin, Globin Zinc Phase 4
7 Isophane insulin, beef Phase 4
8 Isophane Insulin, Human Phase 4
9 Insulin, Isophane Phase 4
10 Secretagogues Phase 4
11
Insulin lispro Approved Phase 3 133107-64-9
12
Atorvastatin Approved Phase 3 134523-00-5 60823
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
14 Anticholesteremic Agents Phase 3
15 Antimetabolites Phase 3
16 Lipid Regulating Agents Phase 3
17 Hypolipidemic Agents Phase 3
18
Ganciclovir Approved, Investigational Phase 2 82410-32-0 3454
19
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
20
Sulfamethoxazole Approved Phase 2 723-46-6 5329
21
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
22
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
23
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Pentamidine Approved, Investigational Phase 2 100-33-4 4735
26
Trimethoprim Approved, Vet_approved Phase 2 738-70-5 5578
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
28
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 70-16-6, 59-43-8 1130
29
Daclizumab Investigational, Withdrawn Phase 2 152923-56-3
30 Antibiotics, Antitubercular Phase 2
31 Immunosuppressive Agents Phase 2
32 Cytochrome P-450 Enzyme Inhibitors Phase 2
33 Folic Acid Antagonists Phase 2
34 Immunologic Factors Phase 2
35 Anti-Bacterial Agents Phase 2
36 Anti-Infective Agents Phase 2
37 Antiviral Agents Phase 2
38 Antimalarials Phase 2
39 Antiparasitic Agents Phase 2
40 Antiprotozoal Agents Phase 2
41 Calcineurin Inhibitors Phase 2
42 Ganciclovir triphosphate Phase 2
43 Antifungal Agents Phase 2
44 Vitamin B9 Phase 2
45 Trace Elements Phase 2
46 Nutrients Phase 2
47 Vitamins Phase 2
48 Vitamin B Complex Phase 2
49 Folate Phase 2
50 Thiamin Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 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
2 DirecNet Pilot Study to Evaluate the GlucoWatch G2 Biographer in the Management of Type 1 Diabetes in Children Completed NCT00069615 Phase 4
3 DirecNet Inpatient Study to Test the Accuracy of Continuous Blood Glucose Monitoring Devices in Children With Type 1 Diabetes Completed NCT00069537 Phase 4
4 Basal Insulin in the Management of Patients With Diabetic Ketoacidosis Completed NCT00590044 Phase 4 insulin glargine+ glulisine;NPH + Regular insulin
5 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
6 Management of Diabetic Ketoacidosis in Children: Does Early Glargine Prevent Rebound Hyperglycemia? Recruiting NCT03107208 Phase 4 Glargine
7 Early Basal Insulin Administration in Adult Diabetic Ketoacidosis Management Recruiting NCT04567225 Phase 4 Glargine;Glargine
8 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
9 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
10 Evaluation of the Effect of the InsuPatch Device on Insulin Pharmacokinetics in Clamp Studies Completed NCT01216618 Phase 3
11 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
12 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
13 Statins in Children With Type 1 Diabetes: Effects on Metabolism, Inflammation and Endothelial Function Completed NCT01236365 Phase 3 Atorvastatin;Atorvastatin Placebo
14 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
15 hOKT3gamma1 (Ala-Ala) for the Prevention of Human Islet Allograft Failure Unknown status NCT00008801 Phase 1, Phase 2 hOKT3gamma1 (Ala-ala)
16 Safety and Efficacy of Mesenchymal Stem Cells in Newly-diagnosed Type 1 Diabetic Patients Unknown status NCT01322789 Phase 1, Phase 2
17 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
18 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
19 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
20 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
21 Thiamine as Adjunctive Therapy for Diabetic Ketoacidosis Recruiting NCT03717896 Phase 2 200mg IV thiamine in 50mL 0.9% saline;Placebo
22 Anti-IL-1 Treatment in Children Diabetic Keto-Acidosis (DKA) at Diagnosis of Type 1 Diabetes. Withdrawn NCT01477476 Phase 2 Anakinra
23 Evaluation of Tolerability, Safety, and Pharmacokinetics of hOKT3g1 (Ala-Ala) Completed NCT00073255 Phase 1 hokt3g1 (ALA-ALA)
24 A Randomized, Double-Blinded, Placebo-controlled, Single-center Phase 1 Pilot Study to Explore the Effect of DAPAglifozin and Stress ( i.v. ACTH) on the Development of DKA After Insulin Withdrawal in Adolescent and Adult Subjects With T1D Not yet recruiting NCT04234867 Phase 1 Dapagliflozin;Placebo oral tablet
25 Compliance With American Diabetes Association Treatment Guidelines for Adult Ketoacidosis Unknown status NCT00589680
26 Measurement of the Optic Nerve Sheath Diameter by Optic Ultrasound in Diabetic Ketoacidosis and the Relationship to Cerebral Edema Unknown status NCT02130180
27 Insulin Degludec for the Management of Patient With Recurrent Diabetic Ketoacidosis Unknown status NCT03001323 Degludec;Standard long-acting
28 Electrocardiogram and Echocardiography Changes in Children With Diabetic Ketoacidosis Unknown status NCT03454152
29 Ketosis Prone Diabetes Mellitus in African-Americans: Insulin Signaling, Proteomics, and Outcomes Completed NCT00426413 pioglitazone
30 Cerebral Edema in Pediatric Diabetic Ketoacidosis Completed NCT00629707
31 The Impact of Different CSII and CGM Systems on Metabolic Control and Quality of Life in Children and Adolescents With Type 1 Diabetes. An Observational Study Form the Norwegian Childhood Diabetes Registry (NCDR) Completed NCT04201171
32 Adherence to IDDM Regimen in Urban Youth Completed NCT00372814
33 A Pilot Study of the Effect of Continuous Subcutaneous Insulin Infusion in Adolescents With Newly-diagnosed Type 1 Diabetes on Insulin Resistance, Beta-cell Function and the Honeymoon Period. Completed NCT00357890 Multiple daily injections (MDI) using insulin glargine + rapid acting analog
34 Acute Local Ischemic Preconditioning in Patients With Type 1 Diabetes in Vivo Completed NCT00184821 Diazoxide;glibenclamide;adenosine
35 Pilot Clinical Evaluation: Accuracy and Precision of the Sanvita OneTouch Real Time Continuous Glucose Monitoring System Completed NCT04205084
36 Psychosocial Issues in Insulin Pump Therapy in Children With Type 1 DM - a Randomised Controlled Trial Completed NCT01338922
37 Subject: A Blinded Randomized Trial: the Effect of Guided Imagery in Children With Type 1 Diabetes Mellitus on Glucose Levels and on Glycemic Control Completed NCT01567254
38 Evaluation of the Cerebral Edema With Measurement of Optic Nerve Sheath in Children Having Diabetic Ketoacidosis Completed NCT02937441
39 Telemedicine Monitoring of Nocturnal Incidents of Treatment-Requiring Hypoglycemia in Older Adults With Type 1 Diabetes Miletus - A Feasibility Study Completed NCT04328896
40 Use of a Flexible Catheter for the Administration of Subcutaneous Insulin in Diabetic Ketoacidosis Completed NCT03182569
41 Interest of Plasma Copeptin Levels in Management of Children With Diabetic Ketoacidosis Completed NCT02994316
42 Early Use of Insulin Glargine in Diabetic Ketoacidosis Completed NCT00179127 glargine;saline
43 Acute and Long-term Neuroanatomical and Cognitive Evaluation of Adult Patients With First and Recurrent Episodes of Diabetic Ketoacidosis Completed NCT02443415
44 Subcutaneous Aspart Insulin and Point of Care Beta Hydroxybutyrate Testing: A New Paradigm for the Management of Diabetic Ketoacidosis Completed NCT00920725 Insulin (Aspart Insulin [Novolog], Regular Insulin)
45 Effectiveness of Subcutaneous Glargine On The Time To Closure of The Anion Gap in Patients Presenting to the Emergency Department With Diabetic Keto-acidosis: A Pilot Study Completed NCT02006342 Insulin Glargine;Regular Insulin
46 Diabetic Ketoacidosis and Its Impact on Neurocognition Completed NCT01753934
47 Evaluation of a Non-invasive Brain Compliance Measurement Device Completed NCT01753921
48 Diabetic Kidney Alarm (DKA) Study - Tubulopathy in Diabetic Ketoacidosis Completed NCT03128229
49 Incidence of Diabetic Ketoacidosis Among Patients With Type 2 Diabetes Mellitus Treated With SGLT2 Inhibitors or Other Antihyperglycemic Agents- A Retrospective, Observational, New-User Cohort Study Using 4 Administrative Claims Databases in the US Completed NCT02636192 No Intervention
50 Fluid Kinetics in Patients With Diabetic Ketoacidosis Completed NCT02172092 SodiumChloride

Search NIH Clinical Center for Diabetes Mellitus, Ketosis-Prone

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Kidney, Thyroid, Pituitary, Endothelial, Pancreas, Liver, Brain

Publications for Diabetes Mellitus, Ketosis-Prone

Articles related to Diabetes Mellitus, Ketosis-Prone:

(show top 50) (show all 5841)
# Title Authors PMID Year
1
PAX4 gene variations predispose to ketosis-prone diabetes. 6 57
15509590 2004
2
HLA class II alleles specify phenotypes of ketosis-prone diabetes. 57 54 61
18316396 2008
3
Narrative review: ketosis-prone type 2 diabetes mellitus. 57 61 54
16520476 2006
4
Syndromes of ketosis-prone diabetes mellitus. 57 61
18292467 2008
5
Accuracy and predictive value of classification schemes for ketosis-prone diabetes. 61 57
17130187 2006
6
Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes. 57 61
14602731 2003
7
Diagnosis and classification of diabetes mellitus. 57
18165338 2008
8
Ketosis-prone type 2 diabetes: time to revise the classification of diabetes. 57
17130220 2006
9
Ketosis-prone diabetes--a new subgroup of patients with atypical type 1 and type 2 diabetes? 57
14602730 2003
10
Report of the expert committee on the diagnosis and classification of diabetes mellitus. 57
12502614 2003
11
Diabetes in Africans. Part 2: Ketosis-prone atypical diabetes mellitus. 57
11938022 2002
12
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. 57
9203460 1997
13
Utility of initial bolus insulin in the treatment of diabetic ketoacidosis. 54 61
18514472 2010
14
Lack of lipotoxicity effect on {beta}-cell dysfunction in ketosis-prone type 2 diabetes. 61 54
20028938 2010
15
Cerebral metabolic alterations in rats with diabetic ketoacidosis: effects of treatment with insulin and intravenous fluids and effects of bumetanide. 61 54
20028943 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. 61 54
19602154 2010
17
Relapse of diabetic ketoacidosis secondary to insulin pump malfunction diagnosed by capillary blood 3-hydroxybutyrate: a case report. 61 54
19918445 2009
18
Insulin analogs versus human insulin in the treatment of patients with diabetic ketoacidosis: a randomized controlled trial. 61 54
19366972 2009
19
Insulin requirement in preschoolers treated with insulin pumps at the onset of type 1 diabetes mellitus. 61 54
19021593 2009
20
Is subcutaneous administration of rapid-acting insulin as effective as intravenous insulin for treating diabetic ketoacidosis? 61 54
19177639 2009
21
Diabetic ketoacidosis caused by exposure of insulin pump to heat and sunlight. 61 54
19124546 2009
22
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
23
Is a priming dose of insulin necessary in a low-dose insulin protocol for the treatment of diabetic ketoacidosis? 61 54
18694978 2008
24
New-onset diabetes in an obese adolescent: diagnostic dilemmas. 61 54
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. 61 54
17908670 2007
28
Insulin gene mutations as a cause of permanent neonatal diabetes. 61 54
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. 61 54
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
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. 61 54
17090641 2007
34
[Case of fulminant type 1 diabetes mellitus complicated with acute renal failure treated with continuous hemodiafiltration]. 61 54
17315734 2007
35
[Diabetic ketoacidosis responsive to methotrexate in a patient with a mixed connective tissue disease]. 61 54
17369988 2007
36
[Treatment of type 1 diabetes mellitus revealed below 7 years of age in the Diabetes Center of Silesia, Poland]. 54 61
17880811 2007
37
Metabolic control with insulin pump therapy: the Waikato experience. 61 54
17277817 2007
38
Evolution of a diabetes inpatient safety committee. 61 54
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. 61 54
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]. 61 54
16513058 2006
43
Early detection of insulin deprivation in continuous subcutaneous insulin infusion-treated patients with type 1 diabetes. 61 54
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. 61 54
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. 61 54
16043723 2005
48
Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion. 61 54
15869925 2005
49
Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy. 61 54
15983674 2005
50
CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians. 61 54
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 Position
1 PAX4 NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) SNV risk factor 13792 rs35155575 GRCh37: 7:127255466-127255466
GRCh38: 7:127615412-127615412
2 PAX4 NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) SNV risk factor 13791 rs2233578 GRCh37: 7:127254551-127254551
GRCh38: 7:127614497-127614497

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

72
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 SLC5A4 SLC5A2 SLC5A1 SI PIK3C2A KCNJ11
2
Show member pathways
13.15 SLC5A4 SLC5A2 SLC5A1 SLC30A8 KCNJ11 ALB
3
Show member pathways
12.62 KCNJ11 INS GLP1R GCG ALB ABCC8
4
Show member pathways
12.6 PTPRN INS GAD2 GAD1 CTLA4
5
Show member pathways
11.97 SLC30A8 INS GCG DPP4
6
Show member pathways
11.92 KCNJ11 INS GLP1R GCG ABCC8
7 11.92 SLC5A2 SLC5A1 INS GCG GAD2 GAD1
8
Show member pathways
11.69 SLC5A4 SLC5A2 SLC5A1
9
Show member pathways
11.54 PIK3C2A KCNJ11 INS ABCC8
10 10.75 GAD2 GAD1
11
Show member pathways
10.61 GAD2 GAD1
12 10.57 KCNJ11 INS ALB ABCC8
13 10.47 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 9.56 SLC30A8 SLC30A10 SI PTPRN PIK3C2A GAD2
2 plasma membrane GO:0005886 9.5 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 SI
3 inhibitory synapse GO:0060077 9.32 GAD2 GAD1
4 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.26 GAD2 GAD1
5 inward rectifying potassium channel GO:0008282 9.16 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 KCNJ11
2 response to drug GO:0042493 9.72 PAX4 KCNJ11 GAD2 GAD1 ABCC8
3 transmembrane transport GO:0055085 9.5 SLC5A4 SLC5A2 SLC5A1 SLC30A8 SLC30A10 KCNJ11
4 inorganic cation transmembrane transport GO:0098662 9.48 KCNJ11 ABCC8
5 neurotransmitter biosynthetic process GO:0042136 9.46 GAD2 GAD1
6 locomotory exploration behavior GO:0035641 9.43 GAD1 DPP4
7 glucose import across plasma membrane GO:0098708 9.37 SLC5A2 SLC5A1
8 glutamate decarboxylation to succinate GO:0006540 9.26 GAD2 GAD1
9 alpha-glucoside transport GO:0000017 9.16 SLC5A2 SLC5A1
10 regulation of insulin secretion GO:0050796 9.02 KCNJ11 GLP1R 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 9.54 GAD2 GAD1 ALB
2 cation-transporting ATPase activity GO:0019829 9.43 KCNJ11 ABCC8
3 glutamate binding GO:0016595 9.4 GAD2 GAD1
4 D-glucose transmembrane transporter activity GO:0055056 9.32 SLC5A2 SLC5A1
5 ATP-activated inward rectifier potassium channel activity GO:0015272 9.26 KCNJ11 ABCC8
6 alpha-glucoside transmembrane transporter activity GO:0015151 9.16 SLC5A2 SLC5A1
7 glutamate decarboxylase activity GO:0004351 8.96 GAD2 GAD1
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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