KPD
MCID: DBT084
MIFTS: 47

Diabetes Mellitus, Ketosis-Prone (KPD) malady

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Diabetes Mellitus, Ketosis-Prone

Aliases & Descriptions for Diabetes Mellitus, Ketosis-Prone:

Name: Diabetes Mellitus, Ketosis-Prone 54 12 66 13
Diabetic Ketoacidosis 12 52 42 14 69
Ketosis-Prone Diabetes Mellitus 12 29
Diabetes Mellitus, Insulin-Dependent 69
Kpd 66

Characteristics:

HPO:

32
diabetes mellitus, ketosis-prone:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 54 612227
Disease Ontology 12 DOID:1837
ICD9CM 35 250.1
NCIt 47 C50530
MedGen 40 C0743110
UMLS 69 C0011880

Summaries for Diabetes Mellitus, Ketosis-Prone

OMIM : 54 In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen,... (612227) more...

MalaCards based summary : Diabetes Mellitus, Ketosis-Prone, also known as diabetic ketoacidosis, is related to protein s deficiency and cerebritis, and has symptoms including diabetes mellitus, autoimmunity and insulin resistance. An important gene associated with Diabetes Mellitus, Ketosis-Prone is PAX4 (Paired Box 4), and among its related pathways/superpathways are Glucose / Energy Metabolism and MECP2 and Associated Rett Syndrome. The drugs Insulin Detemir and Insulin Glargine have been mentioned in the context of this disorder. Related phenotypes are growth/size/body region and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 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 : 71 Ketosis-prone diabetes or KPD is an intermediate form of diabetes that has some characteristics of type... 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 179)
id Related Disease Score Top Affiliating Genes
1 protein s deficiency 29.5 INS SST
2 cerebritis 10.4
3 pancreatitis 10.2
4 breast cancer 10.2 GAD2 INS
5 deafness, autosomal recessive 29 10.2 GAD1 GAD2
6 chudley-mccullough syndrome 10.2 GAD1 INS
7 mixed cerebral palsy 10.2 GAD1 GAD2
8 lipedematous scalp 10.2 GAD1 GAD2
9 hyperlipoproteinemia type iv 10.1 GAD1 INS
10 metabolic acidosis 10.1
11 paranasal sinus cancer, adult 10.1 INS SST
12 choline deficiency disease 10.1 INS SST
13 shaken baby syndrome 10.1 INS SST
14 brain ependymoma 10.1 INS SST
15 peripheral degeneration of cornea 10.1 INS SST
16 spinal stenosis 10.1 INS SST
17 triphalangeal thumbs and dislocation of patella 10.1 GAD1 GAD2 INS
18 phaeohyphomycosis 10.1 GAD1 GAD2
19 atrial tachyarrhythmia with short pr interval 10.1 GAD1 GAD2 INS
20 denys-drash syndrome 10.1 GAD1 GAD2 INS
21 acute pyelonephritis 10.1 INS SST
22 maturity-onset diabetes of the young, type 13 10.1 INS SST
23 acute pancreatitis 10.1
24 keloids 10.1 INS SST
25 hyperglycemia 10.1
26 merkel cell carcinoma 10.1 INS SST
27 inflammatory diarrhea 10.0 SST XK
28 acromegaly 10.0
29 hypertriglyceridemia 10.0
30 red cell phospholipid defect with hemolysis 10.0 GAD1 SST
31 diabetic cataract 10.0 INS SST
32 malignant hyperthermia susceptibility 5 10.0 INS XK
33 urethra clear cell adenocarcinoma 10.0 INS SST
34 hypoglycemia 10.0
35 hypokalemia 10.0
36 neurogenic arthropathy 10.0 INS SLC5A2 SST
37 chondroma 10.0 INS SLC5A2 SST
38 brain stem glioma 10.0 INS SLC5A2 SST
39 hypophosphatemia 10.0
40 thrombosis 9.9
41 thyroiditis 9.9
42 adrenal cortical adenocarcinoma 9.9 INS SST
43 neuronitis 9.9
44 lactic acidosis 9.9
45 brain edema 9.9
46 obesity 9.9
47 methylmalonic acidemia 9.9
48 hepatitis 9.9
49 peroneal neuropathy 9.9 GAD2 INS SLC5A2 SST
50 body dysmorphic disorder 9.9 GAD2 INS SLC5A2 SST

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


Acute Cystitis Decubitus Ulcer
Heart Disease Hypertension, Essential
Ischemic Heart Disease

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

Symptoms by clinical synopsis from OMIM:

612227

Clinical features from OMIM:

612227

Human phenotypes related to Diabetes Mellitus, Ketosis-Prone:

32
id Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 autoimmunity 32 HP:0002960
3 insulin resistance 32 HP:0000855
4 ketoacidosis 32 HP:0001993
5 beta-cell dysfunction 32 HP:0006279

UMLS symptoms related to Diabetes Mellitus, Ketosis-Prone:


polyuria, polydipsia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 PAX4 SLC5A2 SST ACACA GAD1 GAD2
2 homeostasis/metabolism MP:0005376 9.56 ACACA GAD1 GAD2 INS PAX4 SLC5A2
3 no phenotypic analysis MP:0003012 9.02 GAD1 GAD2 INS SLC5A2 SST

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 578)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Detemir Approved Phase 4,Phase 3,Phase 2,Phase 1 169148-63-4 5311023
2
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1 160337-95-1
3
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
4
Liraglutide Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 204656-20-2
5
Pancrelipase Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53608-75-6
6
rituximab Approved Phase 4,Phase 1,Phase 2 174722-31-7 10201696
7
Febuxostat Approved Phase 4 144060-53-7 134018
8
Nitric Oxide Approved Phase 4 10102-43-9 145068
9
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
10
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Phase 1 116094-23-6 16132418
11
Insulin Lispro Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 133107-64-9
12
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2,Phase 1 207748-29-6
13
Diazoxide Approved Phase 4 364-98-7 3019
14
Glyburide Approved Phase 4,Phase 2,Phase 3 10238-21-8 3488
15
Candesartan Approved Phase 4,Phase 3 139481-59-7 2541
16
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 5754 657311
17
Metformin Approved Phase 4,Phase 3,Phase 2,Early Phase 1 657-24-9 14219 4091
18
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 141758-74-9 15991534
19
Pramlintide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 151126-32-8
20
Vildagliptin Approved, Investigational Phase 4,Phase 3,Phase 2 274901-16-5 6918537
21
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
22
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 104987-11-3 445643 439492
23
Glipizide Approved Phase 4 29094-61-9 3478
24
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
25
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
26
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
27
Ziprasidone Approved Phase 4 146939-27-7 60854
28
Aspirin Approved, Vet_approved Phase 4,Phase 2 50-78-2 2244
29
Adenosine Approved, Investigational Phase 4 58-61-7 60961
30
Regadenoson Approved Phase 4 313348-27-5 219024
31
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
32
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
33
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
34
Norepinephrine Approved Phase 4 51-41-2 439260
35
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
36
Saxagliptin Approved Phase 4,Phase 3,Phase 2 361442-04-8 11243969
37
Ethanol Approved Phase 4,Phase 2,Phase 1,Early Phase 1 64-17-5 702
38
Allopurinol Approved Phase 4,Phase 3 315-30-0 2094
39
Acetaminophen Approved Phase 4,Phase 2,Phase 1 103-90-2 1983
40
alemtuzumab Approved, Investigational Phase 4,Phase 1,Phase 2 216503-57-0
41
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
42
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
43
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
44
Gliclazide Approved Phase 4 21187-98-4 3475
45
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
46
Diphenhydramine Approved Phase 4 58-73-1, 147-24-0 3100
47
Promethazine Approved Phase 4 60-87-7 4927
48
Inulin Approved, Nutraceutical Phase 4,Early Phase 1 9005-80-5 24763
49
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
50
Vitamin C Approved, Nutraceutical Phase 4,Phase 1 50-81-7 5785 54670067

Interventional clinical trials:

(show top 50) (show all 2100)
id Name Status NCT ID Phase
1 Comparing Long-acting Insulins During Exercise in Type 1 Diabetes Unknown status NCT01440439 Phase 4
2 52 Week Trial of Liraglutide in Type 1 Diabetes Unknown status NCT01787916 Phase 4
3 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
4 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
5 Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4
6 Treatment of Low Blood Sugar With Glucagon Among Patients With Type 1 Diabetes Unknown status NCT02232971 Phase 4
7 The Effect of Uric Acid Lowering in Type 1 Diabetes Unknown status NCT02344602 Phase 4
8 CONSISTENT 1: Metabolic and Safety Outcomes of Hylenex Recombinant (Hyaluronidase Human Injection) Preadministered at CSII Infusion Site in Participants With Type 1 Diabetes Mellitus (T1DM) Unknown status NCT01848990 Phase 4
9 Timing of Initiation of Continuous Glucose Monitoring in Established Pediatric Diabetes (The CGM TIME Trial) Unknown status NCT01295788 Phase 4
10 Basal Analog Study - Comparison of Lantus or Levemir With NPH Insulin From T1DM Diagnosis Unknown status NCT01271517 Phase 4
11 Real-Time Continuous Glucose Monitoring in Pre-School Children With Type-1 Diabetes Mellitus Unknown status NCT01016457 Phase 4
12 Use of Diazoxide in Acute Hypoglycaemia Unknown status NCT01488136 Phase 4
13 Dapagliflozin in Type 1 Diabetes Unknown status NCT02211742 Phase 4
14 A Crossover Study With Hexalacton in Patients With Type 1 Diabetes and Microalbuminuria Unknown status NCT00843388 Phase 4
15 Psychosocial Issues in Insulin Pump Therapy in Children With Type 1 DM Unknown status NCT01338922 Phase 4
16 Do Sulphonylureas Preserve Cortical Function During Hypoglycaemia? Unknown status NCT00472875 Phase 4
17 Diabetes Type 1, Treatment Study Atacand/Placebo After Kidney Biopsy Unknown status NCT00328302 Phase 4
18 Insulin NovoRapid Versus Actrapid in Treatment of Type 1 Diabetic Patients During Daily Adjustment of Insulin Dose Unknown status NCT00145353 Phase 4
19 Obtain a Good Blood Glucose Control With the Paradigm Real Time System Unknown status NCT00441129 Phase 4
20 GLP-1 Analogue Treatment in Uncontrolled Type 1 Diabetic Patients Unknown status NCT01592279 Phase 4
21 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
22 Liraglutide Actions on the Liver: Effects on Glucose Phosphorylation Unknown status NCT02198209 Phase 4
23 Basal Insulin in the Management of Patients With Diabetic Ketoacidosis (DKA) Completed NCT00590044 Phase 4
24 Combination of Sulfonylureas and Insulin Glargine Outpatient Therapy for Unstable Diabetes and Impending DKA Completed NCT00732524 Phase 4
25 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
26 The Effect of Supplementation With Two Different Doses of Vitamin D on Bone Mineral Density, Vitamin D Levels and Hand Grip Strength in Children With Diabetes Mellitus Type 1 Completed NCT01277913 Phase 4
27 Glucose and Lipid Metabolism on Antipsychotic Medication Completed NCT00515723 Phase 4
28 Large Simple Trial (LST) Of Cardiovascular Safety Of Ziprasidone And Olanzapine- (Zodiac) Completed NCT00418171 Phase 4
29 Ketosis-Prone Diabetes Mellitus (KPDM): Metformin Versus Sitagliptin Treatment Completed NCT01099618 Phase 4
30 The Effects of Regular Home Use Vs Diabetic Team- Supported Use of the Medtronic CareLink Therapy Management System. Completed NCT00814476 Phase 4
31 SWITCH - Sensing With Insulin Pump Therapy to Control HbA1c Completed NCT00598663 Phase 4
32 Study to Estimate the Effects of Inhaled Versus Intravenous (IV) Infusion of Human Insulin in Subjects With Type 1 Diabetes Completed NCT00315952 Phase 4
33 Clinical Trial of Efficiency and Safety of Subetta in the Combined Treatment of Patients With Type I Diabetes Mellitus Completed NCT01868594 Phase 4
34 Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes Completed NCT00978796 Phase 4
35 Comparison Between GLP 1 Analogues and DPP 4 Inhibitors in Type 1 Diabetes Mellitus Completed NCT01235819 Phase 4
36 Efficacy of Diazoxide in Type 1 Diabetes Completed NCT00131755 Phase 4
37 Pilot Study of the GlucoWatch G2 Biographer for the Management of Type 1 Diabetes in Children Completed NCT00069615 Phase 4
38 Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus Completed NCT00442767 Phase 4
39 Liraglutide in Type 1 Diabetes Completed NCT01612468 Phase 4
40 Metabolic Effects of Accurate Blood Sugar Results and Education in Type 1 Diabetes Completed NCT00284232 Phase 4
41 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
42 A Pilot Study to Assess the Glucose Lowering Effect of Metformin and Sitagliptin in Adolescents With Type 1 Diabetes Completed NCT01718093 Phase 4
43 Effects of Aspirin Treatment on Fibrin Network Formation in Patients With Type 1 Diabetes Completed NCT01397513 Phase 4
44 Effects of Vitamin D Supplementation in Subjects With New Onset of Type 1 Diabetes Completed NCT01390480 Phase 4
45 Treatment Trial Evaluating Long Acting Insulin in Type 1 Diabetes Completed NCT00276393 Phase 4
46 Sitagliptin Dose Determination Study Completed NCT01530178 Phase 4
47 Prevention of Severe Hypoglycemia in Type 1 Diabetes Completed NCT00360984 Phase 4
48 Insulin Glulisine and Aspart in Postprandial Glycemic Control After High-GI Meal in Children With Type 1 Diabetes Mellitus Completed NCT01678235 Phase 4
49 Role of Mobile Technology to Improve Diabetes Care in Adults With Type 1 Diabetes: the REMOTE-T1D Study, a Pilot Study Completed NCT01825382 Phase 4
50 Test of the Efficacy and Safety of Insulin Glulisine Injected Subcutaneously in Patients With Type 1 Diabetes Mellitus Completed NCT00964574 Phase 4

Search NIH Clinical Center for Diabetes Mellitus, Ketosis-Prone

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: diabetic ketoacidosis

Genetic Tests for Diabetes Mellitus, Ketosis-Prone

Genetic tests related to Diabetes Mellitus, Ketosis-Prone:

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

Anatomical Context for Diabetes Mellitus, Ketosis-Prone

Publications for Diabetes Mellitus, Ketosis-Prone

Variations for Diabetes Mellitus, Ketosis-Prone

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

66
id 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

GO Terms for Diabetes Mellitus, Ketosis-Prone

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

id Name GO ID Score Top Affiliating Genes
1 inhibitory synapse GO:0060077 8.96 GAD1 GAD2
2 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

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

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.5 GAD1 GAD2 SST
2 neurotransmitter secretion GO:0007269 9.4 GAD1 GAD2
3 positive regulation of cell differentiation GO:0045597 9.37 INS PAX4
4 carboxylic acid metabolic process GO:0019752 9.26 GAD1 GAD2
5 response to drug GO:0042493 9.26 GAD1 GAD2 PAX4 SST
6 neurotransmitter biosynthetic process GO:0042136 9.16 GAD1 GAD2
7 glutamate decarboxylation to succinate GO:0006540 8.62 GAD1 GAD2

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

id Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.26 GAD1 GAD2
2 carboxy-lyase activity GO:0016831 9.16 GAD1 GAD2
3 glutamate binding GO:0016595 8.96 GAD1 GAD2
4 glutamate decarboxylase activity GO:0004351 8.62 GAD1 GAD2

Sources for Diabetes Mellitus, Ketosis-Prone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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