MCID: DBT084
MIFTS: 50

Diabetes Mellitus, Ketosis-Prone

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Diabetes Mellitus, Ketosis-Prone

MalaCards integrated aliases for Diabetes Mellitus, Ketosis-Prone:

Name: Diabetes Mellitus, Ketosis-Prone 53 12 71 28 13
Diabetic Ketoacidosis 12 51 41 14 69
Ketosis-Prone Diabetes Mellitus 12 36
Kpd 53 71
Diabetes Mellitus, Ketosis-Prone, Susceptibility to 53
Diabetes Mellitus, Insulin-Dependent 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 53 612227
Disease Ontology 12 DOID:1837
ICD9CM 34 250.1
NCIt 46 C50530
KEGG 36 H01224
UMLS 69 C0011880

Summaries for Diabetes Mellitus, Ketosis-Prone

OMIM : 53 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 diabetes mellitus and cerebritis, and has symptoms including diabetes mellitus, insulin resistance and ketoacidosis. 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 Butanoate metabolism. The drugs Metformin and Dipeptidyl-Peptidase IV Inhibitors have been mentioned in the context of this disorder. Related phenotype is growth/size/body region.

UniProtKB/Swiss-Prot : 71 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 : 72 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 all 25)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 31.3 GAD1 GAD2 INS PAX4 PIK3C2A
2 cerebritis 10.5
3 hydrops, lactic acidosis, and sideroblastic anemia 10.4
4 type 1 diabetes mellitus 13 10.3 GAD2 INS
5 monocarboxylate transporter 1 deficiency 10.2 GAD1 INS
6 spastic cerebral palsy 10.2 GAD1 GAD2
7 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 GAD1 GAD2
8 prediabetes syndrome 10.2 GAD1 INS
9 limbic encephalitis 10.2 GAD1 GAD2
10 endocrine pancreas disease 10.2 INS SLC5A2
11 sarcocystosis 10.2 GAD1 PIK3C2A
12 acute pancreatitis 10.1
13 pancreatitis 10.1
14 autoimmune polyendocrine syndrome, type ii 10.0 GAD1 GAD2 INS
15 glucose metabolism disease 10.0 GAD2 INS SLC5A2
16 acquired metabolic disease 10.0 GAD2 INS SLC5A2
17 autoimmune polyendocrine syndrome 10.0 GAD1 GAD2
18 stiff-person syndrome 10.0 GAD1 GAD2 INS
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 GAD1 GAD2 INS
20 pancreas disease 10.0 INS SLC5A2
21 multiple cranial nerve palsy 9.9 BRD4 RHNO1
22 autoimmune disease 9.8 GAD1 GAD2 INS
23 hypokalemic periodic paralysis, type 1 9.7 BRD4 INS
24 diabetes mellitus, insulin-dependent 9.2 GAD1 GAD2 INS PAX4 SLC30A10
25 diabetes mellitus, noninsulin-dependent 9.1 ACACA GAD1 GAD2 INS PAX4 SLC5A2

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 via clinical synopsis from OMIM:

53
Abdomen Pancreas:
beta-cell dysfunction of varying degrees

Immunology:
autoimmunity to pancreatic beta cells (rare)

Metabolic Features:
ketoacidosis
insulin resistance, variable


Clinical features from OMIM:

612227

Human phenotypes related to Diabetes Mellitus, Ketosis-Prone:

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

UMLS symptoms related to Diabetes Mellitus, Ketosis-Prone:


polydipsia, polyuria

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.17 SLC5A2 ACACA GAD1 GAD2 INS PAX4

Drugs & Therapeutics for Diabetes Mellitus, Ketosis-Prone

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2 Dipeptidyl-Peptidase IV Inhibitors Phase 4
3 HIV Protease Inhibitors Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Hypoglycemic Agents Phase 4
8 Incretins Phase 4
9 insulin Phase 4
10 Insulin, Globin Zinc Phase 4
11
protease inhibitors Phase 4
12 Sitagliptin Phosphate Phase 4
13
Pioglitazone Approved, Investigational 111025-46-8 4829
14 Fat Emulsions, Intravenous
15 Parenteral Nutrition Solutions
16 Pharmaceutical Solutions
17 Soybean oil, phospholipid emulsion
18 Soy Bean Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ketosis-Prone Diabetes Mellitus (KPDM): Metformin Versus Sitagliptin Treatment Completed NCT01099618 Phase 4 metformin;placebo;Sitagliptin
2 Ketosis Prone Diabetes in African-Americans Completed NCT00426413 pioglitazone
3 Mechanism Underlying Beta-cell Failure in Obese African Americans With History of Hyperglycemic Crises Completed NCT00753142 Intralipid 20%;Glucose infusion

Search NIH Clinical Center for Diabetes Mellitus, Ketosis-Prone

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 PAX4

Anatomical Context for Diabetes Mellitus, Ketosis-Prone

Publications for Diabetes Mellitus, Ketosis-Prone

Articles related to Diabetes Mellitus, Ketosis-Prone:

(show top 50) (show all 753)
# Title Authors Year
1
Dengue hemorrhagic fever complicated with transient diabetic ketoacidosis: a case report. ( 29078811 )
2017
2
Severe Hypertriglyceridemia Causing Pancreatitis in a Child with New-onset Type-I Diabetes Mellitus Presenting with Diabetic Ketoacidosis. ( 28400692 )
2017
3
Detection of h-FABP (heart-type fatty acid binding protein) Levels in Diabetic Ketoacidosis and Identification of Early Cardiac Effects of Ketoacidosis. ( 28077344 )
2017
4
An unusual manifestation of diabetic ketoacidosis and acute colonic pseudo-obstruction. ( 28620506 )
2017
5
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis. ( 28831725 )
2017
6
Pancreatic Panniculitis Sans Pancreatitis in a Patient with Diabetic Ketoacidosis. ( 28733691 )
2017
7
Nephrolithiasis: A complication of pediatric diabetic ketoacidosis. ( 28737266 )
2017
8
Diabetic ketoacidosis in acromegaly; a rare complication precipitated by corticosteroid use. ( 28951345 )
2017
9
Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy. ( 28588004 )
2017
10
Thyroid Storm Precipitated by Diabetic Ketoacidosis and Influenza A: A Case Report and Literature Review. ( 28090049 )
2017
11
Euglycemic Diabetic Ketoacidosis with Persistent Diuresis Treated with Canagliflozin. ( 28090050 )
2017
12
Haemophilus influenzae Pyomyositis in a Patient with Diabetic Ketoacidosis: A Unique Case and Review of Literature. ( 28352482 )
2017
13
Diabetic ketoacidosis by empaglifozin and intestinal obstruction. The importance of arterial blood gas analysis. ( 29196038 )
2017
14
Euglycemic Diabetic Ketoacidosis Accompanied by Severe Hypophosphatemia During Recovery in a Patient With Type 2 Diabetes Being Treated With Canagliflozin/Metformin Combination Therapy. ( 29109617 )
2017
15
Predictors of Recurrent Hospital Admission for Patients Presenting With Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State. ( 27924173 )
2017
16
Controlled trial of Hartmann's solution versus 0.9% saline for diabetic ketoacidosis. ( 28070957 )
2017
17
Case of diabetic ketoacidosis as an initial presentation of Cushing's syndrome. ( 28458895 )
2017
18
Factors Associated with the Presence and Severity of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Korean Children and Adolescents. ( 28049242 )
2017
19
Treatment with the KCa3.1 inhibitor TRAM-34 during diabetic ketoacidosis reduces inflammatory changes in the brain. ( 27174668 )
2016
20
Corneal hydrops induced by diabetic ketoacidosis: A case report. ( 27602094 )
2016
21
Pituitary apoplexy presenting as diabetic ketoacidosis: A great simulator? Case Report. ( 26994379 )
2016
22
Substantial reduction in hospital stay of children and adolescents with diabetic ketoacidosis after implementation of Clinical Practice Guidelines in a university hospital in Saudi Arabia. ( 27896902 )
2016
23
Diabetic Ketoacidosis without Diabetes. ( 27636019 )
2016
24
Long-Acting Insulin on the Road to Recovery With Diabetic Ketoacidosis. ( 27134235 )
2016
25
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. ( 27112737 )
2016
26
Thyroid storm presenting as psychosis: masked by diabetic ketoacidosis. ( 27609719 )
2016
27
Diabetic ketoacidosis in vanishing white matter. ( 27525068 )
2016
28
Stroke in Pediatric Diabetic Ketoacidosis: Case Series. ( 28013254 )
2016
29
Non-occlusive Mesenteric Ischemia with Diabetic Ketoacidosis and Lactic Acidosis Following the Administration of a Sodium Glucose Co-transporter 2 Inhibitor. ( 27374678 )
2016
30
ISMP Adverse Drug Reactions: Chronic Marijuana Use Associated With Recurrent Diabetic Ketoacidosis Lamotrigine-Induced Cataplexy Trimethoprim-Sulfamethoxazole-Induced Hyponatremia Ziprasidone-Induced Sleepwalking and Sleep-Related Eating Metabolic Acidosis Associated With Acetaminophen. ( 27928184 )
2016
31
Euglycaemic diabetic ketoacidosis in a patient with type 2 diabetes started on empagliflozin. ( 27177938 )
2016
32
Elevated Leukocyte Azurophilic Enzymes in Human Diabetic Ketoacidosis Plasma Degrade Cerebrovascular Endothelial Junctional Proteins. ( 27071071 )
2016
33
SGLT2 Inhibitor-associated Diabetic Ketoacidosis: Clinical Review and Recommendations for Prevention and Diagnosis. ( 28003053 )
2016
34
High frequency of diabetic ketoacidosis at diagnosis of type 1 diabetes in Italian children: a nationwide longitudinal study, 2004-2013. ( 27991500 )
2016
35
Interprofessional, multiple step simulation course improves pediatric resident and nursing staff management of pediatric patients with diabetic ketoacidosis. ( 27896145 )
2016
36
Risk factors for recurrent diabetic ketoacidosis. ( 27627875 )
2016
37
Euglycemic Diabetic Ketoacidosis in a Patient with Cocaine Intoxication. ( 27579186 )
2016
38
DIABETIC KETOACIDOSIS CRITICAL CARE PATHWAY IMPLEMENTATION: INCORPORATION INTO EMR SIGNIFICANTLY DECREASES LENGTH OF STAY. ( 27176140 )
2016
39
Risk factors and predictors of uncontrolled hyperglycemia and diabetic ketoacidosis in type 1 diabetic children and adolescents, in Jeddah, Western Saudi Arabia. ( 27043144 )
2016
40
Euglycemic Diabetic Ketoacidosis. ( 27097605 )
2016
41
Testicular failure following severe diabetic ketoacidosis complicated by hypotensive shock. ( 27099736 )
2016
42
A unified Hyperglycemia and Diabetic ketoacidosis (DKA) insulin infusion protocol based on an Excel algorithm and implemented via Electronic Medical Record (EMR) in Intensive Care Units. ( 27658894 )
2016
43
A Pediatric Diabetic Ketoacidosis Management Protocol Incorporating a Two-Bag Intravenous Fluid System Decreases Duration of Intravenous Insulin Therapy. ( 28018153 )
2016
44
Diabetic Ketoacidosis Among Patients Treated With Continuous Subcutaneous Insulin Infusion. ( 27595713 )
2016
45
Severe Acute Necrotizing Pancreatitis in a Patient with Diabetic Ketoacidosis. ( 27103049 )
2016
46
Diabetic ketoacidosis associated to canagliflozin in type 2 diabetes. ( 28041622 )
2016
47
Prognostic Factors in Patients Hospitalized with Diabetic Ketoacidosis. ( 27586452 )
2016
48
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT ON THE ASSOCIATION OF SGLT-2 INHIBITORS AND DIABETIC KETOACIDOSIS. ( 27082665 )
2016
49
Serum Levels of Neuron-Specific Enolase in Children With Diabetic Ketoacidosis. ( 28056586 )
2016
50
Superior Mesenteric Artery Syndrome Complicated by Diabetic Ketoacidosis and Graves' Disease in Slowly Progressive Insulin Dependent Diabetes Mellitus (SPIDDM): A Case Report and a Review of the Literature. ( 27477411 )
2016

Variations for Diabetes Mellitus, Ketosis-Prone

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

71
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 GAD1 GAD2 PAX4
2 epidermal growth factor receptor signaling pathway GO:0007173 9.43 PIK3C2A SLC30A10
3 neurotransmitter secretion GO:0007269 9.37 GAD1 GAD2
4 positive regulation of cell differentiation GO:0045597 9.32 INS PAX4
5 carboxylic acid metabolic process GO:0019752 9.26 GAD1 GAD2
6 neurotransmitter biosynthetic process GO:0042136 9.16 GAD1 GAD2
7 negative regulation of reactive oxygen species biosynthetic process GO:1903427 8.96 INS SLC30A10
8 glutamate decarboxylation to succinate GO:0006540 8.62 GAD1 GAD2

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 9.26 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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