IDDM2
MCID: DBT040
MIFTS: 43

Diabetes Mellitus, Insulin-Dependent, 2 (IDDM2) malady

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

Aliases & Classifications for Diabetes Mellitus, Insulin-Dependent, 2

Aliases & Descriptions for Diabetes Mellitus, Insulin-Dependent, 2:

Name: Diabetes Mellitus, Insulin-Dependent, 2 54 66 13 69
Insulin-Dependent Diabetes Mellitus 2 12 29
Type 1 Diabetes Mellitus 2 12 14
Iddm2 12 66

Characteristics:

HPO:

32
diabetes mellitus, insulin-dependent, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 125852
Disease Ontology 12 DOID:0110741
ICD10 33 E10
MedGen 40 C1852092
MeSH 42 D003922

Summaries for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot : 66 Diabetes mellitus, insulin-dependent, 2: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

MalaCards based summary : Diabetes Mellitus, Insulin-Dependent, 2, also known as insulin-dependent diabetes mellitus 2, is related to breast fibroadenoma and maturity-onset diabetes of the young, type 13, and has symptoms including type i diabetes mellitus An important gene associated with Diabetes Mellitus, Insulin-Dependent, 2 is INS (Insulin), and among its related pathways/superpathways are Type II diabetes mellitus and NF-kappaB Signaling. The drugs Pancrelipase and Zinc have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are digestive/alimentary and liver/biliary system

Disease Ontology : 12 A type 1 diabetes mellitus that has material basis in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5.

Description from OMIM: 125852

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 2

Diseases in the Diabetes Mellitus, Insulin-Dependent family:

Diabetes Mellitus, Insulin-Dependent, 19 Diabetes Mellitus, Insulin-Dependent, 7
Diabetes Mellitus, Insulin-Dependent, 12 Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 22 Diabetes Mellitus, Insulin-Dependent, 23
Diabetes Mellitus, Insulin-Dependent, 18 Diabetes Mellitus, Insulin-Dependent, 15
Diabetes Mellitus, Insulin-Dependent, 21 Diabetes Mellitus, Insulin-Dependent, 5
Diabetes Mellitus, Insulin-Dependent, 8 Diabetes Mellitus, Insulin-Dependent, 24
Diabetes Mellitus, Insulin-Dependent, 17 Diabetes Mellitus, Insulin-Dependent, 2
Diabetes Mellitus, Insulin-Dependent, 4 Diabetes Mellitus, Insulin-Dependent, 20
Diabetes Mellitus, Insulin-Dependent, 11 Diabetes Mellitus, Insulin-Dependent, 3
Diabetes Mellitus, Insulin-Dependent, 6

Diseases related to Diabetes Mellitus, Insulin-Dependent, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 breast fibroadenoma 10.2 IGF2 INS
2 maturity-onset diabetes of the young, type 13 10.2 IGF2 INS
3 keloids 10.1 IGF2 INS
4 rapp-hodgkin syndrome 10.1 IGF2 INS
5 fetal warfarin syndrome 10.1 IGF2 INS
6 brucella canis brucellosis 10.1 IGF2 INS
7 diabetic cataract 10.1 IGF2 INS
8 gerstmann syndrome 10.1 IGF2 INS
9 neurogenic arthropathy 10.1 IGF2 INS
10 chondroma 10.1 IGF2 INS
11 immunodeficiency, common variable, 5 10.1 FGF3 GIMAP5
12 thrombophilia 10.0 IGF2 INS
13 pleuropulmonary blastoma 10.0 CTLA4 INS
14 breast cancer 10.0 CTLA4 INS
15 complement component 8 deficiency 10.0 CTLA4 PTPN22
16 janus kinase-3 deficiency 9.9 CTLA4 PTPN22
17 periodontosis 9.9 CTLA4 PTPN22
18 hypermobility syndrome 9.8 CTLA4 PTPN22
19 denys-drash syndrome 9.8 CTLA4 INS PTPN22
20 prostatic urethral cancer 9.8 CTLA4 INS PTPN22
21 articulation disorder 9.8 CTLA4 INS PTPN22
22 hyperglycemia 9.8
23 lymphopenia 9.8
24 nail disorder, nonsyndromic congenital, 7 9.8 CTLA4 PTPN22
25 celiac disease 3 9.8 CTLA4 FGF3 INS
26 diabetes mellitus, insulin-dependent, 8 9.8 CTLA4 FGF3 INS
27 glomangiomyoma 9.8 CTLA4 INS
28 diabetes mellitus, insulin-dependent, 20 9.6 CTLA4 IGF2 INS PTPN22
29 neutral lipid storage disease with myopathy 9.1 CTLA4 FGF3 GIMAP5 IGF2 INS INS-IGF2

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Dependent, 2:



Diseases related to Diabetes Mellitus, Insulin-Dependent, 2

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Dependent, 2

Symptoms by clinical synopsis from OMIM:

125852

Clinical features from OMIM:

125852

Human phenotypes related to Diabetes Mellitus, Insulin-Dependent, 2:

32
id Description HPO Frequency HPO Source Accession
1 type i diabetes mellitus 32 HP:0100651

MGI Mouse Phenotypes related to Diabetes Mellitus, Insulin-Dependent, 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 CTLA4 IGF2 INS PTPN22
2 liver/biliary system MP:0005370 8.92 CTLA4 IGF2 INS PTPN22

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Dependent, 2

Drugs for Diabetes Mellitus, Insulin-Dependent, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 514)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53608-75-6
2
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1 7440-66-6 32051 23994
3
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Phase 1 116094-23-6 16132418
4
Insulin Lispro Approved Phase 4,Phase 2,Phase 3,Phase 1 133107-64-9
5
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2,Phase 1 207748-29-6
6
Diazoxide Approved Phase 4 364-98-7 3019
7
Insulin Detemir Approved Phase 4,Phase 3,Phase 2,Phase 1 169148-63-4 5311023
8
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1 160337-95-1
9
rituximab Approved Phase 4,Phase 1,Phase 2 174722-31-7 10201696
10
Liraglutide Approved Phase 4,Phase 2,Phase 3,Phase 1 204656-20-2
11
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
12
Metformin Approved Phase 4,Phase 3,Phase 2,Early Phase 1 657-24-9 14219 4091
13
Vildagliptin Approved, Investigational Phase 4,Phase 2 274901-16-5 6918537
14
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
15
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-23-7 5754 657311
16
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 104987-11-3 445643 439492
17
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
18
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
19
Norepinephrine Approved Phase 4 51-41-2 439260
20
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
21
Aspirin Approved, Vet_approved Phase 4,Phase 2 50-78-2 2244
22
Adenosine Approved, Investigational Phase 4 58-61-7 60961
23
Regadenoson Approved Phase 4 313348-27-5 219024
24
Ethanol Approved Phase 4,Phase 2,Early Phase 1 64-17-5 702
25
Acetaminophen Approved Phase 4,Phase 2,Phase 1 103-90-2 1983
26
alemtuzumab Approved, Investigational Phase 4,Phase 1,Phase 2 216503-57-0
27
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
28
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
29
Gliclazide Approved Phase 4 21187-98-4 3475
30
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
31
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
32
Diphenhydramine Approved Phase 4 58-73-1, 147-24-0 3100
33
Promethazine Approved Phase 4 60-87-7 4927
34
Allopurinol Approved Phase 4 315-30-0 2094
35
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 67-97-0 6221 10883523 5280795
36
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
37
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 11103-57-4, 68-26-8 445354
38
Uric Acid Experimental, Investigational Phase 4 69-93-2 1175
39 gastric inhibitory polypeptide Phase 4,Phase 1,Phase 2
40 glucagon Phase 4,Phase 2,Phase 3,Phase 1
41 Glucagon-Like Peptide 1 Phase 4,Phase 2,Phase 3,Phase 1
42 Hormones Phase 4,Phase 2,Phase 3,Phase 1
43 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
44 Incretins Phase 4,Phase 2,Phase 3,Phase 1
45 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 pancreatin Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
48 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
49 Insulin degludec, insulin aspart drug combination Phase 4,Phase 3,Phase 2,Phase 1
50 Insulin, Long-Acting Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1295)
id Name Status NCT ID Phase
1 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
2 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
3 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
4 Psychosocial Issues in Insulin Pump Therapy in Children With Type 1 DM Unknown status NCT01338922 Phase 4
5 Dapagliflozin in Type 1 Diabetes Unknown status NCT02211742 Phase 4
6 Use of Diazoxide in Acute Hypoglycaemia Unknown status NCT01488136 Phase 4
7 Comparing Long-acting Insulins During Exercise in Type 1 Diabetes Unknown status NCT01440439 Phase 4
8 Treatment of Low Blood Sugar With Glucagon Among Patients With Type 1 Diabetes Unknown status NCT02232971 Phase 4
9 Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4
10 Liraglutide Actions on the Liver: Effects on Glucose Phosphorylation Unknown status NCT02198209 Phase 4
11 A Crossover Study With Hexalacton in Patients With Type 1 Diabetes and Microalbuminuria Unknown status NCT00843388 Phase 4
12 Pilot Study of the GlucoWatch G2 Biographer for the Management of Type 1 Diabetes in Children Completed NCT00069615 Phase 4
13 Continuous Glucose Monitors for Children With Diabetes Mellitus Completed NCT00069537 Phase 4
14 Randomized Clinical Trial to Assess the Effectiveness of the GlucoWatch Biographer Completed NCT00069628 Phase 4
15 Randomized, Double Blind, 2 Way Crossover Study of CSII With, Versus Without, Pretreatment With Human Hyaluronidase Completed NCT01526733 Phase 4
16 A Study for Patients With Diabetes Mellitus (IOPA) Completed NCT00420095 Phase 4
17 Rosiglitazone and Insulin in T1DM Adolescents Completed NCT00372086 Phase 4
18 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
19 Evaluation of Efficacy and Safety of Vardenafil in Patients With Erectile Dysfunction and Type 1 Diabetes Completed NCT00660998 Phase 4
20 Efficacy and Safety of Insulin Aspart in Subjects With Type 1 or Type 2 Diabetes Completed NCT00593255 Phase 4
21 Effects of Vitamin D Supplementation in Subjects With New Onset of Type 1 Diabetes Completed NCT01390480 Phase 4
22 Comparison of Insulin Detemir and Insulin Aspart in 2 Separate Injections Twice Daily to Extemporaneous Mixing Injection Regimen Twice Daily - The Paediatric Mixing Trial Completed NCT00542620 Phase 4
23 Feasibility Study for Training Pump Naïve Subjects To Use The Paradigm® System And Evaluate Effectiveness Completed NCT00530023 Phase 4
24 Safety and Efficacy of Insulin Aspart in Children With Type 1 Diabetes Completed NCT01467141 Phase 4
25 A Study on the Effect of 2 Pen Devices on HbA1c Completed NCT00985712 Phase 4
26 Influence of Diabetes on Tramadol Pharmacokinetics Completed NCT02246712 Phase 4
27 Comparing the Metabolic Control of Once to Twice-daily Insulin Detemir Injections Completed NCT00542399 Phase 4
28 Observational Study of Patients Using NovoMix® 30 or Levemir® for Treatment of Type 1 or Type 2 Diabetes Completed NCT00665093 Phase 4
29 Ketosis-Prone Diabetes Mellitus (KPDM): Metformin Versus Sitagliptin Treatment Completed NCT01099618 Phase 4
30 NovoLog Observation Trial in Subjects With Type 1 and Type 2 Diabetes Completed NCT00095446 Phase 4
31 Effects of Aspirin Treatment on Fibrin Network Formation in Patients With Type 1 Diabetes Completed NCT01397513 Phase 4
32 Comparison of Glycemic Control Achieved With 2 Different Needles Completed NCT00572052 Phase 4
33 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
34 Treatment Effects of Atorvastatin on Hemostasis and Skin Microcirculation in Patients With Type 1 Diabetes Completed NCT01497912 Phase 4
35 Study to Estimate the Effects of Inhaled Versus Intravenous (IV) Infusion of Human Insulin in Subjects With Type 1 Diabetes Completed NCT00315952 Phase 4
36 Comparison of Insulins Aspart and Lispro in Insulin Pumps Completed NCT00461331 Phase 4
37 Regadenoson Blood Flow in Type 1 Diabetes (RABIT1D) Completed NCT01019486 Phase 4
38 Effect of Immediate Hemoglobin A1c on Glycemic Control in Children With Type I Diabetes Mellitus Completed NCT00898534 Phase 4
39 Assessing Continuous Glucose Monitors in Healthy Children Completed NCT00069602 Phase 4
40 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
41 Liraglutide in Type 1 Diabetes Completed NCT01612468 Phase 4
42 Sitagliptin Dose Determination Study Completed NCT01530178 Phase 4
43 The Effect of Metformin in Overweight Patients With Dysregulated Type 1 Diabetes Mellitus Completed NCT00145379 Phase 4
44 Test of the Efficacy and Safety of Insulin Glulisine Injected Subcutaneously in Patients With Type 1 Diabetes Mellitus Completed NCT00964574 Phase 4
45 Efficacy of Coordinated Insulin Boluses in Type 1 Diabetic Patients Completed NCT02229097 Phase 4
46 Pharmacokinetics of IAsp Following CSII in Patients With T1DM Completed NCT00497536 Phase 4
47 NovoLet® Acceptance Study Within the Hospital Practise in Indonesia Completed NCT01492205 Phase 4
48 Surveillance Study of NovoRapid® for New Drug Re-examination Completed NCT01490112 Phase 4
49 Improving Blood Pressure Management in Patients With Diabetes Completed NCT00374270 Phase 4
50 baSal BoluS Therapy in patIenTs With TypE 1 Diabetes Mellitus Completed NCT01204593 Phase 4

Search NIH Clinical Center for Diabetes Mellitus, Insulin-Dependent, 2

Genetic Tests for Diabetes Mellitus, Insulin-Dependent, 2

Genetic tests related to Diabetes Mellitus, Insulin-Dependent, 2:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 2 29

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 2

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Dependent, 2:

39
Eye, Kidney

Publications for Diabetes Mellitus, Insulin-Dependent, 2

Variations for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 2:

66
id Symbol AA change Variation ID SNP ID
1 INS p.Arg55Cys VAR_063732 rs121908261

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.163C> T (p.Arg55Cys) single nucleotide variant Pathogenic rs121908261 GRCh37 Chromosome 11, 2182039: 2182039
2 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108

Expression for Diabetes Mellitus, Insulin-Dependent, 2

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Dependent, 2.

Pathways for Diabetes Mellitus, Insulin-Dependent, 2

Pathways related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 INS INS-IGF2
2 11.29 CTLA4 GIMAP5 PTPN22
3 11.11 CTLA4 PTPN22
4 10.95 FGF3 IGF2
5 10.68 IGF2 INS

GO Terms for Diabetes Mellitus, Insulin-Dependent, 2

Biological processes related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.65 FGF3 IGF2 INS
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.46 IGF2 INS
3 positive regulation of MAPK cascade GO:0043410 9.43 IGF2 INS
4 positive regulation of protein kinase B signaling GO:0051897 9.4 IGF2 INS
5 insulin receptor signaling pathway GO:0008286 9.37 IGF2 INS
6 glucose metabolic process GO:0006006 9.32 IGF2 INS
7 positive regulation of cell division GO:0051781 9.26 FGF3 IGF2
8 positive regulation of mitotic nuclear division GO:0045840 9.16 IGF2 INS
9 positive regulation of glycogen biosynthetic process GO:0045725 8.96 IGF2 INS
10 positive regulation of insulin receptor signaling pathway GO:0046628 8.62 IGF2 INS

Molecular functions related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.16 IGF2 INS
2 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS
3 hormone activity GO:0005179 8.8 IGF2 INS INS-IGF2

Sources for Diabetes Mellitus, Insulin-Dependent, 2

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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