T1D2
MCID: TYP028
MIFTS: 45

Type 1 Diabetes Mellitus 2 (T1D2)

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

Aliases & Classifications for Type 1 Diabetes Mellitus 2

MalaCards integrated aliases for Type 1 Diabetes Mellitus 2:

Name: Type 1 Diabetes Mellitus 2 57 12 15
Diabetes Mellitus, Insulin-Dependent, 2 57 73 29 13 6 71
Diabetes Mellitus, Noninsulin-Dependent, 1 57 29 39
Iddm2 57 12 73
Diabetes Mellitus, Noninsulin-Dependent 1 57 13
Insulin-Dependent Diabetes Mellitus 2 57 12
Niddm1 57 73
Diabetes Mellitus, Noninsulin-Dependent, 1; Niddm1 57
Diabetes Mellitus, Insulin-Dependent, 2; Iddm2 57
Diabetes Mellitus, Insulin-Dependent, Type 2 39
Diabetes Mellitus, Non-Insulin-Dependent, 1 73
Noninsulin-Dependent Diabetes Mellitus 1 57
Type 2 Diabetes Mellitus 1 57
T1d2 57
T2d1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant form (? 11q)


HPO:

31
type 1 diabetes mellitus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110741
OMIM® 57 125852 601283
ICD10 32 E10
SNOMED-CT via HPO 68 263681008 46635009 73211009
UMLS 71 C1852092

Summaries for Type 1 Diabetes Mellitus 2

UniProtKB/Swiss-Prot : 73 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.
Diabetes mellitus, non-insulin-dependent, 1: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

MalaCards based summary : Type 1 Diabetes Mellitus 2, also known as diabetes mellitus, insulin-dependent, 2, is related to lymphopenia and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Type 1 Diabetes Mellitus 2 is INS (Insulin), and among its related pathways/superpathways are NF-kappaB Signaling and Allograft rejection. The drugs Glucagon and Canagliflozin have been mentioned in the context of this disorder. Affiliated tissues include thymus, pancreas and thyroid, and related phenotypes are diabetes mellitus and type i diabetes mellitus

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.

More information from OMIM: 125852 601283

Related Diseases for Type 1 Diabetes Mellitus 2

Diseases in the Diabetes Mellitus family:

Type 1 Diabetes Mellitus 2 Type 2 Diabetes Mellitus
Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus 3
Type 1 Diabetes Mellitus 4 Type 1 Diabetes Mellitus 5
Type 1 Diabetes Mellitus 7 Type 1 Diabetes Mellitus 8
Type 1 Diabetes Mellitus 11 Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 12 Type 2 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 15 Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 10 Type 1 Diabetes Mellitus 17
Type 2 Diabetes Mellitus 3 Diabetes Mellitus, Congenital Autoimmune
Type 1 Diabetes Mellitus 18 Type 2 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 19 Type 1 Diabetes Mellitus 20
Type 1 Diabetes Mellitus 21 Type 1 Diabetes Mellitus 22
Type 1 Diabetes Mellitus 23 Type 1 Diabetes Mellitus 24
Type 2 Diabetes 5 Rare Diabetes Mellitus Type 1
Rare Diabetes Mellitus Type 2 Rare Diabetes Mellitus

Diseases related to Type 1 Diabetes Mellitus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 30.5 PTPN22 INS CTLA4
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 PTPRN PTPN22 INS CTLA4 AIRE
3 type 1 diabetes mellitus 4 30.2 GIMAP5 FGF3
4 thyroiditis 30.1 PTPN22 INS CTLA4 AIRE
5 graves' disease 29.8 PTPN22 HLA-DQB1 HLA-DQA1 CTLA4 AIRE
6 type 1 diabetes mellitus 29.7 TNFRSF25 PTPRN PTPN22 INS IGF2 HLA-DQB1
7 autoimmune disease 29.7 PTPRN PTPN22 INS HLA-DQB1 HLA-DQA1 CTLA4
8 type 2 diabetes mellitus 29.3 PTPRN INS IGF2 HLA-DQB1 HLA-DQA1 G6PC2
9 diabetes mellitus 28.5 TNFRSF25 PTPRN PTPN22 INS-IGF2 INS IGF2
10 hirata disease 10.4 TNFRSF10A INS
11 diabetes mellitus, permanent neonatal, 4 10.4 INS-IGF2 INS
12 silver-russell syndrome 3 10.4 INS-IGF2 IGF2
13 anca-associated vasculitis 10.3 PTPN22 CTLA4
14 adie pupil 10.3 TOR1A TNFRSF25
15 hypoglycemic coma 10.3 INS IGF2
16 hyperproinsulinemia 10.3 INS-IGF2 INS
17 potter's syndrome 10.3 INS IGF2
18 hyperandrogenism 10.3 INS IGF2 CAPN10
19 adrenal gland disease 10.3 INS IGF2 AIRE
20 achalasia, familial esophageal 10.3 HLA-DQB1 HLA-DQA1
21 adult-onset myasthenia gravis 10.3 HLA-DQA1 CTLA4
22 selective igg deficiency disease 10.3 TOR1A TNFRSF25
23 primary adrenal insufficiency 10.3 HLA-DQB1 HLA-DQA1
24 hypoadrenocorticism, familial 10.3 PTPN22 CTLA4 AIRE
25 central nervous system vasculitis 10.3 TNFRSF10A PTPN22 CTLA4
26 amelogenesis imperfecta, type ib 10.3 TNFRSF25 TNFRSF10A
27 type 1 diabetes mellitus 13 10.3 PTPRN CAPN10
28 type 1 diabetes mellitus 19 10.3 TRAFD1 HHIPL1
29 wissler-fanconi syndrome 10.3 PTPRN AIRE
30 hair disease 10.3 INS CTLA4 AIRE
31 turner syndrome 10.3 PTPN22 INS IGF2
32 type 1 diabetes mellitus 24 10.3 GIMAP5 G6PC2
33 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3 PTPN22 CTLA4 AIRE
34 autoimmune hepatitis type 1 10.2 HLA-DQB1 HLA-DQA1
35 myasthenia gravis 10.2 HLA-DQB1 CTLA4 AIRE
36 temporal arteritis 10.2 TNFRSF10A PTPN22 CTLA4
37 type 1 diabetes mellitus 18 10.2 TRAFD1 TNFRSF25 PTPN22
38 autoimmune polyendocrine syndrome, type ii 10.2 TNFRSF25 PTPN22 INS AIRE
39 podoconiosis 10.2 HLA-DQB1 HLA-DQA1
40 permanent neonatal diabetes mellitus 10.2 INS-IGF2 INS G6PC2
41 hypoparathyroidism 10.2 INS CTLA4 AIRE
42 immunoglobulin alpha deficiency 10.2 TOR1A TNFRSF25 HLA-DQB1
43 parathyroid gland disease 10.2 INS FGF3 AIRE
44 oligoarticular juvenile idiopathic arthritis 10.2 PTPN22 HLA-DQB1 HLA-DQA1
45 autoimmune hepatitis 10.2 HLA-DQB1 CTLA4 AIRE
46 shrimp allergy 10.2 HLA-DQB1 HLA-DQA1
47 pemphigoid gestationis 10.2 TNFRSF25 TNFRSF10A
48 immunodeficiency 31c 10.2 TNFRSF25 TNFRSF10A PTPN22 AIRE
49 latent autoimmune diabetes in adults 10.2 PTPN22 INS HLA-DQB1 CTLA4
50 focal epithelial hyperplasia 10.2 TNFRSF10A HLA-DQB1 HLA-DQA1

Graphical network of the top 20 diseases related to Type 1 Diabetes Mellitus 2:



Diseases related to Type 1 Diabetes Mellitus 2

Symptoms & Phenotypes for Type 1 Diabetes Mellitus 2

Human phenotypes related to Type 1 Diabetes Mellitus 2:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 type i diabetes mellitus 31 HP:0100651

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endo:
insulin-dependent diabetes mellitus

Clinical features from OMIM®:

125852 601283 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Type 1 Diabetes Mellitus 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 AIRE CAPN10 CTLA4 G6PC2 HLA-DQA1 HLA-DQB1
2 hematopoietic system MP:0005397 10.07 AIRE CAPN10 CTLA4 FGF3 G6PC2 HLA-DQA1
3 immune system MP:0005387 10.03 AIRE CAPN10 CTLA4 FGF3 G6PC2 HLA-DQA1
4 liver/biliary system MP:0005370 9.5 AIRE CAPN10 CTLA4 HLA-DQB1 IGF2 INS
5 mortality/aging MP:0010768 9.44 AIRE CTLA4 FGF3 HHIPL1 HLA-DQB1 IGF2

Drugs & Therapeutics for Type 1 Diabetes Mellitus 2

Drugs for Type 1 Diabetes Mellitus 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved 16941-32-5
2
Canagliflozin Approved 842133-18-0
3
Liraglutide Approved 204656-20-2 44147092
4 Hormone Antagonists
5 Hormones
6 Sodium-Glucose Transporter 2 Inhibitors
7 Glucagon-Like Peptide 1
8 Hypoglycemic Agents
9 Incretins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Combined Incretin-Based Therapy Plus Canagliflozin on Glycemic Control and the Compensatory Rise in Hepatic Glucose Production in Type 2 Diabetic Patients Completed NCT02324842 Canagliflozin;Liraglutide

Search NIH Clinical Center for Type 1 Diabetes Mellitus 2

Genetic Tests for Type 1 Diabetes Mellitus 2

Genetic tests related to Type 1 Diabetes Mellitus 2:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 2 29 INS
2 Diabetes Mellitus, Noninsulin-Dependent, 1 29 CAPN10

Anatomical Context for Type 1 Diabetes Mellitus 2

MalaCards organs/tissues related to Type 1 Diabetes Mellitus 2:

40
Thymus, Pancreas, Thyroid

Publications for Type 1 Diabetes Mellitus 2

Articles related to Type 1 Diabetes Mellitus 2:

(show all 37)
# Title Authors PMID Year
1
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 6 57
18192540 2008
2
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 57
19430480 2009
3
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 57
18978792 2008
4
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 57
17554300 2007
5
Unusual DNA structure of the diabetes susceptibility locus IDDM2 and its effect on transcription by the insulin promoter factor Pur-1/MAZ. 57
11070077 2000
6
The insulin gene VNTR, type 2 diabetes and birth weight. 57
10080175 1999
7
Weighing in on diabetes risk. 57
9662384 1998
8
Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood. 57
9590300 1998
9
Type II diabetes, essential hypertension, and obesity as "syndromes of impaired genetic homeostasis": the "thrifty genotype" hypothesis enters the 21st century. 57
9894356 1998
10
Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele. The IMDIAB Group. 57
9354805 1997
11
Insulin gene region contributes to genetic susceptibility to, but may not to low incidence of, insulin-dependent diabetes mellitus in Japanese. 57
9144439 1997
12
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. 57
9054944 1997
13
The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. 57
9054945 1997
14
IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. 57
8816980 1996
15
Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. 57
8816977 1996
16
Human type 1 diabetes and the insulin gene: principles of mapping polygenes. 57
8982458 1996
17
Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. 57
7573054 1995
18
The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. 57
7773292 1995
19
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. 57
7773291 1995
20
A genome-wide search for human type 1 diabetes susceptibility genes. 57
8072542 1994
21
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). 57
8447318 1993
22
Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. 57
1345171 1992
23
Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. 57
1944595 1991
24
Fetal and infant growth and impaired glucose tolerance at age 64. 57
1954451 1991
25
Linkage strategies for genetically complex traits. I. Multilocus models. 57
2301392 1990
26
HLA and insulin gene associations with IDDM. 57
2567257 1989
27
A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. 57
6363172 1984
28
Polymorphic DNA region adjacent to the 5' end of the human insulin gene. 57
6272317 1981
29
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? 57
13937884 1962
30
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization. 61
32750298 2020
31
Clinical features and treatment responses in pediatric lymphocytic and collagenous colitis. 61
23820404 2013
32
Diabetes distress in Type 1 diabetes--a new measurement fit for purpose. 61
23701311 2013
33
Significantly association of diabetes mellitus with CTLA-4 gene polymorphisms based on a meta-analysis of epidemiological evidence in Asians and non-Asians. 61
24085454 2013
34
Celiac disease and autoimmune thyroid disease. 61
18056028 2007
35
[Helicobacter pylori infection and its metabolic consequences in children and adolescents with type 1 diabetes mellitus]. 61
17625277 2007
36
[Role of fibroblasts in the development of diabetes mellitus and its complications]. 61
31627552 2005
37
[Cardiovascular autonomic neuropathy and nephropathy in patients with type-1 diabetes mellitus]. 61
15518324 2004

Variations for Type 1 Diabetes Mellitus 2

ClinVar genetic disease variations for Type 1 Diabetes Mellitus 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser) SNV Pathogenic 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
2 INS-IGF2 NM_000207.3(INS):c.163C>T (p.Arg55Cys) SNV Pathogenic 13392 rs121908261 11:2182039-2182039 11:2160809-2160809

UniProtKB/Swiss-Prot genetic disease variations for Type 1 Diabetes Mellitus 2:

73
# Symbol AA change Variation ID SNP ID
1 INS p.Arg55Cys VAR_063732 rs121908261

Expression for Type 1 Diabetes Mellitus 2

Search GEO for disease gene expression data for Type 1 Diabetes Mellitus 2.

Pathways for Type 1 Diabetes Mellitus 2

GO Terms for Type 1 Diabetes Mellitus 2

Cellular components related to Type 1 Diabetes Mellitus 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II protein complex GO:0042613 8.96 HLA-DQB1 HLA-DQA1
2 transport vesicle membrane GO:0030658 8.8 PTPRN HLA-DQB1 HLA-DQA1

Biological processes related to Type 1 Diabetes Mellitus 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of glycogen biosynthetic process GO:0045725 9.26 INS IGF2
2 positive regulation of protein kinase B signaling GO:0051897 9.26 MAZ INS IGF2 FGF3
3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DQB1 HLA-DQA1
4 T cell receptor signaling pathway GO:0050852 8.92 PTPN22 HLA-DQB1 HLA-DQA1 CTLA4

Molecular functions related to Type 1 Diabetes Mellitus 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 INS-IGF2 INS IGF2
2 insulin-like growth factor receptor binding GO:0005159 8.96 INS IGF2
3 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DQA1

Sources for Type 1 Diabetes Mellitus 2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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