JOD
MCID: TYP020
MIFTS: 73

Type 1 Diabetes (JOD) malady

Endocrine category

Summaries for Type 1 Diabetes

Sources:
21Genetics Home Reference, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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MedlinePlus:34 Diabetes means your blood glucose, or blood sugar, levels are too high. with type 1 diabetes, your pancreas does not make insulin. insulin is a hormone that helps glucose get into your cells to give them energy. without insulin, too much glucose stays in your blood. over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. type 1 diabetes happens most often in children and young adults but can appear at any age. symptoms may include being very thirsty urinating often feeling very hungry or tired losing weight without trying having sores that heal slowly having dry, itchy skin losing the feeling in your feet or having tingling in your feet having blurry eyesight a blood test can show if you have diabetes. if you do, you will need to take insulin for the rest of your life. nih: national institute of diabetes and digestive and kidney diseases

MalaCards: Type 1 Diabetes, also known as diabetes mellitus, insulin-dependent, is related to diabetic ketoacidosis and celiac disease. An important gene associated with Type 1 Diabetes is PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid)), and among its related pathways are Allograft rejection and CD28 co-stimulation. The drugs insulin and insulin, aspart, human and the compounds tyrosine and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are homeostasis/metabolism and immune system.

Genetics Home Reference:21 Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.

Wikipedia:64 Diabetes mellitus type more...

Description from OMIM:47 601388,222100,125852

Aliases & Classifications for Type 1 Diabetes

Sources:
21Genetics Home Reference, 47OMIM, 45Novoseek, 34MedlinePlus, 61UMLS, 25ICD10
See all sources

Related Diseases for Type 1 Diabetes

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Type 1 Diabetes family:

diabetes, type 2

Diseases related to Type 1 Diabetes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 402)
idRelated DiseaseScoreTop Affiliating Genes
1diabetic ketoacidosis31.2GAD1, CTLA4, GAD2, INS
2celiac disease31.2HLA-DQB1, HLA-DQA1
3autonomic neuropathy31.2GAD2, INS, GAD1
4thyroiditis31.1PTPN22, GAD2, HLA-DRB1, CTLA4
5insulin resistance31.0HNF1A, GAD2, INS, PAX4
6autoimmune thyroiditis30.9GAD1, PTPN22, CTLA4, GAD2
7graves' disease30.9HLA-DQA1, HLA-DRB1, GAD1, GAD2, CTLA4, HLA-DQB1
8atherosclerosis30.9INS, HP
9arthritis30.8FOXP3, PTPN22, HP, HLA-DRB1, CTLA4
10type 2 diabetes mellitus30.8GAD1, GAD2, INS, IDDM2, HNF1A, PAX4
11addison's disease30.6PTPN22, CTLA4
12hepatitis c30.6HLA-DRB1, CTLA4, HP
13insulinoma30.6HNF1A, INS, GAD2, GAD1, PAX4
14proliferative diabetic retinopathy30.6GAD1
15asthma30.5FOXP3, HLA-DRB1, HLA-DQA1, CTLA4
16gestational diabetes30.5HNF1A, GAD1, INS
17coronary heart disease30.5INS
18systemic lupus erythematosus30.4CTLA4, OAS1, HLA-DQB1, HLA-DRB1, HLA-DQA1, PTPN22
19cystic fibrosis30.3HLA-DQA1, INS, HP
20stiff-person syndrome30.3GAD1, GAD2
21atopy30.3CTLA4, HLA-DQA1
22juvenile rheumatoid arthritis30.2HLA-DQA1, HLA-DRB1, HLA-DQB1
23vitiligo30.2CTLA4, PTPN22
24polycystic ovary syndrome30.2INS
25deficiency anemia30.2HP
26hypoparathyroidism30.2CTLA4
27systemic scleroderma29.9HLA-DRB1, PTPN22, CTLA4, HLA-DQB1
28autoimmune hepatitis29.9HLA-DRB1, HLA-DQB1, CTLA4
29glucose intolerance29.9HNF1A, GAD1, INS
30celiac disease 329.9CTLA4, IDDM12
31vogt-koyanagi-harada disease29.9HLA-DRB1
32immunodysregulation, polyendocrinopathy and enteropathy x-linked29.9FOXP3
33thymoma29.9CTLA4
34narcolepsy29.9HLA-DRB1
35maturity-onset diabetes of the young29.9INS, PAX4, HNF1A
36viral hepatitis29.8HLA-DRB1, HLA-DQA1
37hypothyroidism, autoimmune29.8CTLA4, IDDM12
38diabetic nephropathy11.0
39hypoglycemia10.9
40diabetes, type 210.7
41diabetes mellitus, insulin-dependent-110.7
42type 1 diabetes mellitus10.7
43diabetic autonomic neuropathy10.6
44diabetic polyneuropathy10.5
45autonomic dysfunction10.5
46histiocytosis-lymphadenopathy plus syndrome10.5
47hypertriglyceridemia10.5
48hepatitis d10.4
49n syndrome10.4
50atopic dermatitis10.4

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



Diseases related to type 1 diabetes

Clinical Features for Type 1 Diabetes

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601388,222100,125852

Clinical synopsis from OMIM:

125852

Genetic Tests for Type 1 Diabetes

Anatomical Context for Type 1 Diabetes

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Type 1 Diabetes:

33
Skin, Liver, Kidney, Whole blood, Heart, Skeletal muscle, Adipocyte, Pancreas, Thyroid, Monocytes, T cells, B cells, Cardiac myocytes

Animal Models for Type 1 Diabetes or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Type 1 Diabetes

Sources:
51PubMed
See all sources

Articles related to Type 1 Diabetes:

(show top 50)    (show all 218)
idTitleAuthorsYear
1
Changes in insulin therapy regimens over 10a88yr in children and adolescents with type 1 diabetes attending diabetes camps. (24016246)
2013
2
Bayesian analysis of the geographical variation of type 1 diabetes mellitus in under 15 yr olds in northeast Spain, 1991-2009. (22816867)
2013
3
Trends in the incidence of childhood type 1 diabetes mellitus in Beijing based on hospitalization data from 1995 to 2010. (24216776)
2013
4
A functional single nucleotide polymorphism -1562C>T in the matrix metalloproteinase-9 promoter is associated with type 2 diabetes and diabetic foot ulcers. (24043671)
2013
5
MCP-1and IL-1I^ expression in the myocardia of two young patients with Type 1 diabetes mellitus and fatal diabetic ketoacidosis. (24246157)
2013
6
A high mean-HbA1c value 3-15a88months after diagnosis of type 1 diabetes in childhood is related to metabolic control, macroalbuminuria, and retinopathy in early adulthood-a pilot study using two nation-wide population based quality registries. (24119008)
2013
7
The heteroplasmic 15059G>A mutation in the mitochondrial cytochrome b gene and essential hypertension in type 2 diabetes. (23158979)
2012
8
Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant. (22724004)
2012
9
Comment on: Inzucchi et al. Management of hyperglycemia in type 2 diabetes: a patient-centered approach. Position statement of the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes Care 2012;35:1364-1379. (22996185)
2012
10
Genetic association of adiponectin gene polymorphisms (+45T/G and +10211T/G) with type 2 diabetes in North Indians. (23153972)
2012
11
Comment on: Inzucchi et al. Management of hyperglycemia in type 2 diabetes: a patient-centered approach. Position statement of the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes Care 2012;35:1364-1379. (22996184)
2012
12
Aldose reductase C-106T gene polymorphism is associated with diabetic retinopathy in Japanese patients with type 2 diabetes. (21420193)
2011
13
Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population. (21467606)
2011
14
Associations between single-nucleotide polymorphisms (+45T>G, +276G>T, -11377C>G, -11391G>A) of adiponectin gene and type 2 diabetes mellitus: a systematic review and meta-analysis. (21638131)
2011
15
The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population. (20378012)
2010
16
Short-term IL-1beta blockade reduces monocyte CD11b integrin expression in an IL-8 dependent fashion in patients with type 1 diabetes. (20483667)
2010
17
The association between the PTPN22 1858C>T variant and type 1 diabetes depends on HLA risk and GAD65 autoantibodies. (20445565)
2010
18
Levels of serum interleukin (IL)-6 and gingival crevicular fluid of IL-1beta and prostaglandin E(2) among non-smoking subjects with gingivitis and type 2 diabetes. (19186972)
2009
19
Temporal trends of HLA genotype frequencies of type 1 diabetes patients in Sweden from 1986 to 2005 suggest altered risk. (18769865)
2008
20
Gingival crevicular fluid PGE2, IL-1beta, t-PA, PAI-2 levels in type 2 diabetes and relationship with periodontal disease. (18472001)
2008
21
The peroxisome proliferator-activated receptor gamma coactivator-1 alpha gene (PGC-1alpha) is not associated with type 2 diabetes mellitus or body mass index among Hispanic and non Hispanic Whites from Colorado. (17479445)
2007
22
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. (17000021)
2007
23
Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11. (17509149)
2007
24
Association of the -112A>C polymorphism of the uncoupling protein 1 gene with insulin resistance in Japanese individuals with type 2 diabetes. (16338218)
2006
25
Chemokines as risk factors for type 2 diabetes: results from the MONICA/KORA Augsburg study, 1984-2002. (16532324)
2006
26
The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population. (16671953)
2006
27
Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population. (16322396)
2005
28
Association of humoral immunity to human Hsp60 with the IL-6 gene polymorphism C-174G in patients with type 2 diabetes and controls. (15952088)
2005
29
A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians. (16186275)
2005
30
Peroxisome proliferator-activated receptor-gamma co-activator-1alpha (PGC-1alpha) gene polymorphisms and their relationship to Type 2 diabetes in Asian Indians. (16241916)
2005
31
The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients. (16206511)
2005
32
Association between interleukin-6 polymorphism and age-at-onset of type 1 diabetes. Epistatic influences of the tumor necrosis factor-alpha and interleukin-1beta polymorphisms. (16464741)
2005
33
Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes. (16117820)
2005
34
The C-174G promoter polymorphism of the interleukin-6 (IL-6) gene that affects insulin sensitivity in Caucasians is not involved in the pathogenesis of Taiwanese type 2 diabetes mellitus. (15319170)
2004
35
Common polymorphisms of the PPAR-gamma2 (Pro12Ala) and PGC-1alpha (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial. (15592662)
2004
36
Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population. (12618861)
2003
37
Association study of the vitamin D: 1alpha-hydroxylase (CYP1alpha) gene and type 2 diabetes mellitus in a Polish population. (12746631)
2003
38
Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females. (12719374)
2003
39
Polymorphism of TNF-alpha (308 A/G), IL-10 (1082 A/G, 819 C/T 592 A/C), IL-6 (174 G/C), and IFN-gamma (874 A/T); genetically conditioned cytokine synthesis level in children with diabetes type 1]. (12818128)
2002
40
Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians. (12359146)
2002
41
Vitamin D 1alpha-hydroxylase (CYP1alpha) polymorphism in Graves' disease, Hashimoto's thyroiditis and type 1 diabetes mellitus. (12039697)
2002
42
Association of 16189 variant (T-->C transition) of mitochondrial DNA with genetic predisposition to type 2 diabetes in Chinese populations]. (11798951)
2001
43
Molecular characterization of the human PEA15 gene on 1q21-q22 and association with type 2 diabetes mellitus in Pima Indians. (10607908)
2000
44
Long-term effects of the endothelin(A) receptor antagonist LU 135252 and the angiotensin-converting enzyme inhibitor trandolapril on diabetic angiopathy and nephropathy in a chronic type I diabetes mellitus rat model. (10773002)
2000
45
The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. (10084598)
1999
46
Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes. (9867222)
1998
47
Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews. (9604876)
1998
48
Fructosamine in blood serum, binding and degradation of 125J-insulin by erythrocyte receptors in young persons with type I diabetes--effect of physical exercise]. (8755851)
1996
49
Effect of miglitol (BAY m-1099) on fasting blood glucose in type 2 diabetes mellitus. (8052342)
1994
50
Pathogenic factors in the development of type I and type II diabetes mellitus: 1990. (2233139)
1990

Genetic Variations for Type 1 Diabetes

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Type 1 Diabetes:

63
id Symbol AA change Variation SNP ID
1INSp.Arg55CysVAR_063732rs121908261

Expression for genes affiliated with Type 1 Diabetes

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Type 1 Diabetes

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

Pathways for genes affiliated with Type 1 Diabetes

Sources:
30KEGG, 52QIAGEN, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

Pathways related to Type 1 Diabetes according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.7INS, HLA-DQA1, HLA-DRB1, HLA-DQB1, GAD1, GAD2
2
Hide members
11.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1, PTPN22
3
Hide members
11.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1, ITPR3
4
Hide members
11.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1, ITPR3
511.2HLA-DQA1, HLA-DRB1, HLA-DQB1, CTLA4
6
Hide members
11.2HLA-DQA1, HLA-DRB1, HLA-DQB1, FOXP3
7
Hide members
11.2OAS1, HLA-DQA1, HLA-DRB1, HLA-DQB1
8
Immune response NFAT in immune response
Hide members
11.2ITPR3, HLA-DQA1, HLA-DRB1, HLA-DQB1
911.2ITPR3, HLA-DQA1, HLA-DRB1, HLA-DQB1
1011.2ITPR3, HLA-DQA1, HLA-DRB1, HLA-DQB1
11
Hide members
11.2HLA-DQB1, HLA-DRB1, HLA-DQA1, ITPR3
12
Immune response ICOS pathway in T-helper cell
Hide members
11.2HLA-DQB1, HLA-DRB1, HLA-DQA1, ITPR3
13
Hide members
11.0HNF1A, INS, PAX4
1411.0HLA-DQA1, HLA-DRB1, HLA-DQB1
15
Hide members
11.0HLA-DQB1, HLA-DRB1, HLA-DQA1
1611.0HLA-DQA1, HLA-DRB1, HLA-DQB1
17
Immune response Antigen presentation by MHC class II
Hide members
11.0HLA-DQA1, HLA-DRB1, HLA-DQB1
1811.0HLA-DQA1, HLA-DRB1, HLA-DQB1
19
Hide members
11.0HLA-DQB1, HLA-DRB1, HLA-DQA1
2010.8GAD1, GAD2
2110.8GAD1, GAD2
2210.8GAD2, GAD1
2310.8GAD1, GAD2
2410.7CTLA4

Compounds for genes affiliated with Type 1 Diabetes

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Type 1 Diabetes according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1tyrosine4512.3HNF1A, CTLA4, GAD2, GAD1, HLA-DQB1, HLA-DRB1
2cholesterol45 29 11 2415.0HNF1A, CTLA4, GAD2, GAD1, HP, INS
3glucose4511.8HNF1A, G6PC2, GAD2, GAD1, LRP5, PAX4
4oligonucleotide4511.8HNF1A, GAD2, GAD1, HLA-DQB1, HLA-DRB1, HLA-DQA1
5alanine4511.7CTLA4, GAD2, GAD1, HLA-DRB1, HP, INS
6c-peptide4511.7INS, HLA-DRB1, GAD1, GAD2, HNF1A
7cyclosporin a45 29 6013.6FOXP3, CTLA4, GAD2, GAD1, HP
8atp45 2912.5GAD2, GAD1, HLA-DRB1, ITPR3, HP, OAS1
9glutamate4511.3PTPN22, GAD1, GAD2
10dpa 14511.1HLA-DQA1, HLA-DRB1
11aspartate4511.0ITPR3, GAD1
12cysteine sulfinic acid4511.0GAD2, GAD1
13hypotaurine60 45 2412.9GAD1, GAD2
143-Sulfinoalanine11 2411.9GAD1, GAD2
15glatiramer acetate45 1111.8HLA-DRB1, CTLA4
16beta-hydroxybutyrate4510.7INS, HP
17repaglinide45 50 1112.5PAX4, INS

GO Terms for genes affiliated with Type 1 Diabetes

Sources:
16Gene Ontology
See all sources

Cellular components related to Type 1 Diabetes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261311.2HLA-DQA1, HLA-DRB1, HLA-DQB1
2clathrin-coated endocytic vesicle membraneGO:03066911.2HLA-DQA1, HLA-DRB1, HLA-DQB1
3integral to lumenal side of endoplasmic reticulum membraneGO:07155611.1HLA-DQB1, HLA-DRB1, HLA-DQA1
4transport vesicle membraneGO:03065811.1HLA-DQB1, HLA-DRB1, HLA-DQA1
5ER to Golgi transport vesicle membraneGO:01250711.0HLA-DQB1, HLA-DRB1, HLA-DQA1
6trans-Golgi network membraneGO:03258810.9HLA-DQB1, HLA-DRB1, HLA-DQA1
7clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:06120210.8GAD1, GAD2
8endocytic vesicle membraneGO:03066610.7HLA-DQA1, HLA-DRB1, HLA-DQB1

Biological processes related to Type 1 Diabetes according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1T cell receptor signaling pathwayGO:05085211.6PTPN22, HLA-DQA1, HLA-DRB1, HLA-DQB1, FOXP3
2interferon-gamma-mediated signaling pathwayGO:06033311.4HLA-DQB1, HLA-DRB1, HLA-DQA1, OAS1
3T cell costimulationGO:03129511.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1
4regulation of insulin secretionGO:05079611.4INS, ITPR3, G6PC2, HNF1A
5cytokine-mediated signaling pathwayGO:01922111.2OAS1, HLA-DQA1, HLA-DRB1, HLA-DQB1
6endocrine pancreas developmentGO:03101811.2HNF1A, INS, PAX4
7glutamate decarboxylation to succinateGO:00654011.0GAD1, GAD2
8immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.9HLA-DRB1, HLA-DQB1
9glucose homeostasisGO:04259310.9INS, G6PC2, HNF1A
10humoral immune response mediated by circulating immunoglobulinGO:00245510.8HLA-DQB1, HLA-DRB1
11neurotransmitter biosynthetic processGO:04213610.8GAD1, GAD2
12antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:01988610.7HLA-DQA1, HLA-DRB1, HLA-DQB1

Molecular functions related to Type 1 Diabetes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.6SOX13, FOXP3, CTLA4, GAD2, GAD1, ITPR3
2MHC class II receptor activityGO:03239511.0HLA-DQA1, HLA-DRB1, HLA-DQB1
3glutamate decarboxylase activityGO:00435110.7GAD1, GAD2
4glutamate bindingGO:01659510.5GAD2, GAD1

Products for genes affiliated with Type 1 Diabetes

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 1 Diabetes

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet