JOD
MCID: TYP020
MIFTS: 69

Type 1 Diabetes (JOD) malady

Endocrine diseases category

Summaries for Type 1 Diabetes

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Sources:
21Genetics Home Reference, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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 diabetes mellitus and diabetic retinopathy. 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 eye, kidney and pancreas, 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:63 Diabetes mellitus type more...

Description from OMIM:46 601388,222100,125852

Aliases & Classifications for Type 1 Diabetes

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Sources:
21Genetics Home Reference, 46OMIM, 44Novoseek, 33MedlinePlus, 60UMLS, 25ICD10
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Related Diseases for Type 1 Diabetes

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Sources:
17GeneCards, 18GeneDecks
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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 431)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus32.2GAD2, GAD1, HLA-DQB1, HLA-DRB1, HLA-DQA1, HP
2diabetic retinopathy31.4INS, GAD1
3diabetic neuropathy31.3GAD2, GAD1, INS
4thyroiditis31.3CTLA4, GAD2, HLA-DRB1, PTPN22
5neuropathy31.3INS
6diabetic ketoacidosis31.3INS, GAD1, GAD2, CTLA4
7pancreatitis31.2INS
8celiac disease31.2HLA-DQB1, HLA-DQA1
9autoimmune thyroiditis31.2CTLA4, GAD2, GAD1, PTPN22
10autonomic neuropathy31.2GAD2, GAD1, INS
11hyperglycemia31.1HNF1A, GAD2, GAD1, INS, PAX4
12obesity30.9HNF1A, GAD2, INS
13graves' disease30.9CTLA4, GAD2, GAD1, HLA-DQB1, HLA-DRB1, HLA-DQA1
14hepatitis30.9CTLA4, HP
15atherosclerosis30.9INS, HP
16addison's disease30.8CTLA4, PTPN22
17hypertension30.8INS
18arthritis30.8FOXP3, CTLA4, HLA-DRB1, HP, PTPN22
19type 2 diabetes mellitus30.8HNF1A, IDDM2, GAD2, GAD1, INS, PAX4
20rheumatoid arthritis30.7HLA-DRB1, PTPN22
21proliferative diabetic retinopathy30.7GAD1
22multiple sclerosis30.6HLA-DQB1, HLA-DRB1
23insulinoma30.6HNF1A, GAD2, GAD1, INS, PAX4
24gestational diabetes30.6HNF1A, GAD1, INS
25liver cirrhosis30.5HLA-DRB1, HP
26hepatitis c30.5CTLA4, HLA-DRB1, HP
27maturity-onset diabetes of the young30.5HNF1A, INS, PAX4
28systemic lupus erythematosus30.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1, PTPN22, OAS1
29asthma30.4FOXP3, CTLA4, HLA-DRB1, HLA-DQA1
30cystic fibrosis30.3INS, HP, HLA-DQA1
31connective tissue disease30.3PTPN22, HLA-DRB1, CTLA4, FOXP3
32hyperthyroidism30.3CTLA4, HLA-DRB1, INS, PTPN22
33lymphopenia30.3IDDM2, FOXP3, PTPN22
34hypothyroidism30.3CTLA4, INS
35stiff-person syndrome30.3GAD2, GAD1
36dermatitis30.3CTLA4, FOXP3
37dermatitis herpetiformis30.3HLA-DQB1
38leukemia30.2HP, HLA-DRB1, FOXP3
39inflammatory bowel disease30.2FOXP3, CTLA4, HLA-DQB1, PTPN22
40juvenile rheumatoid arthritis30.2HLA-DQA1, HLA-DRB1, HLA-DQB1
41hepatitis b30.2CTLA4, HLA-DQB1, HLA-DRB1
42vitiligo30.2PTPN22, CTLA4
43influenza30.2KIR2DL2, HNF1A
44polycystic ovary syndrome30.1INS
45deficiency anemia30.1HP
46hypoparathyroidism30.1CTLA4
47schizophrenia29.9GAD2, GAD1, HLA-DQB1, HLA-DRB1, INS
48systemic scleroderma29.9PTPN22, HLA-DRB1, HLA-DQB1, CTLA4
49autoimmune hepatitis29.9CTLA4, HLA-DQB1, HLA-DRB1
50myasthenia gravis29.9HLA-DQB1, CTLA4

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



Diseases related to type 1 diabetes

Clinical Features for Type 1 Diabetes

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Sources:
46OMIM
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Clinical features from OMIM:

601388,222100,125852

Clinical synopsis from OMIM:

125852

Genetic Tests for Type 1 Diabetes

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Anatomical Context for Type 1 Diabetes

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Sources:
32MalaCards
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MalaCards organs/tissues related to Type 1 Diabetes:

32
Eye, Kidney, Pancreas, Heart, Skin, Testes

Animal Models for Type 1 Diabetes or affiliated genes

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Sources:
36MGI
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Publications for Type 1 Diabetes

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Genetic Variations for Type 1 Diabetes

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Type 1 Diabetes:

62
id Symbol AA change Variation ID SNP ID
1INSp.Arg55CysVAR_063732rs121908261

Expression for genes affiliated with Type 1 Diabetes

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database
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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
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11.4CTLA4, HLA-DQB1, HLA-DRB1, HLA-DQA1, PTPN22
3
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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
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11.2OAS1, HLA-DQA1, HLA-DRB1, HLA-DQB1
8
Immune response NFAT in immune response
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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
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11.2HLA-DQB1, HLA-DRB1, HLA-DQA1, ITPR3
13
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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
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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

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Type 1 Diabetes according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1tyrosine4412.3HNF1A, CTLA4, GAD2, GAD1, HLA-DQB1, HLA-DRB1
2cholesterol44 28 11 2415.0HNF1A, CTLA4, GAD2, GAD1, HP, INS
3glucose4411.8HNF1A, G6PC2, GAD2, GAD1, LRP5, PAX4
4oligonucleotide4411.8HNF1A, GAD2, GAD1, HLA-DQB1, HLA-DRB1, HLA-DQA1
5alanine4411.7CTLA4, GAD2, GAD1, HLA-DRB1, HP, INS
6c-peptide4411.7INS, HLA-DRB1, GAD1, GAD2, HNF1A
7cyclosporin a44 28 5913.6FOXP3, CTLA4, GAD2, GAD1, HP
8atp44 2812.5GAD2, GAD1, HLA-DRB1, ITPR3, HP, OAS1
9glutamate4411.3PTPN22, GAD1, GAD2
10dpa 14411.1HLA-DQA1, HLA-DRB1
11aspartate4411.0ITPR3, GAD1
12cysteine sulfinic acid4411.0GAD2, GAD1
13hypotaurine59 44 2412.9GAD1, GAD2
143-Sulfinoalanine11 2411.9GAD1, GAD2
15glatiramer acetate44 1111.8HLA-DRB1, CTLA4
16beta-hydroxybutyrate4410.7INS, HP
17repaglinide44 49 1112.5PAX4, INS

GO Terms for genes affiliated with Type 1 Diabetes

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 1 Diabetes

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet