T1D12
MCID: TYP036
MIFTS: 28

Type 1 Diabetes Mellitus 12 (T1D12)

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

Aliases & Classifications for Type 1 Diabetes Mellitus 12

MalaCards integrated aliases for Type 1 Diabetes Mellitus 12:

Name: Type 1 Diabetes Mellitus 12 57 12 15
Diabetes Mellitus, Insulin-Dependent, 12 57 72 29 6 70
Insulin-Dependent Diabetes Mellitus 12 57 12 72
Iddm12 57 12 72
Diabetes Mellitus, Insulin-Dependent, 12; Iddm12 57
Type 1 Diabetes Mellitus 12, Susceptibility to 6
Diabetes Mellitus, Insulin-Dependent, Type 12 39
T1d12 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0110751
OMIM® 57 601388
MeSH 44 D003922
ICD10 32 E10
MedGen 41 C1832392
UMLS 70 C1832392

Summaries for Type 1 Diabetes Mellitus 12

UniProtKB/Swiss-Prot : 72 Diabetes mellitus, insulin-dependent, 12: 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 : Type 1 Diabetes Mellitus 12, also known as diabetes mellitus, insulin-dependent, 12, is related to thyroiditis and type 1 diabetes mellitus. An important gene associated with Type 1 Diabetes Mellitus 12 is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4), and among its related pathways/superpathways is NF-kappaB Signaling. Affiliated tissues include thyroid, and related phenotype is endocrine/exocrine gland.

Disease Ontology : 12 A type 1 diabetes mellitus that has material basis in mutation of the CTLA4 gene on chromosome 2q33.2.

More information from OMIM: 601388

Related Diseases for Type 1 Diabetes Mellitus 12

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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 thyroiditis 29.8 PTPN22 INS CTLA4
2 type 1 diabetes mellitus 28.9 TNFRSF25 SUMO4 PTPRN PTPN22 INS CTLA4
3 diabetes mellitus 28.9 TNFRSF25 SUMO4 PTPRN PTPN22 INS CTLA4
4 anca-associated vasculitis 10.2 PTPN22 CTLA4
5 type 1 diabetes mellitus 18 10.1 TNFRSF25 PTPN22
6 scleritis 10.1 PTPN22 CTLA4
7 hypoglycemia 10.1
8 latent autoimmune diabetes in adults 10.0 PTPN22 INS CTLA4
9 hirata disease 10.0 TNFRSF10A INS
10 amelogenesis imperfecta, type ib 10.0 TNFRSF25 TNFRSF10A
11 hypoadrenocorticism, familial 10.0 PTPN22 CTLA4
12 pemphigoid gestationis 10.0 TNFRSF25 TNFRSF10A
13 pernicious anemia 9.9 TNFRSF25 PTPRN PTPN22
14 autoimmune polyendocrine syndrome, type ii 9.9 TNFRSF25 PTPN22 INS
15 hashimoto thyroiditis 9.9
16 graves' disease 9.9
17 central nervous system vasculitis 9.9 TNFRSF10A PTPN22 CTLA4
18 amelogenesis imperfecta, type ie 9.9 TNFRSF25 TNFRSF10A
19 diabetes mellitus, ketosis-prone 9.9 PTPRN INS CTLA4
20 adrenal cortex disease 9.9 TNFRSF25 PTPN22 INS
21 temporal arteritis 9.9 TNFRSF10A PTPN22 CTLA4
22 brachydactyly, type c 9.9 PTPRN INS CTLA4
23 pancreatic cystadenoma 9.9 PTPRN INS
24 immunodeficiency 31c 9.9 TNFRSF25 TNFRSF10A PTPN22
25 autoimmune disease of musculoskeletal system 9.9 TNFRSF10A PTPN22 CTLA4
26 type 1 diabetes mellitus 8 9.9 PTPN22 PDCD2
27 hypersensitivity reaction type iv disease 9.8 TNFRSF25 CTLA4
28 autoimmune disease 9.8 PTPRN PTPN22 INS CTLA4
29 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8 PTPRN PTPN22 INS CTLA4
30 autoimmune disease of skin and connective tissue 9.7 TNFRSF25 TNFRSF10A PTPN22 CTLA4
31 bone inflammation disease 9.7 TNFRSF10A PTPN22 INS CTLA4
32 autoimmune disease of gastrointestinal tract 9.7 TNFRSF25 TNFRSF10A INS CTLA4
33 behcet syndrome 9.6 TNFRSF10A SUMO4 PTPN22 CTLA4
34 adrenal cortical hypofunction 9.3 TNFRSF25 TNFRSF10A PTPRN PTPN22 INS CTLA4
35 type 1 diabetes mellitus 2 9.3 TNFRSF25 TNFRSF10A PTPRN PTPN22 INS CTLA4
36 autoimmune disease of endocrine system 9.1 TNFRSF25 TNFRSF10A PTPRN PTPN22 LINC01193 INS
37 celiac disease 1 9.1 TNFRSF25 TNFRSF10A PTPRN PTPN22 LINC01193 INS
38 type 1 diabetes mellitus 5 8.9 TNFRSF25 TNFRSF10A SUMO4 PTPN22 INS EFHB

Graphical network of the top 20 diseases related to Type 1 Diabetes Mellitus 12:



Diseases related to Type 1 Diabetes Mellitus 12

Symptoms & Phenotypes for Type 1 Diabetes Mellitus 12

Clinical features from OMIM®:

601388 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Type 1 Diabetes Mellitus 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.1 CTLA4 INS PTPN22 PTPRN TNFRSF10A TNFRSF25

Drugs & Therapeutics for Type 1 Diabetes Mellitus 12

Search Clinical Trials , NIH Clinical Center for Type 1 Diabetes Mellitus 12

Genetic Tests for Type 1 Diabetes Mellitus 12

Genetic tests related to Type 1 Diabetes Mellitus 12:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 12 29 CTLA4

Anatomical Context for Type 1 Diabetes Mellitus 12

MalaCards organs/tissues related to Type 1 Diabetes Mellitus 12:

40
Thyroid

Publications for Type 1 Diabetes Mellitus 12

Articles related to Type 1 Diabetes Mellitus 12:

(show all 16)
# Title Authors PMID Year
1
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. 57 6
9259273 1997
2
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 57 6
8817351 1996
3
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 6
15688186 2005
4
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 6
15138458 2004
5
Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. 6
15301861 2004
6
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 57
12724780 2003
7
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. 6
11158025 2001
8
The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders. 6
11098935 2000
9
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. 6
10475192 1999
10
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. 6
10189842 1998
11
Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. 6
9398726 1997
12
CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. 57
8989248 1997
13
Performance of the FreeStyle Libre Flash glucose monitoring system in patients with type 1 and 2 diabetes mellitus. 61
28243449 2017
14
Twice- rather than once-daily basal insulin is associated with better glycaemic control in Type 1 diabetes mellitus 12 months after skills-based structured education in insulin self-management. 61
25982032 2015
15
No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus. 61
11796176 2002
16
Improved postprandial blood glucose control and reduced nocturnal hypoglycemia during treatment with two novel insulin lispro-protamine formulations, insulin lispro mix25 and insulin lispro mix50. Mix50 Study Group. 61
10321421 1999

Variations for Type 1 Diabetes Mellitus 12

ClinVar genetic disease variations for Type 1 Diabetes Mellitus 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTLA4 NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) SNV risk factor 16921 rs231775 GRCh37: 2:204732714-204732714
GRCh38: 2:203867991-203867991
2 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886

Expression for Type 1 Diabetes Mellitus 12

Search GEO for disease gene expression data for Type 1 Diabetes Mellitus 12.

Pathways for Type 1 Diabetes Mellitus 12

Pathways related to Type 1 Diabetes Mellitus 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 TNFRSF25 PTPN22 CTLA4

GO Terms for Type 1 Diabetes Mellitus 12

Molecular functions related to Type 1 Diabetes Mellitus 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-like protein ligase binding GO:0044389 8.62 SUMO4 PTPRN

Sources for Type 1 Diabetes Mellitus 12

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