IDDM12
MCID: DBT082
MIFTS: 21

Diabetes Mellitus, Insulin-Dependent, 12 (IDDM12)

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

Aliases & Classifications for Diabetes Mellitus, Insulin-Dependent, 12

MalaCards integrated aliases for Diabetes Mellitus, Insulin-Dependent, 12:

Name: Diabetes Mellitus, Insulin-Dependent, 12 56 73 29 6 71
Insulin-Dependent Diabetes Mellitus 12 56 73
Iddm12 56 73
Diabetes Mellitus, Insulin-Dependent, Type 12 39

Classifications:



External Ids:

OMIM 56 601388
MeSH 43 D003922
MedGen 41 C1832392
UMLS 71 C1832392

Summaries for Diabetes Mellitus, Insulin-Dependent, 12

UniProtKB/Swiss-Prot : 73 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 : Diabetes Mellitus, Insulin-Dependent, 12, also known as insulin-dependent diabetes mellitus 12, is related to type 1 diabetes mellitus 12 and diabetes mellitus, insulin-dependent. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 12 is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4). Affiliated tissues include eye, kidney and thyroid.

More information from OMIM: 601388

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 12

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Dependent, 12:



Diseases related to Diabetes Mellitus, Insulin-Dependent, 12

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Dependent, 12

Clinical features from OMIM:

601388

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Dependent, 12

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Insulin-Dependent, 12

Genetic Tests for Diabetes Mellitus, Insulin-Dependent, 12

Genetic tests related to Diabetes Mellitus, Insulin-Dependent, 12:

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

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 12

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Dependent, 12:

40
Eye, Kidney, Thyroid, T Cells

Publications for Diabetes Mellitus, Insulin-Dependent, 12

Articles related to Diabetes Mellitus, Insulin-Dependent, 12:

(show all 34)
# Title Authors PMID Year
1
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. 61 56
9259273 1997
2
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 61 56
8817351 1996
3
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 56
12724780 2003
4
CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. 56
8989248 1997
5
Genetic susceptibility of childhood type 1 diabetes mellitus in Japan. 61
23330247 2012
6
Association of HLA class II alleles and CTLA-4 polymorphism with type 1 diabetes. 61
21422625 2011
7
Functional evaluation of the type 1 diabetes (T1D) susceptibility candidate genes. 61
17448564 2007
8
Genetics of type 1 diabetes mellitus. 61
17551474 2006
9
Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians. 61
16671945 2006
10
Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus. 61
16390390 2005
11
A linkage study of 12 IDDM susceptibility loci in the Finnish population. 61
15037990 2004
12
[Genomics of type I diabetes mellitus and its late complications]. 61
15042845 2004
13
Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure? 61
12687342 2003
14
A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes. 61
12121283 2002
15
[Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population]. 61
11776689 2001
16
Further mapping of the Idd5.1 locus for autoimmune diabetes in NOD mice. 61
11723074 2001
17
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. 61
11507694 2001
18
CTLA4 gene polymorphism contributes to the mode of onset of diabetes with antiglutamic acid decarboxylase antibody in Japanese patients: genetic analysis of diabetic patients with antiglutamic acid decarboxylase antibody. 61
11606170 2001
19
Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population. 61
11685455 2001
20
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. 61
11158025 2001
21
Genetics of type 1A diabetes. 61
11237226 2001
22
No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population. 61
11681491 2001
23
Genetic susceptibility factors of Type 1 diabetes in Asians. 61
11241886 2001
24
NOD Idd5 locus controls insulitis and diabetes and overlaps the orthologous CTLA4/IDDM12 and NRAMP1 loci in humans. 61
11016460 2000
25
CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. 61
10782900 2000
26
Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33. 61
10868973 2000
27
Association of CTLA-4 polymorphism with positive anti-GAD antibody in Japanese subjects with type 1 diabetes mellitus. 61
10619986 1999
28
Genetic susceptibility to type 1 diabetes: clinical and molecular heterogeneity of IDDM1 and IDDM12 in a german population. 61
10522814 1999
29
IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). 61
10593567 1999
30
Lack of association between CTLA-4 gene polymorphism and IDDM in Japanese subjects. 61
10052685 1999
31
Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group. 61
9792551 1998
32
Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population. 61
9421386 1998
33
Genetics of type 1 diabetes. 61
9296067 1997
34
Panning for gold: genome-wide scanning for linkage in type 1 diabetes. 61
8875250 1996

Variations for Diabetes Mellitus, Insulin-Dependent, 12

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 12:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)SNV Conflicting interpretations of pathogenicity 432079 rs1553657429 2:204735609-204735609 2:203870886-203870886

Expression for Diabetes Mellitus, Insulin-Dependent, 12

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Dependent, 12.

Pathways for Diabetes Mellitus, Insulin-Dependent, 12

GO Terms for Diabetes Mellitus, Insulin-Dependent, 12

Sources for Diabetes Mellitus, Insulin-Dependent, 12

3 CDC
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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