IDDM12
MCID: DBT082
MIFTS: 22

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 57 74 29 6 72
Insulin-Dependent Diabetes Mellitus 12 57 74
Iddm12 57 74
Diabetes Mellitus, Insulin-Dependent, Type 12 40

Classifications:



External Ids:

OMIM 57 601388
MeSH 44 D003922
MedGen 42 C1832392
UMLS 72 C1832392

Summaries for Diabetes Mellitus, Insulin-Dependent, 12

UniProtKB/Swiss-Prot : 74 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 kidney, eye 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:

41
Kidney, Eye, 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. 38 8
9259273 1997
2
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 38 8
8817351 1996
3
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 8
12724780 2003
4
CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. 8
8989248 1997
5
Genetic susceptibility of childhood type 1 diabetes mellitus in Japan. 38
23330247 2012
6
Association of HLA class II alleles and CTLA-4 polymorphism with type 1 diabetes. 38
21422625 2011
7
Functional evaluation of the type 1 diabetes (T1D) susceptibility candidate genes. 38
17448564 2007
8
Genetics of type 1 diabetes mellitus. 38
17551474 2006
9
Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians. 38
16671945 2006
10
Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus. 38
16390390 2005
11
A linkage study of 12 IDDM susceptibility loci in the Finnish population. 38
15037990 2004
12
[Genomics of type I diabetes mellitus and its late complications]. 38
15042845 2004
13
Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure? 38
12687342 2003
14
A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes. 38
12121283 2002
15
[Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population]. 38
11776689 2001
16
Further mapping of the Idd5.1 locus for autoimmune diabetes in NOD mice. 38
11723074 2001
17
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. 38
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. 38
11606170 2001
19
Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population. 38
11685455 2001
20
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. 38
11158025 2001
21
Genetics of type 1A diabetes. 38
11237226 2001
22
No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population. 38
11681491 2001
23
Genetic susceptibility factors of Type 1 diabetes in Asians. 38
11241886 2001
24
NOD Idd5 locus controls insulitis and diabetes and overlaps the orthologous CTLA4/IDDM12 and NRAMP1 loci in humans. 38
11016460 2000
25
CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. 38
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. 38
10868973 2000
27
Association of CTLA-4 polymorphism with positive anti-GAD antibody in Japanese subjects with type 1 diabetes mellitus. 38
10619986 1999
28
IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). 38
10593567 1999
29
Genetic susceptibility to type 1 diabetes: clinical and molecular heterogeneity of IDDM1 and IDDM12 in a german population. 38
10522814 1999
30
Lack of association between CTLA-4 gene polymorphism and IDDM in Japanese subjects. 38
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. 38
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. 38
9421386 1998
33
Genetics of type 1 diabetes. 38
9296067 1997
34
Panning for gold: genome-wide scanning for linkage in type 1 diabetes. 38
8875250 1996

Variations for Diabetes Mellitus, Insulin-Dependent, 12

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....