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 58 76 30 6 74
Insulin-Dependent Diabetes Mellitus 12 58 76
Iddm12 58 76
Diabetes Mellitus, Insulin-Dependent, Type 12 41

Classifications:



External Ids:

OMIM 58 601388
MeSH 45 D003922
MedGen 43 C1832392
UMLS 74 C1832392

Summaries for Diabetes Mellitus, Insulin-Dependent, 12

UniProtKB/Swiss-Prot : 76 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, 13. 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.

Description 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 30 CTLA4

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 12

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

42
Kidney, Eye, Thyroid

Publications for Diabetes Mellitus, Insulin-Dependent, 12

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

# Title Authors Year
1
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. ( 10868973 )
2000
2
NOD Idd5 locus controls insulitis and diabetes and overlaps the orthologous CTLA4/IDDM12 and NRAMP1 loci in humans. ( 11016460 )
2000
3
IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent). ( 10593567 )
1999
4
Genetic susceptibility to type 1 diabetes: clinical and molecular heterogeneity of IDDM1 and IDDM12 in a german population. ( 10522814 )
1999
5
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. ( 9421386 )
1998
6
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. ( 9792551 )
1998

Variations for Diabetes Mellitus, Insulin-Dependent, 12

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh37 Chromosome 2, 204735609: 204735609
2 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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