IDDM2
MCID: DBT040
MIFTS: 31

Diabetes Mellitus, Insulin-Dependent, 2 (IDDM2)

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

Aliases & Classifications for Diabetes Mellitus, Insulin-Dependent, 2

MalaCards integrated aliases for Diabetes Mellitus, Insulin-Dependent, 2:

Name: Diabetes Mellitus, Insulin-Dependent, 2 58 76 30 13 6 74
Iddm2 58 76
Insulin-Dependent Diabetes Mellitus 2; Iddm2 58
Diabetes Mellitus, Insulin-Dependent, Type 2 41
Insulin-Dependent Diabetes Mellitus 2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form (? 11q)


HPO:

33
diabetes mellitus, insulin-dependent, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 125852
MeSH 45 D003922
MedGen 43 C1852092
SNOMED-CT via HPO 70 263681008 46635009 73211009
UMLS 74 C1852092

Summaries for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot : 76 Diabetes mellitus, insulin-dependent, 2: 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, 2, also known as iddm2, is related to type 1 diabetes mellitus 2 and diabetes mellitus, insulin-dependent. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 2 is INS (Insulin), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Type II diabetes mellitus. Affiliated tissues include kidney, eye and thymus, and related phenotypes are diabetes mellitus and type i diabetes mellitus

Description from OMIM: 125852

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 2

Diseases in the Diabetes Mellitus, Insulin-Dependent family:

Diabetes Mellitus, Insulin-Dependent, 2 Diabetes Mellitus, Insulin-Dependent, 3
Diabetes Mellitus, Insulin-Dependent, 4 Diabetes Mellitus, Insulin-Dependent, 5
Diabetes Mellitus, Insulin-Dependent, 7 Diabetes Mellitus, Insulin-Dependent, 8
Diabetes Mellitus, Insulin-Dependent, 11 Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 12 Diabetes Mellitus, Insulin-Dependent, 15
Diabetes Mellitus, Insulin-Dependent, 6 Diabetes Mellitus, Insulin-Dependent, 10
Diabetes Mellitus, Insulin-Dependent, 17 Diabetes Mellitus, Insulin-Dependent, 18
Diabetes Mellitus, Insulin-Dependent, 19 Diabetes Mellitus, Insulin-Dependent, 20
Diabetes Mellitus, Insulin-Dependent, 21 Diabetes Mellitus, Insulin-Dependent, 22
Diabetes Mellitus, Insulin-Dependent, 23 Diabetes Mellitus, Insulin-Dependent, 24

Diseases related to Diabetes Mellitus, Insulin-Dependent, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 type 1 diabetes mellitus 2 32.0 INS INS-IGF2
2 diabetes mellitus, insulin-dependent 29.8 INS INS-IGF2
3 diabetes mellitus 29.7 INS INS-IGF2
4 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0
5 diabetes mellitus, insulin-dependent, 4 10.0
6 hyperglycemia 10.0
7 lymphopenia 10.0
8 lymphomatoid papulosis 10.0
9 segawa syndrome, autosomal recessive 9.8 INS INS-IGF2
10 hyperproinsulinemia 9.7 INS INS-IGF2
11 maturity-onset diabetes of the young 9.7 INS INS-IGF2
12 maturity-onset diabetes of the young, type 10 9.7 INS INS-IGF2
13 diabetes mellitus, permanent neonatal 9.6 INS INS-IGF2
14 beckwith-wiedemann syndrome 9.5 INS INS-IGF2

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Dependent, 2:



Diseases related to Diabetes Mellitus, Insulin-Dependent, 2

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Dependent, 2

Human phenotypes related to Diabetes Mellitus, Insulin-Dependent, 2:

33
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 33 HP:0000819
2 type i diabetes mellitus 33 HP:0100651

Symptoms via clinical synopsis from OMIM:

58
Endo:
insulin-dependent diabetes mellitus

Clinical features from OMIM:

125852

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Dependent, 2

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Insulin-Dependent, 2

Genetic Tests for Diabetes Mellitus, Insulin-Dependent, 2

Genetic tests related to Diabetes Mellitus, Insulin-Dependent, 2:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 2 30 INS

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 2

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Dependent, 2:

42
Kidney, Eye, Thymus, Pancreas, Bone, T Cells

Publications for Diabetes Mellitus, Insulin-Dependent, 2

Articles related to Diabetes Mellitus, Insulin-Dependent, 2:

(show all 27)
# Title Authors Year
1
Iddm1 and Iddm2 homozygous WOK.4BB rats develop lymphopenia, but no hyperglycemia like the BB/OK rats. ( 21374549 )
2011
2
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. ( 18192540 )
2008
3
The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. ( 17284223 )
2007
4
Insulin gene/IDDM2 locus in Japanese type 1 diabetes: contribution of class I alleles and influence of class I subdivision in susceptibility to type 1 diabetes. ( 17341563 )
2007
5
Impact of IDDM2 on disease pathogenesis and progression in children with newly diagnosed type 1 diabetes: reduced insulin antibody titres and preserved beta cell function. ( 16307231 )
2006
6
Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? ( 16380501 )
2006
7
Defects in differentiation of bone-marrow derived dendritic cells of the BB rat are partly associated with IDDM2 (the lyp gene) and partly associated with other genes in the BB rat background. ( 15922563 )
2005
8
Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity. ( 15008838 )
2004
9
Remapping the insulin gene/IDDM2 locus in type 1 diabetes. ( 15220214 )
2004
10
IDDM2 and the polymorphism of the human tyrosine hydroxylase (hTH) gene in African Americans with type-1 diabetes. ( 15303408 )
2004
11
IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity. ( 12750767 )
2003
12
Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: the mechanism by which the IDDM2 locus may predispose to diabetes. ( 11978634 )
2002
13
An F344 rat congenic for BB/DP rat-derived diabetes susceptibility loci Iddm1 and Iddm2. ( 11845290 )
2001
14
Unusual DNA structure of the diabetes susceptibility locus IDDM2 and its effect on transcription by the insulin promoter factor Pur-1/MAZ. ( 11070077 )
2000
15
A functional analysis of the role of IGF2 in IDDM2-encoded susceptibility to type 1 diabetes. ( 9588457 )
1998
16
Divergence between genetic determinants of IGF2 transcription levels in leukocytes and of IDDM2-encoded susceptibility to type 1 diabetes. ( 9709972 )
1998
17
Autoimmune responses to the beta cell autoantigen, insulin, and the INS VNTR-IDDM2 locus. ( 9844045 )
1998
18
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. ( 9054944 )
1997
19
The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. ( 9054945 )
1997
20
Evidence for association between the class I subset of the insulin gene minisatellite (IDDM2 locus) and IDDM in the Japanese population. ( 9313762 )
1997
21
Diabetes susceptibility at IDDM2 cannot be positively mapped to the VNTR locus of the insulin gene. ( 8739920 )
1996
22
Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. ( 8816977 )
1996
23
IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. ( 8816980 )
1996
24
Paternally transmitted IDDM2 influences diabetes susceptibility despite biallelic expression of the insulin gene in human pancreas. ( 8845059 )
1996
25
Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. ( 7573054 )
1995
26
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. ( 7773291 )
1995
27
The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. ( 7773292 )
1995

Variations for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 2:

76
# Symbol AA change Variation ID SNP ID
1 INS p.Arg55Cys VAR_063732 rs121908261

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.163C> T (p.Arg55Cys) single nucleotide variant Pathogenic rs121908261 GRCh37 Chromosome 11, 2182039: 2182039
2 INS NM_000207.2(INS): c.163C> T (p.Arg55Cys) single nucleotide variant Pathogenic rs121908261 GRCh38 Chromosome 11, 2160809: 2160809
3 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108
4 INS; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh38 Chromosome 11, 2160878: 2160878

Expression for Diabetes Mellitus, Insulin-Dependent, 2

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Dependent, 2.

Pathways for Diabetes Mellitus, Insulin-Dependent, 2

Pathways related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 INS INS-IGF2
2
Show member pathways
10.61 INS INS-IGF2

GO Terms for Diabetes Mellitus, Insulin-Dependent, 2

Biological processes related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 8.62 INS INS-IGF2

Molecular functions related to Diabetes Mellitus, Insulin-Dependent, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INS INS-IGF2

Sources for Diabetes Mellitus, Insulin-Dependent, 2

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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