MCID: DBT040
MIFTS: 22

Diabetes Mellitus, Insulin-Dependent, 2

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

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

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

Name: Diabetes Mellitus, Insulin-Dependent, 2 53 71 28 13 69
Iddm2 53 71
Insulin-Dependent Diabetes Mellitus 2; Iddm2 53
Insulin-Dependent Diabetes Mellitus 2 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant form (? 11q)


HPO:

31
diabetes mellitus, insulin-dependent, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 125852
MedGen 39 C1852092
MeSH 41 D003922
SNOMED-CT via HPO 65 263681008 46635009
UMLS 69 C1852092

Summaries for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot : 71 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 has symptoms including type i diabetes mellitus An important gene associated with Diabetes Mellitus, Insulin-Dependent, 2 is INS (Insulin). Affiliated tissues include kidney and eye.

Description from OMIM: 125852

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 2

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

Symptoms via clinical synopsis from OMIM:

53
Endo:
insulin-dependent diabetes mellitus


Clinical features from OMIM:

125852

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

31
# Description HPO Frequency HPO Source Accession
1 type i diabetes mellitus 31 HP:0100651

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 28 INS

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 2

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

38
Kidney, Eye

Publications for Diabetes Mellitus, Insulin-Dependent, 2

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

(show all 13)
# Title Authors Year
1
Iddm1 and Iddm2 homozygous WOK.4BB rats develop lymphopenia, but no hyperglycemia like the BB/OK rats. ( 21374549 )
2011
2
The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. ( 17284223 )
2007
3
Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2? ( 16380501 )
2006
4
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
5
IDDM2 and the polymorphism of the human tyrosine hydroxylase (hTH) gene in African Americans with type-1 diabetes. ( 15303408 )
2004
6
Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity. ( 15008838 )
2004
7
Evidence for association between the class I subset of the insulin gene minisatellite (IDDM2 locus) and IDDM in the Japanese population. ( 9313762 )
1997
8
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. ( 9054944 )
1997
9
Diabetes susceptibility at IDDM2 cannot be positively mapped to the VNTR locus of the insulin gene. ( 8739920 )
1996
10
Paternally transmitted IDDM2 influences diabetes susceptibility despite biallelic expression of the insulin gene in human pancreas. ( 8845059 )
1996
11
Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. ( 7573054 )
1995
12
The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. ( 7773292 )
1995
13
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. ( 7773291 )
1995

Variations for Diabetes Mellitus, Insulin-Dependent, 2

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

71
# 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; INS-IGF2 NM_000207.2(INS): c.94G> A (p.Gly32Ser) single nucleotide variant Pathogenic rs80356664 GRCh37 Chromosome 11, 2182108: 2182108

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

GO Terms for Diabetes Mellitus, Insulin-Dependent, 2

Sources for Diabetes Mellitus, Insulin-Dependent, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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