IDDM2
MCID: DBT040
MIFTS: 29

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. 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 bone, 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 12)
# Related Disease Score Top Affiliating Genes
1 type 1 diabetes mellitus 2 32.0 INS-IGF2 INS
2 diabetes mellitus 29.8 INS-IGF2 INS
3 hyperglycemia 10.1
4 lymphopenia 10.1
5 lymphomatoid papulosis 10.1
6 diabetes mellitus, insulin-dependent 9.8 INS-IGF2 INS
7 segawa syndrome, autosomal recessive 9.8 INS-IGF2 INS
8 hyperproinsulinemia 9.7 INS-IGF2 INS
9 maturity-onset diabetes of the young 9.7 INS-IGF2 INS
10 maturity-onset diabetes of the young, type 10 9.7 INS-IGF2 INS
11 diabetes mellitus, permanent neonatal 9.6 INS-IGF2 INS
12 beckwith-wiedemann syndrome 9.5 INS-IGF2 INS

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, Bone, Pancreas, T Cells, Thymus

Publications for Diabetes Mellitus, Insulin-Dependent, 2

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

# Title Authors Year
1
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
2
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
3
An F344 rat congenic for BB/DP rat-derived diabetes susceptibility loci Iddm1 and Iddm2. ( 11845290 )
2001
4
Unusual DNA structure of the diabetes susceptibility locus IDDM2 and its effect on transcription by the insulin promoter factor Pur-1/MAZ. ( 11070077 )
2000
5
Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. ( 8816977 )
1996

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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