IDDM2
MCID: DBT040
MIFTS: 28

Diabetes Mellitus, Insulin-Dependent, 2 (IDDM2)

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

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

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

Name: Diabetes Mellitus, Insulin-Dependent, 2 57 75 29 13 6 73
Iddm2 57 75
Insulin-Dependent Diabetes Mellitus 2; Iddm2 57
Diabetes Mellitus, Insulin-Dependent, Type 2 40
Insulin-Dependent Diabetes Mellitus 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form (? 11q)


HPO:

32
diabetes mellitus, insulin-dependent, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125852
MedGen 42 C1852092
MeSH 44 D003922
SNOMED-CT via HPO 69 263681008 73211009 46635009
UMLS 73 C1852092

Summaries for Diabetes Mellitus, Insulin-Dependent, 2

UniProtKB/Swiss-Prot : 75 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 maturity-onset diabetes of the young, type 10. 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 and eye, 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:

# Related Disease Score Top Affiliating Genes
1 type 1 diabetes mellitus 2 31.4 INS INS-IGF2
2 maturity-onset diabetes of the young, type 10 9.6 INS INS-IGF2
3 segawa syndrome, autosomal recessive 9.6 INS INS-IGF2
4 hyperproinsulinemia 9.5 INS INS-IGF2
5 diabetes mellitus, permanent neonatal 9.5 INS INS-IGF2
6 beckwith-wiedemann syndrome 9.4 INS INS-IGF2
7 maturity-onset diabetes of the young 9.3 INS INS-IGF2
8 diabetes mellitus, insulin-dependent 9.2 INS INS-IGF2
9 diabetes mellitus 9.0 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

Symptoms via clinical synopsis from OMIM:

57
Endo:
insulin-dependent diabetes mellitus


Clinical features from OMIM:

125852

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

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 type i diabetes mellitus 32 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 29 INS

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 2

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

41
Kidney, Eye

Publications for Diabetes Mellitus, Insulin-Dependent, 2

Variations for Diabetes Mellitus, Insulin-Dependent, 2

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

75
# 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.54 INS INS-IGF2
2 positive regulation of cell proliferation GO:0008284 9.52 INS INS-IGF2
3 regulation of signaling receptor activity GO:0010469 9.51 INS INS-IGF2
4 regulation of gene expression GO:0010468 9.49 INS INS-IGF2
5 positive regulation of MAPK cascade GO:0043410 9.48 INS INS-IGF2
6 activation of MAPK activity GO:0000187 9.46 INS INS-IGF2
7 glucose homeostasis GO:0042593 9.43 INS INS-IGF2
8 response to organic substance GO:0010033 9.4 INS INS-IGF2
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.37 INS INS-IGF2
10 response to glucose GO:0009749 9.32 INS INS-IGF2
11 response to insulin GO:0032868 9.26 INS INS-IGF2
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.16 INS INS-IGF2
13 response to nutrient levels GO:0031667 8.96 INS INS-IGF2
14 positive regulation of insulin receptor signaling pathway GO:0046628 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 9.26 INS INS-IGF2
2 insulin receptor binding GO:0005158 9.16 INS INS-IGF2
3 insulin-like growth factor receptor binding GO:0005159 8.96 INS INS-IGF2
4 receptor activator activity GO:0030546 8.62 INS INS-IGF2

Sources for Diabetes Mellitus, Insulin-Dependent, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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