IDDM10
MCID: DBT094
MIFTS: 23

Diabetes Mellitus, Insulin-Dependent, 10 (IDDM10)

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

Aliases & Classifications for Diabetes Mellitus, Insulin-Dependent, 10

MalaCards integrated aliases for Diabetes Mellitus, Insulin-Dependent, 10:

Name: Diabetes Mellitus, Insulin-Dependent, 10 57 74 29 6 72
Diabetes, Mellitus, Insulin-Dependent, Susceptibility to, 10 57 13
Iddm10 57 74
Diabetes Mellitus, Insulin-Dependent, Type 10 40
Diabetes, Mellitus, Insulin-Dependent 10 57
Insulin-Dependent Diabetes Mellitus 10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal locus and allelic heterogeneity


Classifications:



External Ids:

OMIM 57 601942
MeSH 44 D003922
MedGen 42 C1866040
UMLS 72 C1866040

Summaries for Diabetes Mellitus, Insulin-Dependent, 10

UniProtKB/Swiss-Prot : 74 Diabetes mellitus, insulin-dependent, 10: 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, 10, also known as diabetes, mellitus, insulin-dependent, susceptibility to, 10, is related to type 1 diabetes mellitus 10 and microvascular complications of diabetes 3. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 10 is IL2RA (Interleukin 2 Receptor Subunit Alpha). Affiliated tissues include kidney, eye and thyroid, and related phenotype is diabetes mellitus.

More information from OMIM: 601942

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 10

Graphical network of the top 20 diseases related to Diabetes Mellitus, Insulin-Dependent, 10:



Diseases related to Diabetes Mellitus, Insulin-Dependent, 10

Symptoms & Phenotypes for Diabetes Mellitus, Insulin-Dependent, 10

Human phenotypes related to Diabetes Mellitus, Insulin-Dependent, 10:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
diabetes mellitus, insulin-dependent

Clinical features from OMIM:

601942

Drugs & Therapeutics for Diabetes Mellitus, Insulin-Dependent, 10

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Insulin-Dependent, 10

Genetic Tests for Diabetes Mellitus, Insulin-Dependent, 10

Genetic tests related to Diabetes Mellitus, Insulin-Dependent, 10:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 10 29 IL2RA

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 10

MalaCards organs/tissues related to Diabetes Mellitus, Insulin-Dependent, 10:

41
Kidney, Eye, Thyroid

Publications for Diabetes Mellitus, Insulin-Dependent, 10

Articles related to Diabetes Mellitus, Insulin-Dependent, 10:

(show all 15)
# Title Authors PMID Year
1
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. 8 71
17676041 2007
2
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. 38 8
9215668 1997
3
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. 8
15776395 2005
4
A genome-wide search for human type 1 diabetes susceptibility genes. 8
8072542 1994
5
Lack of an association of miR-938 SNP in IDDM10 with human type 1 diabetes. 38
22014115 2011
6
Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11. 38
17509149 2007
7
Stromal cell-derived factor-1 chemokine gene variant in patients with type 1 diabetes and autoimmune thyroid disease. 38
15699497 2004
8
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population. 38
15320890 2004
9
[Genomics of type I diabetes mellitus and its late complications]. 38
15042845 2004
10
Stromal-cell derived factor-1 chemokine gene variant is associated with type 1 diabetes age at onset in Japanese population. 38
14522095 2003
11
Limitations of stratifying sib-pair data in common disease linkage studies: an example using chromosome 10p14-10q11 in type 1 diabetes. 38
12407706 2002
12
Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. 38
11507694 2001
13
Evidence for a new Graves disease susceptibility locus at chromosome 18q21. 38
10762555 2000
14
Age of diagnosis-based linkage analysis in type 1 diabetes. 38
10757648 2000
15
The analysis of parental origin of alleles may detect susceptibility loci for complex disorders. 38
10436381 1999

Variations for Diabetes Mellitus, Insulin-Dependent, 10

ClinVar genetic disease variations for Diabetes Mellitus, Insulin-Dependent, 10:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IL2RA NC_000010.10: g.6122009T> A single nucleotide variant association rs11594656 10:6122009-6122009 10:6080046-6080046
2 IL2RA NC_000010.11: g.6072697C> A single nucleotide variant association rs41295061 10:6114660-6114660 10:6072697-6072697
3 IL2RA NM_000417.2(IL2RA): c.584-8del deletion Uncertain significance 10:6061912-6061912 10:6019949-6019949

Expression for Diabetes Mellitus, Insulin-Dependent, 10

Search GEO for disease gene expression data for Diabetes Mellitus, Insulin-Dependent, 10.

Pathways for Diabetes Mellitus, Insulin-Dependent, 10

GO Terms for Diabetes Mellitus, Insulin-Dependent, 10

Sources for Diabetes Mellitus, Insulin-Dependent, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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