IDDM10
MCID: DBT094
MIFTS: 21

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 58 76 30 6 74
Diabetes, Mellitus, Insulin-Dependent, Susceptibility to, 10 58 13
Iddm10 58 76
Diabetes Mellitus, Insulin-Dependent, Type 10 41
Diabetes, Mellitus, Insulin-Dependent 10 58
Insulin-Dependent Diabetes Mellitus 10 58

Characteristics:

OMIM:

58
Inheritance:
autosomal locus and allelic heterogeneity


Classifications:



External Ids:

OMIM 58 601942
MeSH 45 D003922
MedGen 43 C1866040
SNOMED-CT via HPO 70 73211009
UMLS 74 C1866040

Summaries for Diabetes Mellitus, Insulin-Dependent, 10

UniProtKB/Swiss-Prot : 76 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 diabetes mellitus. An important gene associated with Diabetes Mellitus, Insulin-Dependent, 10 is IL2RA (Interleukin 2 Receptor Subunit Alpha). Affiliated tissues include kidney and eye, and related phenotype is diabetes mellitus.

Description from OMIM: 601942

Related Diseases for Diabetes Mellitus, Insulin-Dependent, 10

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

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

33
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 33 HP:0000819

Symptoms via clinical synopsis from OMIM:

58
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 30 IL2RA

Anatomical Context for Diabetes Mellitus, Insulin-Dependent, 10

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

42
Kidney, Eye

Publications for Diabetes Mellitus, Insulin-Dependent, 10

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

# Title Authors Year
1
Lack of an association of miR-938 SNP in IDDM10 with human type 1 diabetes. ( 22014115 )
2011
2
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. ( 17676041 )
2007
3
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population. ( 15320890 )
2004
4
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. ( 9215668 )
1997
5
Stable renal function in insulin-dependent diabetes mellitus 10 years after nephrotic range proteinuria. ( 8903867 )
1996

Variations for Diabetes Mellitus, Insulin-Dependent, 10

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL2RA NC_000010.11: g.6080046T> A single nucleotide variant association rs11594656 GRCh38 Chromosome 10, 6080046: 6080046
2 IL2RA NC_000010.11: g.6080046T> A single nucleotide variant association rs11594656 GRCh37 Chromosome 10, 6122009: 6122009
3 IL2RA NC_000010.11: g.6072697C> A single nucleotide variant association rs41295061 GRCh37 Chromosome 10, 6114660: 6114660
4 IL2RA NC_000010.11: g.6072697C> A single nucleotide variant association rs41295061 GRCh38 Chromosome 10, 6072697: 6072697
5 IL2RA NC_000010.11: g.6019949delA deletion Uncertain significance GRCh37 Chromosome 10, 6061912: 6061912
6 IL2RA NC_000010.11: g.6019949delA deletion Uncertain significance GRCh38 Chromosome 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
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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