T1D10
MCID: TYP027
MIFTS: 25

Type 1 Diabetes Mellitus 10 (T1D10)

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

Aliases & Classifications for Type 1 Diabetes Mellitus 10

MalaCards integrated aliases for Type 1 Diabetes Mellitus 10:

Name: Type 1 Diabetes Mellitus 10 57 12 15
Diabetes Mellitus, Insulin-Dependent, 10 57 73 29 6 71
Iddm10 57 12 73
Diabetes, Mellitus, Insulin-Dependent, Susceptibility to, 10 57 13
Insulin-Dependent Diabetes Mellitus 10 57 12
Diabetes Mellitus, Insulin-Dependent, 10; Iddm10 57
Diabetes Mellitus, Insulin-Dependent, Type 10 39
Diabetes, Mellitus, Insulin-Dependent 10 57
T1d10 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal locus and allelic heterogeneity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110749
OMIM® 57 601942
MeSH 44 D003922
ICD10 32 E10
MedGen 41 C1866040
SNOMED-CT via HPO 68 73211009
UMLS 71 C1866040

Summaries for Type 1 Diabetes Mellitus 10

UniProtKB/Swiss-Prot : 73 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 : Type 1 Diabetes Mellitus 10, also known as diabetes mellitus, insulin-dependent, 10, is related to microvascular complications of diabetes 3 and microvascular complications of diabetes 4. An important gene associated with Type 1 Diabetes Mellitus 10 is IL2RA (Interleukin 2 Receptor Subunit Alpha). Related phenotype is diabetes mellitus.

Disease Ontology : 12 A type 1 diabetes mellitus that has material basis in mutation of the IL2RA gene on chromosome 10p15.1.

More information from OMIM: 601942

Related Diseases for Type 1 Diabetes Mellitus 10

Graphical network of the top 20 diseases related to Type 1 Diabetes Mellitus 10:



Diseases related to Type 1 Diabetes Mellitus 10

Symptoms & Phenotypes for Type 1 Diabetes Mellitus 10

Human phenotypes related to Type 1 Diabetes Mellitus 10:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endocrine:
diabetes mellitus, insulin-dependent

Clinical features from OMIM®:

601942 (Updated 05-Mar-2021)

Drugs & Therapeutics for Type 1 Diabetes Mellitus 10

Search Clinical Trials , NIH Clinical Center for Type 1 Diabetes Mellitus 10

Genetic Tests for Type 1 Diabetes Mellitus 10

Genetic tests related to Type 1 Diabetes Mellitus 10:

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

Anatomical Context for Type 1 Diabetes Mellitus 10

Publications for Type 1 Diabetes Mellitus 10

Articles related to Type 1 Diabetes Mellitus 10:

# Title Authors PMID Year
1
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. 6 57
17676041 2007
2
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. 57
15776395 2005
3
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. 57
9215668 1997
4
A genome-wide search for human type 1 diabetes susceptibility genes. 57
8072542 1994
5
Hypoglycemia-Associated EEG Changes Following Antecedent Hypoglycemia in Type 1 Diabetes Mellitus. 61
28118048 2017
6
Salivary Alkaline Phosphatase as a Noninvasive Marker for Periodontal Disease in Children with Uncontrolled Type 1 Diabetes Mellitus. 61
28052205 2017
7
Prolonged effect of intensive therapy on the risk of retinopathy complications in patients with type 1 diabetes mellitus: 10 years after the Diabetes Control and Complications Trial. 61
19064853 2008
8
Evaluation of factors affecting CGMS calibration. 61
16800753 2006
9
Sorbitol and myo-inositol levels and morphology of sural nerve in relation to peripheral nerve function and clinical neuropathy in men with diabetic, impaired, and normal glucose tolerance. 61
10821291 2000

Variations for Type 1 Diabetes Mellitus 10

ClinVar genetic disease variations for Type 1 Diabetes Mellitus 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RA NC_000010.10:g.6122009T>A SNV Pathogenic 14670 rs11594656 10:6122009-6122009 10:6080046-6080046
2 IL2RA NM_000417.2(IL2RA):c.584-8del Deletion Uncertain significance 626117 rs748515506 10:6061912-6061912 10:6019949-6019949

Expression for Type 1 Diabetes Mellitus 10

Search GEO for disease gene expression data for Type 1 Diabetes Mellitus 10.

Pathways for Type 1 Diabetes Mellitus 10

GO Terms for Type 1 Diabetes Mellitus 10

Biological processes related to Type 1 Diabetes Mellitus 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell adhesion GO:0045785 8.62 STX4 CXCL12

Sources for Type 1 Diabetes Mellitus 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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