T1D22
MCID: TYP055
MIFTS: 31

Type 1 Diabetes Mellitus 22 (T1D22)

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

Aliases & Classifications for Type 1 Diabetes Mellitus 22

MalaCards integrated aliases for Type 1 Diabetes Mellitus 22:

Name: Type 1 Diabetes Mellitus 22 57 12 15
Diabetes Mellitus, Insulin-Dependent, 22 57 73 29 13 6
Iddm22 57 12 73
Diabetes Mellitus, Insulin-Dependent, 22; Iddm22 57
Diabetes Mellitus, Insulin-Dependent, Type 22 39
Insulin-Dependent Diabetes Mellitus 22 12
T1d22 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0110759
OMIM® 57 612522
MeSH 44 D003922
ICD10 32 E10
MedGen 41 C2675864

Summaries for Type 1 Diabetes Mellitus 22

UniProtKB/Swiss-Prot : 73 Diabetes mellitus, insulin-dependent, 22: 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 22, also known as diabetes mellitus, insulin-dependent, 22, is related to submandibular gland cancer and mesangial proliferative glomerulonephritis. An important gene associated with Type 1 Diabetes Mellitus 22 is CCR5 (C-C Motif Chemokine Receptor 5), and among its related pathways/superpathways are Integrin Pathway and Akt Signaling. Affiliated tissues include heart.

Disease Ontology : 12 A type 1 diabetes mellitus that has material basis in mutation of the CCR5 gene on chromosome 3p21.31.

More information from OMIM: 612522

Related Diseases for Type 1 Diabetes Mellitus 22

Diseases in the Diabetes Mellitus family:

Type 1 Diabetes Mellitus 2 Type 2 Diabetes Mellitus
Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus 3
Type 1 Diabetes Mellitus 4 Type 1 Diabetes Mellitus 5
Type 1 Diabetes Mellitus 7 Type 1 Diabetes Mellitus 8
Type 1 Diabetes Mellitus 11 Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 12 Type 2 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 15 Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 10 Type 1 Diabetes Mellitus 17
Type 2 Diabetes Mellitus 3 Diabetes Mellitus, Congenital Autoimmune
Type 1 Diabetes Mellitus 18 Type 2 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 19 Type 1 Diabetes Mellitus 20
Type 1 Diabetes Mellitus 21 Type 1 Diabetes Mellitus 22
Type 1 Diabetes Mellitus 23 Type 1 Diabetes Mellitus 24
Type 2 Diabetes 5 Rare Diabetes Mellitus Type 1
Rare Diabetes Mellitus Type 2 Rare Diabetes Mellitus

Diseases related to Type 1 Diabetes Mellitus 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 submandibular gland cancer 10.0 CCR5 CCL3
2 mesangial proliferative glomerulonephritis 10.0 CCR5 CCL3
3 proliferative glomerulonephritis 10.0 CCR5 CCL3
4 tick-borne encephalitis 10.0 CCR5 CCL3
5 crescentic glomerulonephritis 10.0 CCR5 CCL3
6 autoimmune uveitis 10.0 CCR5 CCL3
7 chronic graft versus host disease 9.9 CCR5 CCL5
8 oral lichen planus 9.9 CCR5 CCL5
9 vaginitis 9.9 CCR5 CCL5
10 toxoplasmosis 9.9 CCR5 CCL3
11 vaginal disease 9.9 CCR5 CCL5
12 ileitis 9.9 CCR5 CCL5
13 yellow fever 9.8 CCR5 CCL5
14 allergic encephalomyelitis 9.8 CCL5 CCL3
15 respiratory syncytial virus infectious disease 9.8 CCL5 CCL3
16 stachybotrys chartarum 9.8 CCL5 CCL3
17 african tick-bite fever 9.8 CCL5 CCL3
18 chronic eosinophilic pneumonia 9.8 CCL5 CCL3
19 periapical granuloma 9.8 CCL5 CCL3
20 radiculopathy 9.8 CCL5 CCL3
21 juvenile rheumatoid arthritis 9.8 CCR5 CCL5
22 pulmonary eosinophilia 9.8 CCL5 CCL3
23 mast-cell leukemia 9.8 CCL5 CCL3
24 chagas disease 9.7 CCR5 CCL3
25 tropical spastic paraparesis 9.7 CCL5 CCL3
26 dengue disease 9.7 CCL5 CCL3
27 extrinsic allergic alveolitis 9.7 CCL5 CCL3
28 proteasome-associated autoinflammatory syndrome 1 9.7 CCL5 CCL3
29 bronchiolitis 9.7 CCL5 CCL3
30 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.6 CCL5 CCL3
31 autoimmune disease of central nervous system 9.6 CCL5 CCL3
32 whiplash 9.6 CCR5 CCL5 CCL3
33 orofacial granulomatosis 9.6 CCR5 CCL5 CCL3
34 pulmonary sarcoidosis 9.6 CCR5 CCL5 CCL3
35 parasitic protozoa infectious disease 9.6 CCR5 CCL5 CCL3
36 primary bacterial infectious disease 9.6 CCR5 CCL5 CCL3
37 human immunodeficiency virus infectious disease 9.6 CCR5 CCL5 CCL3
38 neuritis 9.6 CCR5 CCL5 CCL3
39 encephalitis 9.6 CCR5 CCL5 CCL3
40 aspergillosis 9.6 CCL5 CCL3
41 viral infectious disease 9.6 CCR5 CCL5 CCL3
42 pulmonary disease, chronic obstructive 9.6 CCR5 CCL5 CCL3
43 human immunodeficiency virus type 1 9.5 CCR5 CCL5 CCL3
44 lung disease 9.5 CCR5 CCL5 CCL3
45 autoimmune disease 9.5 CCR5 CCL5 CCL3
46 relapsing-remitting multiple sclerosis 9.4 CCL5 CCL3
47 sarcoidosis 1 9.3 CXCR6 CCR5 CCL5 CCL3
48 immune deficiency disease 9.3 CXCR6 CCR5 CCL5 CCL3

Graphical network of the top 20 diseases related to Type 1 Diabetes Mellitus 22:



Diseases related to Type 1 Diabetes Mellitus 22

Symptoms & Phenotypes for Type 1 Diabetes Mellitus 22

Clinical features from OMIM®:

612522 (Updated 05-Mar-2021)

Drugs & Therapeutics for Type 1 Diabetes Mellitus 22

Search Clinical Trials , NIH Clinical Center for Type 1 Diabetes Mellitus 22

Genetic Tests for Type 1 Diabetes Mellitus 22

Genetic tests related to Type 1 Diabetes Mellitus 22:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Insulin-Dependent, 22 29 CCR5

Anatomical Context for Type 1 Diabetes Mellitus 22

MalaCards organs/tissues related to Type 1 Diabetes Mellitus 22:

40
Heart

Publications for Type 1 Diabetes Mellitus 22

Articles related to Type 1 Diabetes Mellitus 22:

# Title Authors PMID Year
1
Shared and distinct genetic variants in type 1 diabetes and celiac disease. 57
19073967 2008
2
Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. 57
8756719 1996
3
Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. 57
8751444 1996
4
Delayed small intestinal transit in patients with long-standing type 1 diabetes mellitus: investigation of the relationships with clinical features, gastric emptying, psychological distress, and nutritional parameters. 61
23126582 2013
5
[Fetuin A and matrix GLA protein in long standing type I diabetic patients without ischaemic heart disease]. 61
17642133 2006

Variations for Type 1 Diabetes Mellitus 22

ClinVar genetic disease variations for Type 1 Diabetes Mellitus 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCR5 NM_000579.4(CCR5):c.187A>T (p.Ser63Cys) SNV Uncertain significance 992556 3:46414580-46414580 3:46373089-46373089

Expression for Type 1 Diabetes Mellitus 22

Search GEO for disease gene expression data for Type 1 Diabetes Mellitus 22.

Pathways for Type 1 Diabetes Mellitus 22

Pathways related to Type 1 Diabetes Mellitus 22 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 CXCR6 CCR5 CCL5 CCL3
2
Show member pathways
12.82 CXCR6 CCR5 CCL5 CCL3
3
Show member pathways
12.62 CXCR6 CCR5 CCL5 CCL3
4
Show member pathways
12.45 CCR5 CCL5 CCL3
5
Show member pathways
12.22 CXCR6 CCR5 CCL5 CCL3
6
Show member pathways
11.55 CCR5 CCL3
7 11.43 CCL5 CCL3
8 11.34 CXCR6 CCL3
9
Show member pathways
11.26 CXCR6 CCR5 CCL5 CCL3
10 11.12 CCL5 CCL3
11 10.82 CCR5 CCL5 CCL3

GO Terms for Type 1 Diabetes Mellitus 22

Biological processes related to Type 1 Diabetes Mellitus 22 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.98 CXCR6 CCR5 CCL5 CCL3 ADRA2C
2 G protein-coupled receptor signaling pathway GO:0007186 9.83 CXCR6 CCR5 CCL5 CCL3 ADRA2C
3 immune response GO:0006955 9.8 CXCR6 CCR5 CCL5 CCL3
4 cytokine-mediated signaling pathway GO:0019221 9.79 CCR5 CCL5 CCL3
5 MAPK cascade GO:0000165 9.77 CCR5 CCL5 CCL3
6 inflammatory response GO:0006954 9.71 CXCR6 CCR5 CCL5 CCL3
7 calcium ion transport GO:0006816 9.7 CCR5 CCL5 CCL3
8 cellular calcium ion homeostasis GO:0006874 9.66 CCL5 CCL3
9 cellular response to interferon-gamma GO:0071346 9.66 CCL5 CCL3
10 response to toxic substance GO:0009636 9.65 CCL5 CCL3
11 cellular response to interleukin-1 GO:0071347 9.65 CCL5 CCL3
12 neutrophil chemotaxis GO:0030593 9.65 CCL5 CCL3
13 regulation of insulin secretion GO:0050796 9.64 CCL5 ADRA2C
14 cellular response to organic cyclic compound GO:0071407 9.64 CCL5 CCL3
15 positive chemotaxis GO:0050918 9.63 CCL5 CCL3
16 monocyte chemotaxis GO:0002548 9.63 CCL5 CCL3
17 protein kinase B signaling GO:0043491 9.62 CCL5 CCL3
18 lymphocyte chemotaxis GO:0048247 9.61 CCL5 CCL3
19 regulation of sensory perception of pain GO:0051930 9.61 CCL3 ADRA2C
20 lipopolysaccharide-mediated signaling pathway GO:0031663 9.6 CCL5 CCL3
21 positive regulation of calcium ion transport GO:0051928 9.58 CCL5 CCL3
22 eosinophil chemotaxis GO:0048245 9.57 CCL5 CCL3
23 dendritic cell chemotaxis GO:0002407 9.56 CCR5 CCL5
24 cell-cell signaling GO:0007267 9.56 CCR5 CCL5 CCL3 ADRA2C
25 macrophage chemotaxis GO:0048246 9.55 CCL5 CCL3
26 negative regulation by host of viral transcription GO:0043922 9.54 CCL5 CCL3
27 response to cholesterol GO:0070723 9.51 CCR5 CCL3
28 calcium-mediated signaling GO:0019722 9.5 CXCR6 CCR5 CCL3
29 signaling GO:0023052 9.48 CCR5 CCL3
30 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.46 CCR5 CCL3
31 chemotaxis GO:0006935 9.46 CXCR6 CCR5 CCL5 CCL3
32 positive regulation of natural killer cell chemotaxis GO:2000503 9.37 CCL5 CCL3
33 cell chemotaxis GO:0060326 9.26 CXCR6 CCR5 CCL5 CCL3
34 chemokine-mediated signaling pathway GO:0070098 8.92 CXCR6 CCR5 CCL5 CCL3

Molecular functions related to Type 1 Diabetes Mellitus 22 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 EIF2B1 CCR5 CCL5 CCL3 ADRA2C
2 chemokine activity GO:0008009 9.51 CCL5 CCL3
3 coreceptor activity GO:0015026 9.49 CXCR6 CCR5
4 chemoattractant activity GO:0042056 9.48 CCL5 CCL3
5 CCR chemokine receptor binding GO:0048020 9.46 CCL5 CCL3
6 phosphatidylinositol phospholipase C activity GO:0004435 9.43 CCR5 CCL5
7 C-C chemokine binding GO:0019957 9.4 CXCR6 CCR5
8 C-C chemokine receptor activity GO:0016493 9.37 CXCR6 CCR5
9 chemokine receptor activity GO:0004950 9.32 CXCR6 CCR5
10 CCR5 chemokine receptor binding GO:0031730 9.16 CCL5 CCL3
11 phospholipase activator activity GO:0016004 8.96 CCL5 CCL3
12 CCR1 chemokine receptor binding GO:0031726 8.62 CCL5 CCL3

Sources for Type 1 Diabetes Mellitus 22

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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