APS3
MCID: ATM061
MIFTS: 33

Autoimmune Polyglandular Syndrome Type 3 (APS3)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

MalaCards integrated aliases for Autoimmune Polyglandular Syndrome Type 3:

Name: Autoimmune Polyglandular Syndrome Type 3 54
Autoimmune Polyendocrine Syndrome Type 3 54 74
Autoimmune Polyglandular Syndrome Type Iii 54
Polyglandular Type Iii Autoimmune Syndrome 74
Polyglandular Autoimmune Syndrome Type 3 54
Pga-Iii 54
Aps3 54
Pas3 54

Classifications:



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Summaries for Autoimmune Polyglandular Syndrome Type 3

NIH Rare Diseases : 54 Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease. The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjogren's syndrome. The adrenal cortex (the outer layer of the adrenal gland) is not involved. There are three types of autoimmune polyglandular syndrome type 3:  APS3A - Autoimmune thyroiditis with immune-mediated diabetes mellitus (IMDM) APS3B - Autoimmune thyroiditis with pernicious anemia APS3C - Autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease The cause is still unknown, but it is believed that it may be an autoimmune disease, where environmental factors (such as viral infections) and genetic factors (such as variations in the HLA II genes) are also involved in the disease. In many cases more than one member of the same family is affected with PAS III, suggesting that its inheritance could be autosomal dominant, and therefore, familiar screening is recommended. It is very important that people with APS3 are monitored closely by their doctors for early detection of any glandular problems. Treatment includes lifelong hormone replacement therapy for any established glandular failure.

MalaCards based summary : Autoimmune Polyglandular Syndrome Type 3, also known as autoimmune polyendocrine syndrome type 3, is related to diabetes mellitus, insulin-dependent and autoimmune disease. An important gene associated with Autoimmune Polyglandular Syndrome Type 3 is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are Interferon gamma signaling and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include thyroid, cortex and adrenal cortex, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autoimmune Polyglandular Syndrome Type 3

Diseases related to Autoimmune Polyglandular Syndrome Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, insulin-dependent 29.7 HLA-DQB1 HLA-DRB1
2 autoimmune disease 29.3 HLA-DQB1 HLA-DRB1
3 autoimmune polyendocrinopathy type 3 11.7
4 diabetes mellitus 10.3
5 alopecia 10.2
6 hypothyroidism 10.2
7 growth hormone deficiency 10.2
8 schizophrenia 10.2
9 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
10 autoimmune disease 1 10.0
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
12 cholangitis, primary sclerosing 10.0
13 sclerosing cholangitis 10.0
14 urticaria 10.0
15 cholangitis 10.0
16 distal trisomy 3p 10.0
17 alopecia universalis congenita 10.0
18 myasthenia gravis 10.0
19 ulcerative colitis 10.0
20 colitis 10.0
21 von willebrand's disease 10.0
22 thyroiditis 10.0
23 alopecia areata 10.0
24 myasthenia gravis congenital 10.0
25 autoimmune addison disease 10.0 CYP21A2 HLA-DRB1
26 limbic encephalitis with lgi1 antibodies 9.9 HLA-DQB1 HLA-DRB1
27 narcolepsy 9.9 HLA-DQB1 HLA-DRB1
28 narcolepsy 2 9.9 HLA-DQB1 HLA-DRB1
29 hypersomnia 9.9 HLA-DQB1 HLA-DRB1
30 metal allergy 9.9 HLA-DQB1 HLA-DRB1
31 lichen planopilaris 9.9 HLA-DQB1 HLA-DRB1
32 type ii mixed cryoglobulinemia 9.9 HLA-DQB1 HLA-DRB1
33 beryllium disease 9.9 HLA-DQB1 HLA-DRB1
34 recurrent respiratory papillomatosis 9.9 HLA-DQB1 HLA-DRB1
35 narcolepsy 1 9.9 HLA-DQB1 HLA-DRB1
36 chronic beryllium disease 9.9 HLA-DQB1 HLA-DRB1
37 lichen sclerosus 9.9 HLA-DQB1 HLA-DRB1
38 whipple disease 9.9 HLA-DQB1 HLA-DRB1
39 pityriasis rosea 9.9 HLA-DQB1 HLA-DRB1
40 pediatric multiple sclerosis 9.9 HLA-DQB1 HLA-DRB1
41 multiple sclerosis 9.9 HLA-DQB1 HLA-DRB1
42 microscopic colitis 9.9 HLA-DQB1 HLA-DRB1
43 osteonecrosis of the jaw 9.9 HLA-DQB1 HLA-DRB1
44 idiopathic bronchiectasis 9.9 HLA-DQB1 HLA-DRB1
45 peanut allergy 9.9 HLA-DQB1 HLA-DRB1
46 pure red-cell aplasia 9.9 HLA-DQB1 HLA-DRB1
47 acute disseminated encephalomyelitis 9.9 HLA-DQB1 HLA-DRB1
48 oligoarticular juvenile idiopathic arthritis 9.9 HLA-DQB1 HLA-DRB1
49 arthritis 9.8 HLA-DQB1 HLA-DRB1
50 glaucomatocyclitic crisis 9.8 HLA-DQB1 HLA-DRB1

Graphical network of the top 20 diseases related to Autoimmune Polyglandular Syndrome Type 3:



Diseases related to Autoimmune Polyglandular Syndrome Type 3

Symptoms & Phenotypes for Autoimmune Polyglandular Syndrome Type 3

GenomeRNAi Phenotypes related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 CYP21A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.5 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 HLA-DRB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.5 HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 CYP21A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.5 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 HLA-DRB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 CYP21A2 HLA-DRB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.5 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.5 CYP21A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 CYP21A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.5 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.5 HLA-DRB1

Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 3

Search Clinical Trials , NIH Clinical Center for Autoimmune Polyglandular Syndrome Type 3

Genetic Tests for Autoimmune Polyglandular Syndrome Type 3

Anatomical Context for Autoimmune Polyglandular Syndrome Type 3

MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 3:

42
Thyroid, Cortex, Adrenal Cortex, Adrenal Gland

Publications for Autoimmune Polyglandular Syndrome Type 3

Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 21)
# Title Authors Year
1
Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. ( 29958949 )
2018
2
Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). ( 27240263 )
2016
3
Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. ( 25759758 )
2015
4
Short Communication FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III. ( 25729932 )
2015
5
Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III. ( 26782418 )
2015
6
A case of autoimmune urticaria accompanying autoimmune polyglandular syndrome type III associated with Hashimoto's disease, type 1 diabetes mellitus, and vitiligo. ( 25185856 )
2014
7
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. ( 22635089 )
2012
8
Autoimmune polyglandular syndrome type 3 with anorexia. ( 23304573 )
2012
9
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. ( 22466347 )
2012
10
Intestinal lymphangiectasia in a patient with autoimmune polyglandular syndrome type III. ( 22616341 )
2011
11
Ulcerative colitis and primary sclerosing cholangitis as part of autoimmune polyglandular syndrome type III. ( 19322903 )
2010
12
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. ( 19968812 )
2010
13
Genetics of the autoimmune polyglandular syndrome type 3 variant. ( 20578896 )
2010
14
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. ( 21537439 )
2010
15
Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3. ( 19289325 )
2009
16
[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. ( 18335399 )
2008
17
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. ( 18580728 )
2008
18
Acquired von Willebrand's syndrome in a patient with severe primary hypothyroidism associated with myasthenia gravis in the course of autoimmune polyglandular syndrome type 3. ( 17880463 )
2007
19
A case of autoimmune polyglandular syndrome type III with a slowly progressive form of type-1 diabetes mellitus that manifested in the course of autoimmune diseases. ( 16467052 )
2006
20
Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population. ( 16254435 )
2005
21
A rare case of autoimmune polyglandular syndrome type 3. ( 12951278 )
2003

Variations for Autoimmune Polyglandular Syndrome Type 3

Expression for Autoimmune Polyglandular Syndrome Type 3

Search GEO for disease gene expression data for Autoimmune Polyglandular Syndrome Type 3.

Pathways for Autoimmune Polyglandular Syndrome Type 3

Pathways related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 HLA-DQB1 HLA-DRB1
2
Show member pathways
11.94 HLA-DQB1 HLA-DRB1
3 11.91 HLA-DQB1 HLA-DRB1
4
Show member pathways
11.9 HLA-DQB1 HLA-DRB1
5
Show member pathways
11.81 HLA-DQB1 HLA-DRB1
6 11.75 HLA-DQB1 HLA-DRB1
7
Show member pathways
11.72 HLA-DQB1 HLA-DRB1
8 11.64 HLA-DQB1 HLA-DRB1
9 11.56 HLA-DQB1 HLA-DRB1
10
Show member pathways
11.48 HLA-DQB1 HLA-DRB1
11 11.42 HLA-DQB1 HLA-DRB1
12
Show member pathways
11.41 HLA-DQB1 HLA-DRB1
13 11.33 HLA-DQB1 HLA-DRB1
14 11.24 HLA-DQB1 HLA-DRB1
15 11.11 HLA-DQB1 HLA-DRB1
16 11.11 HLA-DQB1 HLA-DRB1
17 10.81 HLA-DQB1 HLA-DRB1
18 10.46 HLA-DQB1 HLA-DRB1

GO Terms for Autoimmune Polyglandular Syndrome Type 3

Cellular components related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.46 HLA-DQB1 HLA-DRB1
2 endosome membrane GO:0010008 9.43 HLA-DQB1 HLA-DRB1
3 trans-Golgi network membrane GO:0032588 9.4 HLA-DQB1 HLA-DRB1
4 endocytic vesicle membrane GO:0030666 9.37 HLA-DQB1 HLA-DRB1
5 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQB1 HLA-DRB1
6 transport vesicle membrane GO:0030658 9.26 HLA-DQB1 HLA-DRB1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQB1 HLA-DRB1
8 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQB1 HLA-DRB1
9 MHC class II protein complex GO:0042613 8.62 HLA-DQB1 HLA-DRB1

Biological processes related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.4 HLA-DQB1 HLA-DRB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.37 HLA-DQB1 HLA-DRB1
3 interferon-gamma-mediated signaling pathway GO:0060333 9.32 HLA-DQB1 HLA-DRB1
4 antigen processing and presentation GO:0019882 9.26 HLA-DQB1 HLA-DRB1
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DQB1 HLA-DRB1
6 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DQB1 HLA-DRB1
7 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.62 HLA-DQB1 HLA-DRB1

Molecular functions related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DQB1 HLA-DRB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DRB1

Sources for Autoimmune Polyglandular Syndrome Type 3

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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