MCID: ATM061
MIFTS: 32

Autoimmune Polyglandular Syndrome Type 3

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 autoimmune disease and autoimmune polyendocrinopathy type 3. An important gene associated with Autoimmune Polyglandular Syndrome Type 3 is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), 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 65)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 29.5 HLA-DQB1 HLA-DRB1
2 autoimmune polyendocrinopathy type 3 11.4
3 diabetes mellitus 10.3
4 growth hormone deficiency 10.2
5 hypothyroidism 10.2
6 alopecia 10.2
7 schizophrenia 10.2
8 dermatitis herpetiformis 10.1
9 dermatitis 10.1
10 autoimmune polyendocrine syndrome 10.1
11 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
12 dermatitis herpetiformis, familial 10.1
13 lymphangiectasis 10.0
14 cholangitis 10.0
15 urticaria 10.0
16 sclerosing cholangitis 10.0
17 cholangitis, primary sclerosing 10.0
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
19 autoimmune disease 1 10.0
20 limbic encephalitis with lgi1 antibodies 10.0 HLA-DQB1 HLA-DRB1
21 myasthenia gravis congenital 10.0
22 alopecia areata 10.0
23 thyroiditis 10.0
24 von willebrand's disease 10.0
25 colitis 10.0
26 ulcerative colitis 10.0
27 myasthenia gravis 10.0
28 alopecia universalis congenita 10.0
29 narcolepsy 10.0 HLA-DQB1 HLA-DRB1
30 narcolepsy 2 10.0 HLA-DQB1 HLA-DRB1
31 hypersomnia 10.0 HLA-DQB1 HLA-DRB1
32 metal allergy 10.0 HLA-DQB1 HLA-DRB1
33 lichen planopilaris 10.0 HLA-DQB1 HLA-DRB1
34 type ii mixed cryoglobulinemia 10.0 HLA-DQB1 HLA-DRB1
35 beryllium disease 10.0 HLA-DQB1 HLA-DRB1
36 recurrent respiratory papillomatosis 10.0 HLA-DQB1 HLA-DRB1
37 narcolepsy 1 10.0 HLA-DQB1 HLA-DRB1
38 chronic beryllium disease 10.0 HLA-DQB1 HLA-DRB1
39 lichen sclerosus 10.0 HLA-DQB1 HLA-DRB1
40 whipple disease 10.0 HLA-DQB1 HLA-DRB1
41 pityriasis rosea 10.0 HLA-DQB1 HLA-DRB1
42 pediatric multiple sclerosis 10.0 HLA-DQB1 HLA-DRB1
43 multiple sclerosis 10.0 HLA-DQB1 HLA-DRB1
44 microscopic colitis 10.0 HLA-DQB1 HLA-DRB1
45 osteonecrosis of the jaw 10.0 HLA-DQB1 HLA-DRB1
46 idiopathic bronchiectasis 10.0 HLA-DQB1 HLA-DRB1
47 peanut allergy 10.0 HLA-DQB1 HLA-DRB1
48 pure red-cell aplasia 10.0 HLA-DQB1 HLA-DRB1
49 acute disseminated encephalomyelitis 10.0 HLA-DQB1 HLA-DRB1
50 oligoarticular juvenile idiopathic arthritis 10.0 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, T Cells, Tongue

Publications for Autoimmune Polyglandular Syndrome Type 3

Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 15)
# Title Authors Year
1
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. ( 30924131 )
2019
2
Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. ( 29958949 )
2018
3
Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). ( 27240263 )
2016
4
Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. ( 25759758 )
2015
5
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. ( 22466347 )
2012
6
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. ( 22635089 )
2012
7
Autoimmune polyglandular syndrome type 3 with anorexia. ( 23304573 )
2012
8
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. ( 19968812 )
2010
9
Genetics of the autoimmune polyglandular syndrome type 3 variant. ( 20578896 )
2010
10
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. ( 21537439 )
2010
11
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
12
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. ( 18580728 )
2008
13
[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. ( 18335399 )
2008
14
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
15
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 11.57 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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